Fkrp (fukutin related protein) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: Fkrp (fukutin related protein) Mus musculus
Analyze
Symbol: Fkrp
Name: fukutin related protein
RGD ID: 1314134
MGI Page MGI
Description: Enables dystroglycan binding activity; laminin binding activity; and phosphotransferase activity, for other substituted phosphate groups. Acts upstream of or within several processes, including monocarboxylic acid metabolic process; nervous system development; and skeletal muscle organ development. Located in Golgi membrane; extracellular space; and sarcolemma. Is active in Golgi apparatus and skeletal muscle myofibril. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2I; muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; and muscular dystrophy-dystroglycanopathy type B5. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: A830029B19Rik; AI842067; AI847300; fukutin-related protein; LGMD; LGMD1I; MDC1C; ribitol 5-phosphate transferase FKRP; ribitol-5-phosphate transferase
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,543,192 - 16,550,657 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl716,543,171 - 16,550,657 (-)EnsemblGRCm39 Ensembl
GRCm38716,809,267 - 16,816,732 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,809,246 - 16,816,732 (-)EnsemblGRCm38mm10GRCm38
MGSCv37717,394,616 - 17,402,081 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36715,967,789 - 15,975,237 (-)NCBIMGSCv36mm8
Celera714,007,271 - 14,014,735 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map79.15NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (IMP)
basement membrane organization  (IMP)
bone mineralization  (IMP)
brain development  (IMP)
camera-type eye development  (IMP)
central nervous system development  (IMP)
connective tissue development  (IMP)
connective tissue replacement  (IMP)
creatine metabolic process  (IDA)
diaphragm development  (IMP)
extracellular matrix organization  (IDA)
eye development  (IMP)
filtration diaphragm assembly  (IMP)
gene expression  (IMP)
glial cell differentiation  (IMP)
glycolytic process  (IDA)
glycoprotein biosynthetic process  (IDA)
heart development  (IMP)
heart morphogenesis  (IMP)
in utero embryonic development  (IMP)
inflammatory response  (IMP)
lipid metabolic process  (IDA)
localization of cell  (IMP)
maintenance of protein localization in endoplasmic reticulum  (IMP)
muscle cell differentiation  (IMP)
muscle contraction  (IMP)
muscle structure development  (IMP)
neuromuscular process  (IDA,IGI,IMP)
neuron migration  (IMP)
oxygen metabolic process  (IMP)
pentitol metabolic process  (IDA)
pentose metabolic process  (IDA)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP)
protein glycosylation  (IDA,IGI,IMP)
protein import  (IMP)
protein localization  (IMP)
protein modification process  (IMP)
protein O-linked mannosylation  (IBA,IMP,ISO)
protein processing  (IDA)
protein tetramerization  (IEA,ISO)
reelin-mediated signaling pathway  (IMP)
respiratory system process  (IMP)
response to activity  (IMP)
response to alcohol  (IMP)
response to glucocorticoid  (IMP)
response to xenobiotic stimulus  (IMP)
skeletal muscle fiber differentiation  (IMP)
skeletal muscle organ development  (IMP)
skeletal muscle tissue development  (IMP)
skeletal muscle tissue regeneration  (IMP)
striated muscle cell differentiation  (IMP)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal b-wave amplitude  (IAGP)
abnormal brain morphology  (IAGP)
abnormal brain pia mater morphology  (IAGP)
abnormal brainstem morphology  (IAGP)
abnormal Cajal-Retzius cell morphology  (IAGP)
abnormal cerebellar foliation  (IAGP)
abnormal cerebellar hemisphere morphology  (IAGP)
abnormal cerebellum external granule cell layer morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal cone electrophysiology  (IAGP)
abnormal cortical marginal zone morphology  (IAGP)
abnormal cortical plate morphology  (IAGP)
abnormal dentate gyrus morphology  (IAGP)
abnormal extensor digitorum longus morphology  (IAGP)
abnormal eye size  (IAGP)
abnormal inferior colliculus morphology  (IAGP)
abnormal meninges morphology  (IAGP)
abnormal Muller cell morphology  (IAGP)
abnormal muscle morphology  (IAGP)
abnormal muscle physiology  (IAGP)
abnormal neocortex morphology  (IAGP)
abnormal neuronal migration  (IAGP)
abnormal optic disk morphology  (IAGP)
abnormal radial glial cell morphology  (IAGP)
abnormal reflex  (IAGP)
abnormal retina ganglion layer morphology  (IAGP)
abnormal retina inner limiting membrane morphology  (IAGP)
abnormal retina inner nuclear layer morphology  (IAGP)
abnormal retina vasculature morphology  (IAGP)
abnormal skeletal muscle fiber morphology  (IAGP)
abnormal skeletal muscle fiber type ratio  (IAGP)
abnormal stratification in cerebral cortex  (IAGP)
abnormal superior colliculus morphology  (IAGP)
abnormal tectum morphology  (IAGP)
abnormal tibialis anterior morphology  (IAGP)
abnormal vitreous body morphology  (IAGP)
calcified muscle  (IAGP)
centrally nucleated skeletal muscle fibers  (IAGP)
cornea opacity  (IAGP)
decreased birth body size  (IAGP)
decreased body weight  (IAGP)
decreased skeletal muscle fiber number  (IAGP)
dilated lateral ventricle  (IAGP)
domed cranium  (IAGP)
dystrophic muscle  (IAGP)
ectopic neuron  (IAGP)
edema  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality prior to tooth bud stage, complete penetrance  (IAGP)
hydrocephaly  (IAGP)
increased a-wave amplitude  (IAGP)
increased circulating alanine transaminase level  (IAGP)
increased circulating creatine kinase level  (IAGP)
increased skeletal muscle fiber diameter  (IAGP)
increased skeletal muscle fiber size  (IAGP)
increased variability of skeletal muscle fiber size  (IAGP)
limb grasping  (IAGP)
muscle degeneration  (IAGP)
muscle weakness  (IAGP)
myopathy  (IAGP)
myositis  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
optic nerve hypoplasia  (IAGP)
parietal bossing  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
skeletal muscle fiber degeneration  (IAGP)
skeletal muscle fiber necrosis  (IAGP)
skeletal muscle fibrosis  (IAGP)
skeletal muscle hypertrophy  (IAGP)
thin retina inner nuclear layer  (IAGP)
thin retina outer nuclear layer  (IAGP)
vitreal fibroplasia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Brockington M, etal., Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.
2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Brockington M, etal., Hum Mol Genet. 2001 Dec 1;10(25):2851-9.
3. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Chan YM, etal., Hum Mol Genet. 2010 Oct 15;19(20):3995-4006. doi: 10.1093/hmg/ddq314. Epub 2010 Jul 30.
4. Functional requirements for fukutin-related protein in the Golgi apparatus. Esapa CT, etal., Hum Mol Genet 2002 Dec 15;11(26):3319-31.
5. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Frosk P, etal., Hum Mutat. 2005 Jan;25(1):38-44.
6. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
7. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Harel T, etal., Eur J Hum Genet. 2004 Jan;12(1):38-43.
8. Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
9. Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. Kefi M, etal., Neuropediatrics. 2008 Apr;39(2):113-5. doi: 10.1055/s-2008-1081465.
10. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
11. MGDs mouse GO annotations MGD data from the GO Consortium
12. Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Müller T, etal., Neuromuscul Disord. 2005 May;15(5):372-6.
13. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. Qiao C, etal., Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141. Epub 2014 Jul 22.
16. Mouse MP Annotation Import Pipeline RGD automated import pipeline
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Sveen ML, etal., Ann Neurol. 2006 May;59(5):808-15.
20. A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Van Reeuwijk J, etal., Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11.
21. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. Vieira NM, etal., Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.
22. Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]. Wang CH, etal., Am J Pathol. 2011 Jan;178(1):261-72. doi: 10.1016/j.ajpath.2010.11.020. Epub 2010 Dec 23.
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12477932   PMID:15489334   PMID:15574464   PMID:15782199   PMID:15837576   PMID:16141072   PMID:16141073  
PMID:17452335   PMID:18799693   PMID:19155270   PMID:19900540   PMID:21267068   PMID:21677750   PMID:21873635   PMID:21900571   PMID:22270369   PMID:23591631   PMID:23817215   PMID:24234655  
PMID:24256719   PMID:24635668   PMID:25976249   PMID:26306834   PMID:26574668   PMID:26923585   PMID:27109613   PMID:27515093   PMID:27561302   PMID:27627455   PMID:27711214   PMID:28039900  
PMID:28107841   PMID:28334834   PMID:28663375   PMID:28859131   PMID:28860175   PMID:29320543   PMID:29571322   PMID:29625576   PMID:30150693   PMID:31091146   PMID:31296900   PMID:32290105  
PMID:32968282   PMID:33051673   PMID:38277301  


Genomics

Comparative Map Data
Fkrp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,543,192 - 16,550,657 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl716,543,171 - 16,550,657 (-)EnsemblGRCm39 Ensembl
GRCm38716,809,267 - 16,816,732 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,809,246 - 16,816,732 (-)EnsemblGRCm38mm10GRCm38
MGSCv37717,394,616 - 17,402,081 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36715,967,789 - 15,975,237 (-)NCBIMGSCv36mm8
Celera714,007,271 - 14,014,735 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map79.15NCBI
FKRP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381946,744,760 - 46,758,575 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1946,746,046 - 46,776,988 (+)EnsemblGRCh38hg38GRCh38
GRCh371947,249,314 - 47,261,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,941,143 - 51,953,582 (+)NCBINCBI36Build 36hg18NCBI36
Build 341951,941,154 - 51,953,581NCBI
Celera1944,052,833 - 44,066,103 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1943,674,242 - 43,686,703 (+)NCBIHuRef
CHM1_11947,251,200 - 47,263,719 (+)NCBICHM1_1
T2T-CHM13v2.01949,570,337 - 49,584,398 (+)NCBIT2T-CHM13v2.0
Fkrp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8186,607,769 - 86,615,045 (-)NCBIGRCr8
mRatBN7.2177,479,641 - 77,486,954 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,476,084 - 77,486,992 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx182,859,819 - 82,865,434 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,423,863 - 91,429,478 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0184,614,910 - 84,620,525 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,733,461 - 78,740,803 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,980,656 - 79,987,961 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,133,884 - 77,139,485 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1177,211,994 - 77,217,596 (-)NCBI
Celera171,964,734 - 71,970,335 (-)NCBICelera
Cytogenetic Map1q21NCBI
Fkrp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955574786,758 - 788,348 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955574779,672 - 789,621 (+)NCBIChiLan1.0ChiLan1.0
FKRP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22052,895,811 - 52,905,652 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11954,766,677 - 54,776,808 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01943,738,339 - 43,748,250 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11952,268,889 - 52,277,888 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1952,273,546 - 52,276,341 (+)Ensemblpanpan1.1panPan2
FKRP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11109,166,527 - 109,177,393 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1109,168,644 - 109,178,319 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1108,646,333 - 108,657,154 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01109,692,868 - 109,703,829 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1109,693,019 - 109,702,692 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11109,370,001 - 109,380,952 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01109,004,334 - 109,015,149 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01109,872,874 - 109,883,835 (-)NCBIUU_Cfam_GSD_1.0
