Crb1 - SNV Details



 Human Rare Diseases 
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis

 Gene Information 
Gene Name Crb1
Old Gene Names for Crb1 7530426h14rik , A930008g09rik
Gene Description crumbs homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2136343]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; eye photoreceptor cell development; plasma membrane organization; protein binding; cellular membrane organization; microvillus; plasma membrane; calcium ion binding
Homolog in other species CRB1
Omim http://omim.org/entry/604210
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063681
Chromosome 1
Coordinate 139,237,227     (Assembly: GRCm38)    
Ref Base C
Codon Change gGt/gAt
Var Base T
Zygosity Heterozygous
Read Depth 25
Allele Frequency
C:R0.52
T:V0.48
Amino Acid Position 1114
Amino Acid Change G->D (Glycine -> Aspartic acid)
Sample ID IGL02172
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.73
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved