Pcdh12 - SNV Details



 Gene Information 
Gene Name Pcdh12
Gene Description protocadherin 12 [Source:MGI Symbol;Acc:MGI:1855700]
MGI phenotype Mice homozygous for a targeted mutation are viable, fertile and do not display any obvious histomorphological abnormalities.
Uniprot Name
CCDS Name
Gene GO
calcium-dependent cell-cell adhesion; membrane; homophilic cell adhesion; glycogen metabolic process; integral to plasma membrane; cell-cell junction; labyrinthine layer development; calcium ion binding
Homolog in other species PCDH12
Omim http://omim.org/entry/605622
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024440
Chromosome 18
Coordinate 38,282,731     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.62
A:V0.38
Amino Acid Change Q->L (Glutamine -> Leucine)
Sample ID IGL00964
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved