Pkp4 - SNV Details



 Gene Information 
Gene Name Pkp4
Old Gene Names for Pkp4 5031422i09rik , 9430019k17rik , Armrp
Gene Description plakophilin 4 [Source:MGI Symbol;Acc:MGI:109281]
MGI phenotype An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age.
Uniprot Name
CCDS Name
Gene GO
cell-cell junction assembly; mitotic spindle; perinuclear region of cytoplasm; cytoplasm; cell-cell contact zone; positive regulation of Rho GTPase activity; midbody; cytoplasmic side of plasma membrane; cell-cell junction; protein binding; single organismal cell-cell adhesion; binding; positive regulation of cytokinesis; cytoskeleton; desmosome; spindle pole; spindle midzone; plasma membrane; positive regulation of gene expression
Homolog in other species PKP4
Omim http://omim.org/entry/604276
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026991
Chromosome 2
Coordinate 59,266,425     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 39
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL03017
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved