Plekhm2 - SNV Details



 Gene Information 
Gene Name Plekhm2
Old Gene Names for Plekhm2 Ai854247 , 2310034j19rik
Gene Description pleckstrin homology domain containing, family M (with RUN domain) member 2 [Source:MGI Symbol;Acc:MGI:1916832]
Uniprot Name
CCDS Name
Gene GO
Golgi organization; protein binding; cellular_component; kinesin binding
Homolog in other species PLEKHM2
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028917
Chromosome 4
Coordinate 141,634,347     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL03286
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0.84
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved