Incidental Mutation 'IGL01771:Pdp2'
ID 153843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdp2
Ensembl Gene ENSMUSG00000048371
Gene Name pyruvate dehydrogenase phosphatase catalytic subunit 2
Synonyms LOC382051, 4833426J09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL01771
Quality Score
Status
Chromosome 8
Chromosomal Location 105318104-105325658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105320754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 201 (Y201F)
Ref Sequence ENSEMBL: ENSMUSP00000092821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059588]
AlphaFold Q504M2
Predicted Effect probably benign
Transcript: ENSMUST00000059588
AA Change: Y201F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: Y201F

DomainStartEndE-ValueType
PP2Cc 96 518 1.1e-92 SMART
PP2C_SIG 121 520 2.56e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,868,087 (GRCm39) W185R probably damaging Het
Frmd8 A G 19: 5,919,603 (GRCm39) L148P probably damaging Het
Gk5 T C 9: 96,059,488 (GRCm39) C447R probably damaging Het
Hip1r T A 5: 124,137,606 (GRCm39) V704D possibly damaging Het
Kcnj10 C A 1: 172,197,150 (GRCm39) H221Q probably benign Het
Klk1b8 A T 7: 43,604,290 (GRCm39) I253L probably damaging Het
Or10aa4-ps1 T C 1: 173,878,887 (GRCm39) probably benign Het
Or1ad8 A G 11: 50,898,593 (GRCm39) T265A probably benign Het
Or1e29 A T 11: 73,667,490 (GRCm39) I221N probably damaging Het
Or5ac22 T C 16: 59,134,891 (GRCm39) N293S probably damaging Het
Or8k40 C T 2: 86,584,626 (GRCm39) C152Y probably benign Het
Ppfia1 A T 7: 144,036,094 (GRCm39) I1112K probably benign Het
Ppwd1 A G 13: 104,353,624 (GRCm39) I378T probably damaging Het
Rhbdd1 T A 1: 82,355,313 (GRCm39) D248E probably benign Het
Sec14l5 T C 16: 4,996,494 (GRCm39) probably null Het
Sel1l3 T G 5: 53,279,183 (GRCm39) D960A probably damaging Het
Slc35f3 T C 8: 127,115,951 (GRCm39) Y293H probably benign Het
Wwc1 A G 11: 35,744,185 (GRCm39) probably null Het
Zan T C 5: 137,391,330 (GRCm39) N4718S unknown Het
Zfyve16 T C 13: 92,658,680 (GRCm39) I410M probably benign Het
Other mutations in Pdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Pdp2 APN 8 105,320,829 (GRCm39) missense probably benign
IGL01946:Pdp2 APN 8 105,320,824 (GRCm39) missense probably benign 0.00
IGL02313:Pdp2 APN 8 105,321,531 (GRCm39) missense probably benign 0.44
IGL02588:Pdp2 APN 8 105,321,536 (GRCm39) missense possibly damaging 0.73
IGL02981:Pdp2 APN 8 105,320,267 (GRCm39) missense probably benign 0.00
R0456:Pdp2 UTSW 8 105,320,421 (GRCm39) missense probably damaging 1.00
R1260:Pdp2 UTSW 8 105,321,249 (GRCm39) missense probably damaging 0.96
R1974:Pdp2 UTSW 8 105,320,538 (GRCm39) missense probably benign
R3008:Pdp2 UTSW 8 105,320,898 (GRCm39) missense probably benign 0.08
R4580:Pdp2 UTSW 8 105,321,576 (GRCm39) missense probably damaging 1.00
R4655:Pdp2 UTSW 8 105,321,168 (GRCm39) missense probably benign 0.03
R5677:Pdp2 UTSW 8 105,321,320 (GRCm39) missense probably damaging 1.00
R6813:Pdp2 UTSW 8 105,321,131 (GRCm39) missense probably damaging 1.00
R8176:Pdp2 UTSW 8 105,321,687 (GRCm39) missense probably damaging 1.00
R8472:Pdp2 UTSW 8 105,320,913 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04