Napepld - SNV Details



 Gene Information 
Gene Name Napepld
Old Gene Names for Napepld Ab112350
Gene Description N-acyl phosphatidylethanolamine phospholipase D [Source:MGI Symbol;Acc:MGI:2140885]
MGI phenotype Mice homozygous for a null mutation are viable and healthy, but have abnormal brain levels of N-acyl ethanolamines and N-acyl phosphatidylethanolamines.
Uniprot Name
CCDS Name
Gene GO
membrane; zinc ion binding; NAPE-specific phospholipase D activity; phospholipid catabolic process; phospholipase activity
Homolog in other species NAPEPLD
Omim http://omim.org/entry/612334
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000044968
Chromosome 5
Coordinate 21,675,659     (Assembly: GRCm38)    
Ref Base A
Codon Change tTc/tCc
Var Base G
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Position 246
Amino Acid Change F->S (Phenylalanine -> Serine)
Sample ID IGL01726
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0.1
Sift Prediction tolerated

 Availability Details 
Availability