Ptdss2 - SNV Details



 Gene Information 
Gene Name Ptdss2
Old Gene Names for Ptdss2 Ai481134 , Ai988017
Gene Description phosphatidylserine synthase 2 [Source:MGI Symbol;Acc:MGI:1351664]
MGI phenotype Disruption of this gene causes infertility in about 10% of homozygous males. The remaining males and all females were fertile.
Uniprot Name
CCDS Name
Gene GO
CDP-diacylglycerol-serine O-phosphatidyltransferase activity; membrane; integral to membrane; phosphatidylserine biosynthetic process; endoplasmic reticulum membrane; intracellular
Homolog in other species PTDSS2
Omim http://omim.org/entry/612793
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025495
Chromosome 7
Coordinate 141,152,998     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 44
Allele Frequency
C:R0.52
A:V0.48
Amino Acid Change C->Stop (Cysteine -> Stop)
Sample ID IGL02606
Median Base Quality 35.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved