Pnpo - SNV Details



 Human Rare Diseases 
Pyridoxal phosphate-responsive seizures

 Gene Information 
Gene Name Pnpo
Old Gene Names for Pnpo Ai415282
Gene Description pyridoxine 5'-phosphate oxidase [Source:MGI Symbol;Acc:MGI:2144151]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; oxidoreductase activity; pyridoxal phosphate biosynthetic process; extracellular vesicular exosome; cellular_component; oxidoreductase activity
acting on the CH-NH2 group of donors; FMN binding; pyridoxine biosynthetic process; pyridoxamine-phosphate oxidase activity
Homolog in other species PNPO
Omim http://omim.org/entry/603287
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018659
Chromosome 11
Coordinate 96,943,835     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 36
Allele Frequency
A:R0.61
T:V0.39
Amino Acid Change F->I (Phenylalanine -> Isoleucine)
Sample ID IGL03153
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.27
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved