Incidental Mutation 'IGL02313:Pdp2'
ID 287909
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: 0.116) question?
Stock # IGL02313
Quality Score
Status
Chromosome 8
Chromosomal Location 105318104-105325658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105321531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 460 (Q460L)
Ref Sequence ENSEMBL: ENSMUSP00000092821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059588]
AlphaFold Q504M2
Predicted Effect probably benign
Transcript: ENSMUST00000059588
AA Change: Q460L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: Q460L

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,653,571 (GRCm39) N136K probably damaging Het
Aph1b A T 9: 66,697,955 (GRCm39) probably benign Het
Atf7ip A G 6: 136,583,718 (GRCm39) K1250E probably damaging Het
Atp8b2 T C 3: 89,857,160 (GRCm39) N400S probably damaging Het
Brca2 C A 5: 150,462,126 (GRCm39) S630Y probably damaging Het
Chd6 T A 2: 160,807,595 (GRCm39) E1873V probably damaging Het
Chrna10 T C 7: 101,761,236 (GRCm39) probably benign Het
Col6a3 A G 1: 90,739,328 (GRCm39) L907P probably damaging Het
Cxcr6 A G 9: 123,639,770 (GRCm39) N264S probably damaging Het
Cyria A G 12: 12,414,752 (GRCm39) T248A possibly damaging Het
Dgkg A G 16: 22,388,980 (GRCm39) probably benign Het
Dpysl2 T G 14: 67,061,839 (GRCm39) M256L probably benign Het
Dsp G T 13: 38,380,499 (GRCm39) E1816* probably null Het
Fam13b T C 18: 34,587,709 (GRCm39) K530E probably damaging Het
Fastk T C 5: 24,648,090 (GRCm39) H242R probably damaging Het
Fbxw28 A T 9: 109,166,420 (GRCm39) H145Q possibly damaging Het
Heatr6 T C 11: 83,669,718 (GRCm39) L910P probably damaging Het
Hmcn2 A G 2: 31,343,617 (GRCm39) T4642A possibly damaging Het
Hspg2 A G 4: 137,235,700 (GRCm39) T167A probably benign Het
Igsf10 A G 3: 59,238,111 (GRCm39) L690P probably benign Het
Klhdc10 G A 6: 30,439,865 (GRCm39) probably null Het
Krt31 A G 11: 99,939,222 (GRCm39) Y232H probably damaging Het
Lsm3 A G 6: 91,493,070 (GRCm39) probably benign Het
Mfn2 T A 4: 147,969,947 (GRCm39) I375F probably damaging Het
Mfrp A T 9: 44,014,171 (GRCm39) I180F probably damaging Het
Msh3 T C 13: 92,485,820 (GRCm39) E168G possibly damaging Het
Naa16 A T 14: 79,622,108 (GRCm39) V77D probably damaging Het
Nav2 T C 7: 49,208,521 (GRCm39) S1570P probably damaging Het
Niban3 A G 8: 72,055,504 (GRCm39) R305G possibly damaging Het
Numa1 C T 7: 101,649,439 (GRCm39) R1057* probably null Het
Nup210l G A 3: 90,030,099 (GRCm39) A271T probably damaging Het
Ogdh T C 11: 6,305,400 (GRCm39) V965A probably damaging Het
Or10h28 C A 17: 33,488,639 (GRCm39) Q314K probably benign Het
Or4m1 A T 14: 50,557,473 (GRCm39) V273E probably damaging Het
Or6c219 A G 10: 129,781,772 (GRCm39) L53P probably damaging Het
Or7g21 A T 9: 19,032,671 (GRCm39) N140I probably damaging Het
Or8b51 T A 9: 38,569,362 (GRCm39) I109F probably damaging Het
Pex5l T C 3: 33,047,141 (GRCm39) T270A probably benign Het
Pkp4 C T 2: 59,140,598 (GRCm39) Q435* probably null Het
Prss32 G A 17: 24,075,096 (GRCm39) V149M probably benign Het
Riox2 C A 16: 59,309,780 (GRCm39) P378Q probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rsph4a T A 10: 33,781,521 (GRCm39) S124T possibly damaging Het
Sdccag8 G A 1: 176,652,321 (GRCm39) R24H possibly damaging Het
Slc22a1 C A 17: 12,894,387 (GRCm39) G54* probably null Het
Slc24a5 C T 2: 124,927,567 (GRCm39) probably benign Het
Tex101 C T 7: 24,367,750 (GRCm39) V201M probably damaging Het
Tmprss7 T C 16: 45,501,956 (GRCm39) Y223C probably damaging Het
Trpc4ap T C 2: 155,492,388 (GRCm39) E382G probably damaging Het
Uggt1 A T 1: 36,223,565 (GRCm39) Y575N probably damaging Het
Vmn2r70 T C 7: 85,214,376 (GRCm39) I259V probably damaging Het
Xpo1 T A 11: 23,227,065 (GRCm39) N131K probably damaging Het
Zfp579 C T 7: 4,997,432 (GRCm39) V160M probably benign Het
Zfp697 A G 3: 98,332,766 (GRCm39) D64G probably benign Het
Zfp974 T C 7: 27,611,678 (GRCm39) T16A possibly 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
IGL01946:Pdp2 APN 8 105,320,824 (GRCm39) missense probably benign 0.00
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 2015-04-16