Incidental Mutation 'IGL01654:Pnpo'
ID102931
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 #IGL01654
Quality Score
Status
Chromosome11
Chromosomal Location96937825-96943986 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 96943729 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018803] [ENSMUST00000107629]
Predicted Effect probably null
Transcript: ENSMUST00000018803
SMART Domains Protein: ENSMUSP00000018803
Gene: ENSMUSG00000018659

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 probably null
Transcript: ENSMUST00000107629
SMART Domains Protein: ENSMUSP00000103255
Gene: ENSMUSG00000018659

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,953,340 E68V probably damaging Het
Abcb1a T C 5: 8,715,065 probably null Het
Abcg2 T A 6: 58,683,321 probably null Het
Adgrf5 T C 17: 43,451,170 I1252T possibly damaging Het
Apol10b A T 15: 77,588,796 D19E probably benign Het
Bbs9 T A 9: 22,490,942 probably null Het
Bod1l T C 5: 41,818,176 T1932A probably damaging Het
C2cd5 A G 6: 143,081,407 V124A probably benign Het
Cd151 T A 7: 141,470,362 I170N probably benign Het
Ckap5 C T 2: 91,577,609 H827Y probably benign Het
Clk3 C T 9: 57,751,763 V572M probably damaging Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Enpp5 A G 17: 44,081,175 D165G possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Fbxw14 T C 9: 109,286,580 probably benign Het
Fes C T 7: 80,386,810 probably null Het
Gemin4 A T 11: 76,213,398 L179H probably damaging Het
Gm3327 A G 14: 44,124,860 E72G unknown Het
Gm4847 C T 1: 166,638,348 R224Q probably damaging Het
Lonp2 T C 8: 86,714,086 V357A probably damaging Het
Mc2r A G 18: 68,408,072 I50T probably benign Het
Mmp19 C T 10: 128,798,520 A310V probably damaging Het
Naip6 C T 13: 100,299,345 R890Q probably benign Het
Npdc1 T C 2: 25,407,637 S101P possibly damaging Het
Phldb1 T C 9: 44,718,357 probably null Het
Pkd2l1 T C 19: 44,154,223 N460S probably damaging Het
Prkcq A T 2: 11,283,843 T536S probably damaging Het
Rft1 T A 14: 30,676,880 V269E probably damaging Het
Skint4 A T 4: 112,120,057 I215F probably damaging Het
Slc12a5 G A 2: 164,973,755 D41N possibly damaging Het
Srp68 T C 11: 116,247,812 probably benign Het
Wdr17 T C 8: 54,662,879 T623A probably damaging Het
Zfand2a A G 5: 139,482,068 probably benign Het
Zfp644 T C 5: 106,635,930 Y917C probably damaging Het
Zmym6 C T 4: 127,123,726 S1008L probably damaging Het
Other mutations in Pnpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Pnpo APN 11 96943792 missense possibly damaging 0.90
IGL01646:Pnpo APN 11 96938949 missense possibly damaging 0.93
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 On2014-01-21