Incidental Mutation 'IGL02588:Pdp2'
ID 299622
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 # IGL02588
Quality Score
Status
Chromosome 8
Chromosomal Location 105318104-105325658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105321536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 462 (K462E)
Ref Sequence ENSEMBL: ENSMUSP00000092821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059588]
AlphaFold Q504M2
Predicted Effect possibly damaging
Transcript: ENSMUST00000059588
AA Change: K462E

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: K462E

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,933,282 (GRCm39) W258* probably null Het
Ankmy2 T C 12: 36,226,685 (GRCm39) probably benign Het
Arhgap26 G T 18: 38,734,670 (GRCm39) probably benign Het
Aspscr1 A G 11: 120,568,357 (GRCm39) D60G possibly damaging Het
Cdh15 C A 8: 123,583,291 (GRCm39) Y31* probably null Het
Cnih3 A G 1: 181,237,269 (GRCm39) R76G probably benign Het
Cplx1 C A 5: 108,673,289 (GRCm39) R44L possibly damaging Het
Dhx57 T A 17: 80,576,300 (GRCm39) I597F probably damaging Het
Dnah17 G T 11: 117,916,479 (GRCm39) F4231L possibly damaging Het
Dst T G 1: 34,156,565 (GRCm39) L173R probably damaging Het
Fezf2 A T 14: 12,343,687 (GRCm38) Y353N probably damaging Het
Ghrhr T A 6: 55,360,395 (GRCm39) L247Q probably damaging Het
Gm10912 C T 2: 103,897,197 (GRCm39) probably benign Het
Gpcpd1 A T 2: 132,376,673 (GRCm39) L541H probably damaging Het
Gpld1 C T 13: 25,127,682 (GRCm39) T28I probably damaging Het
Lmf2 A T 15: 89,239,609 (GRCm39) probably null Het
Lratd2 T C 15: 60,694,999 (GRCm39) D249G probably damaging Het
Mex3c A G 18: 73,723,116 (GRCm39) N403S probably damaging Het
Nlrp1b A T 11: 71,073,105 (GRCm39) L246* probably null Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Nlrp4c A T 7: 6,087,647 (GRCm39) D760V probably benign Het
Nlrp4g T C 9: 124,348,843 (GRCm38) noncoding transcript Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Nuggc T A 14: 65,855,226 (GRCm39) probably benign Het
Or4c122 T C 2: 89,080,042 (GRCm39) probably benign Het
Or52d1 C T 7: 103,756,260 (GRCm39) T258I possibly damaging Het
Papolg T A 11: 23,840,252 (GRCm39) I75F probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Plod1 A T 4: 147,997,747 (GRCm39) L654* probably null Het
Ppp4r3b G T 11: 29,148,853 (GRCm39) G25* probably null Het
Ptch1 T C 13: 63,659,732 (GRCm39) D1307G probably benign Het
Ranbp17 A G 11: 33,167,361 (GRCm39) V1034A probably benign Het
Rbl2 T A 8: 91,813,712 (GRCm39) L319Q probably damaging Het
Retnlg A G 16: 48,693,255 (GRCm39) T11A probably benign Het
Rfc3 A T 5: 151,566,381 (GRCm39) F356Y possibly damaging Het
Rnf213 G T 11: 119,307,362 (GRCm39) C674F probably benign Het
Shcbp1l A G 1: 153,304,411 (GRCm39) K157E probably benign Het
Slc22a17 A G 14: 55,145,451 (GRCm39) C233R probably damaging Het
Slc38a9 A G 13: 112,834,511 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St14 C A 9: 31,001,329 (GRCm39) probably benign Het
Sympk G A 7: 18,776,550 (GRCm39) V481M probably benign Het
Timeless T A 10: 128,079,203 (GRCm39) L350Q probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ugt3a1 A T 15: 9,361,542 (GRCm39) H106L probably benign Het
Zbtb45 A T 7: 12,740,204 (GRCm39) C470* probably null Het
Other mutations in Pdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Pdp2 APN 8 105,320,829 (GRCm39) missense probably benign
IGL01771:Pdp2 APN 8 105,320,754 (GRCm39) missense probably benign 0.06
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
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 2015-04-16