Fkrp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934918,958,974 - 18,968,719 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936664578,126 - 586,795 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936664577,109 - 586,848 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FKRP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl652,627,471 - 52,639,253 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1652,627,466 - 52,639,255 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2647,948,142 - 47,957,965 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FKRP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,100,399 - 40,128,340 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl640,126,321 - 40,127,808 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607319,812,461 - 19,825,085 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fkrp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248326,849,005 - 6,857,898 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248326,849,001 - 6,858,931 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Fkrp
194 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:517
Count of miRNA genes:341
Interacting mature miRNAs:397
Transcripts:ENSMUST00000061390
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300722Sle3_msystemic lupus erythmatosus susceptibility 3 (mouse)Not determined7351172887142720Mouse
25314307Mlh1fc2_mMLH1 foci count 2 (mouse)76502999133501729Mouse
4141566Femwf8_mfemur work to failure 8 (mouse)Not determined1303248547032621Mouse
38501068Tip1_mtuberculosis immunophenotype 1, spleen CFU (mouse)7360299972549748Mouse
1301115Lrdm1_mlymphoproliferation (Fas) renal disease modifier 1 (mouse)Not determined7335204824879418Mouse
25314314Sccor1_msynaptonemal complex length to mean MLH1 count ratio 1 (mouse)71333392547349748Mouse
12904941Edlmmq6_mextensor digitorum longus muscle mass QTL 6 (mouse)7121821047Mouse
1301177Vent3_mventricular size 3 (mouse)Not determined7120511925Mouse
10054067Sle20_msystematic lupus erythematosus susceptibility 20 (mouse)Not determined7120511925Mouse
25394569Skmw57_mskeletal muscle weight 57, gastroc (mouse)7458046916687861Mouse
10449139Eosn1_meosinophil differential 1 (mouse)71248087746480877Mouse
12904948Tammq5_mtibialis anterior muscle mass QTL 5 (mouse)7121821047Mouse
1302115Abhr3_mallergen-induced bronchial hyperresponsiveness 3 (mouse)Not determined7331599616637423Mouse
11522751Cocia17_mcocaine-induced activity, QTL 17 (mouse)71313520447135204Mouse
12792978Fbmd3_mfemoral bone mineral density 3, females only (mouse)77050288142367832Mouse
1301572Sluc30_msusceptibility to lung cancer 30 (mouse)Not determined7243169636431844Mouse
1357699Nhdlq6_mnon-HDL QTL 6 (mouse)Not determined7998886743988984Mouse
10449158Eosn3_meosinophil differential 3 (mouse)71248087746480877Mouse
1558893Spir1_mStreptococcus pneumoniae infection resistance 1 (mouse)Not determined71030579844305936Mouse
12904953Gmmq5_mgastrocnemius muscle mass QTL 5 (mouse)7121821047Mouse
1302188Lxw6_mlupus BXSB x NZW 6 (mouse)Not determined7121698146Mouse

Markers in Region
AI847300  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38716,809,381 - 16,809,467UniSTSGRCm38
MGSCv37717,394,730 - 17,394,816UniSTSGRCm37
Celera714,007,385 - 14,007,471UniSTS
Cytogenetic Map7A2UniSTS
Whitehead/MRC_RH7206.67UniSTS
09.MMHAP70FLC3.seq  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38716,814,356 - 16,814,510UniSTSGRCm38
MGSCv37717,399,705 - 17,399,859UniSTSGRCm37
Celera714,012,359 - 14,012,513UniSTS
Cytogenetic Map7A2UniSTS
Whitehead_YAC7 UniSTS
UniSTS:235607  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38716,809,736 - 16,809,952UniSTSGRCm38
MGSCv37717,395,085 - 17,395,301UniSTSGRCm37
Celera714,007,740 - 14,007,956UniSTS
Cytogenetic Map7A2UniSTS
AI842067  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38716,811,548 - 16,811,686UniSTSGRCm38
MGSCv37717,396,897 - 17,397,035UniSTSGRCm37
Celera714,009,552 - 14,009,690UniSTS
Cytogenetic Map7A2UniSTS
Whitehead/MRC_RH7225.41UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001358846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006539929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006539930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011250562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC148981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ511806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK080624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK135089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK156156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK164636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK166068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK168308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK189687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK209876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK216474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK218251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY014040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000061390   ⟹   ENSMUSP00000059091
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl716,543,171 - 16,550,657 (-)Ensembl
GRCm38.p6 Ensembl716,809,246 - 16,816,732 (-)Ensembl
Ensembl Acc Id: ENSMUST00000205368
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl716,548,669 - 16,550,657 (-)Ensembl
GRCm38.p6 Ensembl716,814,744 - 16,816,732 (-)Ensembl
Ensembl Acc Id: ENSMUST00000205677
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl716,547,046 - 16,549,618 (-)Ensembl
GRCm38.p6 Ensembl716,813,121 - 16,815,693 (-)Ensembl
Ensembl Acc Id: ENSMUST00000206259   ⟹   ENSMUSP00000145701
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl716,545,537 - 16,549,446 (-)Ensembl
GRCm38.p6 Ensembl716,811,612 - 16,815,521 (-)Ensembl
RefSeq Acc Id: NM_001358846   ⟹   NP_001345775
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39716,543,192 - 16,550,657 (-)NCBI
GRCm38716,809,267 - 16,816,732 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173430   ⟹   NP_775606
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39716,543,192 - 16,550,657 (-)NCBI
GRCm38716,809,267 - 16,816,732 (-)NCBI
MGSCv37717,394,616 - 17,402,081 (-)RGD
Celera714,007,271 - 14,014,735 (-)RGD
cM Map7 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006539929   ⟹   XP_006539992
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39716,543,192 - 16,549,483 (-)NCBI
GRCm38716,809,267 - 16,815,551 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006539930   ⟹   XP_006539993
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39716,543,192 - 16,549,483 (-)NCBI
GRCm38716,809,267 - 16,815,551 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011250562   ⟹   XP_011248864
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39716,543,192 - 16,549,483 (-)NCBI
GRCm38716,809,267 - 16,815,551 (-)NCBI
Sequence:
RefSeq Acc Id: NP_775606   ⟸   NM_173430
- UniProtKB: Q8BJR3 (UniProtKB/Swiss-Prot),   Q8CG64 (UniProtKB/Swiss-Prot),   Q3TM90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006539992   ⟸   XM_006539929
- Peptide Label: isoform X1
- UniProtKB: Q8BJR3 (UniProtKB/Swiss-Prot),   Q8CG64 (UniProtKB/Swiss-Prot),   Q3TM90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006539993   ⟸   XM_006539930
- Peptide Label: isoform X1
- UniProtKB: Q8BJR3 (UniProtKB/Swiss-Prot),   Q8CG64 (UniProtKB/Swiss-Prot),   Q3TM90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011248864   ⟸   XM_011250562
- Peptide Label: isoform X1
- UniProtKB: Q8BJR3 (UniProtKB/Swiss-Prot),   Q8CG64 (UniProtKB/Swiss-Prot),   Q3TM90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001345775   ⟸   NM_001358846
- UniProtKB: Q8CG64 (UniProtKB/Swiss-Prot),   Q8BJR3 (UniProtKB/Swiss-Prot),   Q3TM90 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSMUSP00000145701   ⟸   ENSMUST00000206259
Ensembl Acc Id: ENSMUSP00000059091   ⟸   ENSMUST00000061390

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8CG64-F1-model_v2 AlphaFold Q8CG64 1-494 view protein structure

Promoters
RGD ID:6891942
Promoter ID:EPDNEW_M9422
Type:multiple initiation site
Name:Fkrp_1
Description:Mus musculus fukutin related protein , transcript variant 2,mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38716,816,732 - 16,816,792EPDNEW
RGD ID:6841119
Promoter ID:MM_KWN:48929
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day1,   Brain,   Lung
Transcripts:NM_173430,   UC009FID.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36717,402,211 - 17,402,711 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2447586 AgrOrtholog
Ensembl Genes ENSMUSG00000048920 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000061390 ENTREZGENE
  ENSMUST00000061390.9 UniProtKB/Swiss-Prot
  ENSMUST00000206259.2 UniProtKB/TrEMBL
InterPro LicD_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LicD_transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:243853 UniProtKB/Swiss-Prot
MGD MGI:2447586 ENTREZGENE
NCBI Gene 243853 ENTREZGENE
PANTHER FUKUTIN RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUKUTIN-RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FKRP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LicD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Fkrp PhenoGen
UniProt A0A0U1RNU1_MOUSE UniProtKB/TrEMBL
  FKRP_MOUSE UniProtKB/Swiss-Prot
  Q05C54_MOUSE UniProtKB/TrEMBL
  Q3THE8_MOUSE UniProtKB/TrEMBL
  Q3TM90 ENTREZGENE, UniProtKB/TrEMBL
  Q8BJR3 ENTREZGENE
  Q8CG64 ENTREZGENE
UniProt Secondary Q8BJR3 UniProtKB/Swiss-Prot