Ush2a - SNV Details



 Human Rare Diseases 
Usher syndrome type 2
Retinitis pigmentosa

 Gene Information 
Gene Name Ush2a
Old Gene Names for Ush2a A930011d15rik , Gm983 , A930037m10rik , Gm676
Gene Description Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]
MGI phenotype Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.
Uniprot Name
CCDS Name
Gene GO
basement membrane; myosin binding; stereocilia ankle link complex; response to stimulus; integral to membrane; apical plasma membrane; cytoplasm; photoreceptor cell maintenance; hair cell differentiation; protein binding; maintenance of organ identity; stereocilium membrane; sensory perception of sound; stereocilia ankle link; stereocilium bundle; sensory perception of light stimulus; inner ear receptor cell differentiation; collagen binding
Homolog in other species USH2A
Omim http://omim.org/entry/608400
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
MEDIAN
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026609
Chromosome 1
Coordinate 188,784,746     (Assembly: GRCm38)    
Ref Base A
Codon Change Atg/Ttg
Var Base T
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.39
T:V0.61
Amino Acid Position 3218
Amino Acid Change M->L (Methionine -> Leucine)
Sample ID IGL02367
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000050454:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000050454 Smart 3101
3477 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000050454 Superfamily 3091
3499 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved