Pcdhb1 - SNV Details




Date removed: 05/12/2013
 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 37,266,313     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gGa
Var Base G
Zygosity Heterozygous
Read Depth 139
Allele Frequency
A:R0.53
G:V0.46
Amino Acid Position 439
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01623
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.65
Polyphen Prediction Possibly damaging
Sift Score 0.09
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved