Incidental Mutation 'IGL01946:Pdp2'
ID 180971
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 # IGL01946
Quality Score
Chromosome 8
Chromosomal Location 105318104-105325658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105320824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 224 (M224I)
Ref Sequence ENSEMBL: ENSMUSP00000092821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059588]
AlphaFold Q504M2
Predicted Effect probably benign
Transcript: ENSMUST00000059588
AA Change: M224I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: M224I

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,547,442 (GRCm39) E343K possibly damaging Het
Abcc9 T C 6: 142,571,763 (GRCm39) I1087V probably benign Het
Bcam A C 7: 19,494,042 (GRCm39) Y416* probably null Het
Bhlhe22 T A 3: 18,109,960 (GRCm39) C337S probably damaging Het
Cerkl T C 2: 79,223,364 (GRCm39) D119G probably benign Het
Cog6 T C 3: 52,909,825 (GRCm39) probably benign Het
Dchs1 T C 7: 105,408,312 (GRCm39) D1840G probably damaging Het
Dhx16 G T 17: 36,196,396 (GRCm39) M521I probably benign Het
Dnaja2 A G 8: 86,273,329 (GRCm39) I196T probably damaging Het
Fbxw7 T C 3: 84,811,369 (GRCm39) Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3371 A G 14: 44,646,178 (GRCm39) Y96H probably damaging Het
H2-T10 G A 17: 36,431,608 (GRCm39) A82V possibly damaging Het
Hydin A G 8: 111,217,350 (GRCm39) T1413A possibly damaging Het
Krt23 T A 11: 99,383,665 (GRCm39) M76L possibly damaging Het
Lipe A T 7: 25,082,701 (GRCm39) M504K possibly damaging Het
Lrrc37 T A 11: 103,503,759 (GRCm39) R560S probably benign Het
Lta4h T A 10: 93,307,232 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,877,522 (GRCm39) T348A probably damaging Het
Mybpc2 C A 7: 44,159,322 (GRCm39) probably benign Het
Or51r1 T C 7: 102,227,734 (GRCm39) probably null Het
Or52r1b T A 7: 102,691,357 (GRCm39) S219T probably damaging Het
Pimreg C T 11: 71,935,804 (GRCm39) probably benign Het
Pld1 A T 3: 28,178,766 (GRCm39) S887C probably damaging Het
Ppp1r3g G A 13: 36,152,978 (GRCm39) A133T possibly damaging Het
Prpf8 G A 11: 75,390,818 (GRCm39) G1323D probably damaging Het
Rab3ip A G 10: 116,773,300 (GRCm39) probably null Het
Rpain A G 11: 70,861,358 (GRCm39) H9R possibly damaging Het
Scin T C 12: 40,110,490 (GRCm39) probably benign Het
Serpinb6d A G 13: 33,855,369 (GRCm39) T348A probably benign Het
Smad3 A G 9: 63,664,835 (GRCm39) L42P probably damaging Het
Smr3a C T 5: 88,156,014 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r13 G A 5: 109,322,085 (GRCm39) T204I probably benign Het
Zfhx3 A G 8: 109,660,561 (GRCm39) N1272D probably damaging 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
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 2014-05-07