Incidental Mutation 'IGL00970:Pnpo'
ID28624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpo
Ensembl Gene ENSMUSG00000018659
Gene Namepyridoxine 5'-phosphate oxidase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.428) question?
Stock #IGL00970
Quality Score
Status
Chromosome11
Chromosomal Location96937825-96943986 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 96943792 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 26 (C26F)
Ref Sequence ENSEMBL: ENSMUSP00000103255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018803] [ENSMUST00000107629]
Predicted Effect probably benign
Transcript: ENSMUST00000018803
AA Change: C26F

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000018803
Gene: ENSMUSG00000018659
AA Change: C26F

DomainStartEndE-ValueType
Pfam:Pyridox_oxase_2 59 149 3.9e-8 PFAM
Pfam:Pyridox_oxidase 60 153 2.4e-27 PFAM
Pfam:PNPOx_C 206 261 2.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107628
Predicted Effect possibly damaging
Transcript: ENSMUST00000107629
AA Change: C26F

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103255
Gene: ENSMUSG00000018659
AA Change: C26F

DomainStartEndE-ValueType
PDB:1NRG|A 1 92 2e-49 PDB
SCOP:d1dnla_ 57 86 3e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186326
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833427G06Rik T A 9: 51,083,586 K148* probably null Het
Adamts19 T A 18: 59,011,077 N910K possibly damaging Het
Atp8b5 A G 4: 43,311,938 T184A probably benign Het
Cabp7 T C 11: 4,738,931 I180V probably benign Het
Casp8ap2 A G 4: 32,646,182 T1752A probably benign Het
Dgkb T C 12: 38,190,083 L453P probably damaging Het
Disp2 A C 2: 118,791,793 D1002A probably damaging Het
Eif3c G A 7: 126,559,008 P259S probably benign Het
Fam227b A T 2: 126,127,060 D31E probably benign Het
Farp2 T C 1: 93,560,327 V92A probably benign Het
Fhod1 C A 8: 105,332,102 V745L possibly damaging Het
Gm8994 A G 6: 136,329,111 D169G probably damaging Het
Gprin3 T C 6: 59,353,837 E495G possibly damaging Het
Grm5 T C 7: 87,803,896 I247T probably damaging Het
Herc2 T C 7: 56,181,064 probably benign Het
Hspg2 C A 4: 137,542,590 Q2311K probably benign Het
Krt26 T C 11: 99,331,281 Y400C probably benign Het
Lct A T 1: 128,304,068 D681E probably damaging Het
Lgalsl G T 11: 20,826,493 P133Q probably benign Het
Man2b2 C T 5: 36,816,143 W76* probably null Het
Mylk4 T C 13: 32,715,922 E326G probably damaging Het
Odam T G 5: 87,886,608 probably benign Het
Pabpc4 T C 4: 123,286,815 I110T probably damaging Het
Pcdh15 A T 10: 74,379,340 D47V probably damaging Het
Plekhg4 C T 8: 105,378,435 R577C probably benign Het
Polg T C 7: 79,451,745 I1071M probably benign Het
Prr23a2 A G 9: 98,856,961 D124G probably benign Het
Rexo1 C T 10: 80,550,964 V87I probably damaging Het
Robo2 C A 16: 73,897,046 V1502L probably benign Het
Ruvbl2 A G 7: 45,429,570 L50P possibly damaging Het
Ryr3 T C 2: 112,764,676 K2534E probably damaging Het
Scfd2 T C 5: 74,530,934 H229R possibly damaging Het
Sesn3 A G 9: 14,321,142 D237G probably damaging Het
Shank1 T C 7: 44,354,238 S1785P possibly damaging Het
Slc11a1 A G 1: 74,380,662 T165A probably damaging Het
Star G A 8: 25,812,866 probably null Het
Trpc6 A T 9: 8,653,151 N575Y probably damaging Het
Unc5d T C 8: 28,696,428 T598A probably benign Het
Vmn1r200 A T 13: 22,395,723 Q232L probably damaging Het
Wdr31 T C 4: 62,457,520 T233A probably damaging Het
Zzef1 G A 11: 72,915,245 R2669Q probably benign Het
Other mutations in Pnpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Pnpo APN 11 96938949 missense possibly damaging 0.93
IGL01654:Pnpo APN 11 96943729 critical splice donor site probably null
IGL02081:Pnpo APN 11 96939324 missense probably damaging 0.99
IGL03153:Pnpo APN 11 96943835 missense probably damaging 1.00
IGL03179:Pnpo APN 11 96939259 missense possibly damaging 0.79
R0398:Pnpo UTSW 11 96942427 nonsense probably null
R3917:Pnpo UTSW 11 96939757 missense probably damaging 1.00
R4418:Pnpo UTSW 11 96940969 splice site probably null
R5214:Pnpo UTSW 11 96942469 missense probably benign 0.07
R5427:Pnpo UTSW 11 96943807 missense probably benign 0.02
X0052:Pnpo UTSW 11 96943808 missense possibly damaging 0.71
Posted On2013-04-17