Celsr2 - SNV Details



 Gene Information 
Gene Name Celsr2
Gene Description cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1858235]
MGI phenotype Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.
Uniprot Name
CCDS Name
Gene GO
dendrite morphogenesis; membrane; spermatogenesis; integral to membrane; ventricular system development; transmembrane signaling receptor activity; homophilic cell adhesion; regulation of cell-cell adhesion; neuropeptide signaling pathway; protein binding; neuron migration; G-protein coupled receptor activity; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; plasma membrane; calcium ion binding
Homolog in other species CELSR2
Omim http://omim.org/entry/604265
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000068740
Chromosome 3
Coordinate 108,414,843     (Assembly: GRCm38)    
Ref Base A
Codon Change Tac/Cac
Var Base G
Zygosity Heterozygous
Read Depth 58
Allele Frequency
A:R0.50
G:V0.48
Amino Acid Position 218
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL01674
Median Base Quality 33
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved