Pcdhb1 - SNV Details



 Gene Information 
Gene Name Pcdhb1
Gene Description protocadherin beta 1 [Source:MGI Symbol;Acc:MGI:2136730]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; homophilic cell adhesion; plasma membrane; calcium ion binding
Homolog in other species PCDHB1
Omim http://omim.org/entry/606327
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN MEDIALOLFACTORYEPITHELIUM.MOE.)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051663
Chromosome 18
Coordinate 37,267,133     (Assembly: GRCm38)    
Ref Base A
Codon Change atA/atG
Var Base G
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.46
G:V0.54
Amino Acid Position 712
Amino Acid Change I->M (Isoleucine -> Methionine)
Sample ID IGL01663
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.14
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved