Incidental Mutation 'IGL02981:Pdp2'
ID 406542
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 # IGL02981
Quality Score
Status
Chromosome 8
Chromosomal Location 105318104-105325658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105320267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 39 (W39R)
Ref Sequence ENSEMBL: ENSMUSP00000092821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059588]
AlphaFold Q504M2
Predicted Effect probably benign
Transcript: ENSMUST00000059588
AA Change: W39R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: W39R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A G 2: 150,675,044 (GRCm39) S392P probably benign Het
Adam23 G A 1: 63,610,112 (GRCm39) V705I probably damaging Het
Ank2 T G 3: 126,728,211 (GRCm39) D794A possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aqr T C 2: 113,965,305 (GRCm39) probably benign Het
Atp9b A G 18: 80,797,504 (GRCm39) V857A possibly damaging Het
Banp T C 8: 122,705,303 (GRCm39) Y58H possibly damaging Het
Cacna1e T A 1: 154,347,171 (GRCm39) N999Y probably benign Het
Cd14 T C 18: 36,859,532 (GRCm39) probably benign Het
Crmp1 T C 5: 37,443,770 (GRCm39) I447T probably damaging Het
Dip2a A G 10: 76,112,255 (GRCm39) V1090A possibly damaging Het
Ep400 T A 5: 110,903,969 (GRCm39) H210L possibly damaging Het
Ep400 T A 5: 110,839,476 (GRCm39) probably benign Het
Fam243 T C 16: 92,117,757 (GRCm39) N177S probably benign Het
Fbxw26 A G 9: 109,573,862 (GRCm39) F97L probably benign Het
Fut8 C A 12: 77,521,812 (GRCm39) P484T probably damaging Het
Golph3 A G 15: 12,349,550 (GRCm39) E190G probably benign Het
Hectd1 A T 12: 51,815,670 (GRCm39) D1472E possibly damaging Het
Hnrnpdl T C 5: 100,184,958 (GRCm39) I298V possibly damaging Het
Jakmip2 C A 18: 43,695,595 (GRCm39) probably null Het
Kcnj5 G A 9: 32,233,877 (GRCm39) T146I probably damaging Het
Lyst T G 13: 13,809,496 (GRCm39) F389V probably damaging Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Myo3b T C 2: 69,938,969 (GRCm39) V114A probably damaging Het
Or10a2 C A 7: 106,673,758 (GRCm39) T241N probably damaging Het
Pappa2 C T 1: 158,678,714 (GRCm39) G901R probably benign Het
Patz1 T C 11: 3,240,656 (GRCm39) Y15H probably damaging Het
Poc5 T C 13: 96,538,265 (GRCm39) probably null Het
Pou3f1 A G 4: 124,552,236 (GRCm39) D246G probably damaging Het
Pramel5 T A 4: 143,999,430 (GRCm39) Y219F probably benign Het
Prrc2c C T 1: 162,532,748 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,676,670 (GRCm39) K678E probably damaging Het
Rps2 T C 17: 24,940,698 (GRCm39) F271L probably benign Het
Serpina3k C A 12: 104,307,250 (GRCm39) Q161K probably benign Het
Serpinb6b A G 13: 33,155,589 (GRCm39) T101A probably benign Het
Tprkb T A 6: 85,904,861 (GRCm39) D112E probably benign Het
Tubal3 A G 13: 3,983,257 (GRCm39) T346A probably benign Het
Vwde A G 6: 13,193,112 (GRCm39) F409S possibly damaging Het
Zbtb6 G A 2: 37,319,176 (GRCm39) Q251* 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
IGL02588:Pdp2 APN 8 105,321,536 (GRCm39) missense possibly damaging 0.73
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 2016-08-02