Incidental Mutation 'IGL03179:Pnpo'
ID 412149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpo
Ensembl Gene ENSMUSG00000018659
Gene Name pyridoxine 5'-phosphate oxidase
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # IGL03179
Quality Score
Status
Chromosome 11
Chromosomal Location 96828651-96834812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96830085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 205 (Y205H)
Ref Sequence ENSEMBL: ENSMUSP00000018803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018803] [ENSMUST00000054311] [ENSMUST00000062172] [ENSMUST00000107629] [ENSMUST00000107633] [ENSMUST00000107636]
AlphaFold Q91XF0
Predicted Effect possibly damaging
Transcript: ENSMUST00000018803
AA Change: Y205H

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018803
Gene: ENSMUSG00000018659
AA Change: Y205H

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 probably benign
Transcript: ENSMUST00000054311
SMART Domains Protein: ENSMUSP00000056614
Gene: ENSMUSG00000047040

DomainStartEndE-ValueType
Pfam:ATAD4 6 88 3.7e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062172
SMART Domains Protein: ENSMUSP00000056647
Gene: ENSMUSG00000047040

DomainStartEndE-ValueType
Pfam:ATAD4 6 87 1.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107628
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000107633
SMART Domains Protein: ENSMUSP00000103259
Gene: ENSMUSG00000047040

DomainStartEndE-ValueType
Pfam:ATAD4 6 88 3.7e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107636
SMART Domains Protein: ENSMUSP00000103262
Gene: ENSMUSG00000047040

DomainStartEndE-ValueType
Pfam:ATAD4 6 88 3.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135825
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,745,180 (GRCm39) H1736L probably benign Het
App A G 16: 84,879,735 (GRCm39) C133R probably damaging Het
Atxn7l2 G T 3: 108,110,963 (GRCm39) C524* probably null Het
Cckbr T C 7: 105,084,130 (GRCm39) V288A probably benign Het
Ccr1l1 T C 9: 123,777,787 (GRCm39) Y220C probably damaging Het
Cdc42se2 A T 11: 54,614,417 (GRCm39) F47I possibly damaging Het
Cep290 T A 10: 100,403,950 (GRCm39) I2317N possibly damaging Het
Chrnd T C 1: 87,123,502 (GRCm39) S347P probably damaging Het
Clcn5 T A X: 7,029,565 (GRCm39) probably null Het
D6Wsu163e A G 6: 126,927,074 (GRCm39) D187G probably damaging Het
Dnajc13 T A 9: 104,044,634 (GRCm39) I1852F probably benign Het
Ecpas C T 4: 58,832,777 (GRCm39) G861D probably damaging Het
Fcnb A G 2: 27,966,646 (GRCm39) S296P possibly damaging Het
Fut2 C T 7: 45,300,073 (GRCm39) R233K probably benign Het
Gm21985 G A 2: 112,188,900 (GRCm39) V1078I possibly damaging Het
Gpc3 A T X: 51,486,090 (GRCm39) probably benign Het
Krt10 A G 11: 99,280,044 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,781 (GRCm39) E370G probably damaging Het
Myo5c A T 9: 75,163,148 (GRCm39) I326F possibly damaging Het
Neb A T 2: 52,066,653 (GRCm39) L5906Q probably damaging Het
Nrdc A T 4: 108,903,888 (GRCm39) probably benign Het
Nrip2 A G 6: 128,381,938 (GRCm39) N17S possibly damaging Het
Or51f2 T C 7: 102,527,279 (GRCm39) probably benign Het
Or6s1 T C 14: 51,308,467 (GRCm39) I128V probably benign Het
P2rx7 A G 5: 122,811,763 (GRCm39) Y358C possibly damaging Het
Pex10 A C 4: 155,152,354 (GRCm39) I61L probably benign Het
Phax T C 18: 56,713,364 (GRCm39) F248L probably damaging Het
Phtf2 A T 5: 20,987,397 (GRCm39) D366E probably damaging Het
Pparg T A 6: 115,416,833 (GRCm39) W9R probably damaging Het
Ppp4r3c2 G A X: 88,796,434 (GRCm39) G89S possibly damaging Het
Prex1 C T 2: 166,427,114 (GRCm39) S867N probably benign Het
Pyroxd2 T A 19: 42,736,001 (GRCm39) N59I possibly damaging Het
Rnf135 T A 11: 80,084,837 (GRCm39) S203R possibly damaging Het
Sall1 T A 8: 89,758,289 (GRCm39) N605I probably benign Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Slc25a14 T C X: 47,726,317 (GRCm39) S152P probably benign Het
Strip1 A T 3: 107,527,571 (GRCm39) F436I probably damaging Het
Tgfa T C 6: 86,248,403 (GRCm39) L135P probably benign Het
Tgif1 T C 17: 71,151,942 (GRCm39) Q170R possibly damaging Het
Tmc2 G A 2: 130,071,107 (GRCm39) E279K probably damaging Het
Tnks G T 8: 35,315,824 (GRCm39) N987K probably benign Het
Traf3ip3 T C 1: 192,876,676 (GRCm39) E209G probably damaging Het
Vmn2r73 T A 7: 85,519,468 (GRCm39) I497L probably benign Het
Wrn C A 8: 33,800,734 (GRCm39) probably null Het
Zcchc24 T C 14: 25,720,086 (GRCm39) I193V possibly damaging Het
Other mutations in Pnpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Pnpo APN 11 96,834,618 (GRCm39) missense possibly damaging 0.90
IGL01646:Pnpo APN 11 96,829,775 (GRCm39) missense possibly damaging 0.93
IGL01654:Pnpo APN 11 96,834,555 (GRCm39) critical splice donor site probably null
IGL02081:Pnpo APN 11 96,830,150 (GRCm39) missense probably damaging 0.99
IGL03153:Pnpo APN 11 96,834,661 (GRCm39) missense probably damaging 1.00
R0398:Pnpo UTSW 11 96,833,253 (GRCm39) nonsense probably null
R3917:Pnpo UTSW 11 96,830,583 (GRCm39) missense probably damaging 1.00
R4418:Pnpo UTSW 11 96,831,795 (GRCm39) splice site probably null
R5214:Pnpo UTSW 11 96,833,295 (GRCm39) missense probably benign 0.07
R5427:Pnpo UTSW 11 96,834,633 (GRCm39) missense probably benign 0.02
R9584:Pnpo UTSW 11 96,831,705 (GRCm39) nonsense probably null
X0052:Pnpo UTSW 11 96,834,634 (GRCm39) missense possibly damaging 0.71
Posted On 2016-08-02