Celsr3 - SNV Details



 Gene Information 
Gene Name Celsr3
Gene Description cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1858236]
MGI phenotype Mice homozygous for a null allele exhibit neonatal lethality, abnormal neurvous system development, and abnormal respiratory system development.
Uniprot Name
CCDS Name
Gene GO
membrane; regulation of protein localization; transmembrane signaling receptor activity; homophilic cell adhesion; cilium assembly; neuropeptide signaling pathway; protein binding; integral component of membrane; neuron migration; G-protein coupled receptor activity; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; plasma membrane; calcium ion binding; axonal fasciculation
Homolog in other species CELSR3
Omim http://omim.org/entry/604264
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN PITUITARY, AMYGDALA, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023473
Chromosome 9
Coordinate 108,849,453     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 90
Allele Frequency
T:R0.68
C:V0.32
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02939
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved