Incidental Mutation 'IGL01946:Pdp2'
ID180971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdp2
Ensembl Gene ENSMUSG00000048371
Gene Namepyruvate dehyrogenase phosphatase catalytic subunit 2
Synonyms4833426J09Rik, LOC382051
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL01946
Quality Score
Status
Chromosome8
Chromosomal Location104591451-104599026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 104594192 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 224 (M224I)
Ref Sequence ENSEMBL: ENSMUSP00000092821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059588]
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

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,570,479 E343K possibly damaging Het
Abcc9 T C 6: 142,626,037 I1087V probably benign Het
Bcam A C 7: 19,760,117 Y416* probably null Het
Bhlhe22 T A 3: 18,055,796 C337S probably damaging Het
Cerkl T C 2: 79,393,020 D119G probably benign Het
Cog6 T C 3: 53,002,404 probably benign Het
Dchs1 T C 7: 105,759,105 D1840G probably damaging Het
Dhx16 G T 17: 35,885,504 M521I probably benign Het
Dnaja2 A G 8: 85,546,700 I196T probably damaging Het
Fbxw7 T C 3: 84,904,062 Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm3371 A G 14: 44,408,721 Y96H probably damaging Het
Gm884 T A 11: 103,612,933 R560S probably benign Het
H2-T10 G A 17: 36,120,716 A82V possibly damaging Het
Hydin A G 8: 110,490,718 T1413A possibly damaging Het
Krt23 T A 11: 99,492,839 M76L possibly damaging Het
Lipe A T 7: 25,383,276 M504K possibly damaging Het
Lta4h T A 10: 93,471,370 probably benign Het
Ltbp2 T C 12: 84,830,748 T348A probably damaging Het
Mybpc2 C A 7: 44,509,898 probably benign Het
Olfr550 T C 7: 102,578,527 probably null Het
Olfr582 T A 7: 103,042,150 S219T probably damaging Het
Pimreg C T 11: 72,044,978 probably benign Het
Pld1 A T 3: 28,124,617 S887C probably damaging Het
Ppp1r3g G A 13: 35,968,995 A133T possibly damaging Het
Prpf8 G A 11: 75,499,992 G1323D probably damaging Het
Rab3ip A G 10: 116,937,395 probably null Het
Rpain A G 11: 70,970,532 H9R possibly damaging Het
Scin T C 12: 40,060,491 probably benign Het
Serpinb6d A G 13: 33,671,386 T348A probably benign Het
Smad3 A G 9: 63,757,553 L42P probably damaging Het
Smr3a C T 5: 88,008,155 probably benign Het
Vmn2r13 G A 5: 109,174,219 T204I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfhx3 A G 8: 108,933,929 N1272D probably damaging Het
Other mutations in Pdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Pdp2 APN 8 104594197 missense probably benign
IGL01771:Pdp2 APN 8 104594122 missense probably benign 0.06
IGL02313:Pdp2 APN 8 104594899 missense probably benign 0.44
IGL02588:Pdp2 APN 8 104594904 missense possibly damaging 0.73
IGL02981:Pdp2 APN 8 104593635 missense probably benign 0.00
R0456:Pdp2 UTSW 8 104593789 missense probably damaging 1.00
R1260:Pdp2 UTSW 8 104594617 missense probably damaging 0.96
R1974:Pdp2 UTSW 8 104593906 missense probably benign
R3008:Pdp2 UTSW 8 104594266 missense probably benign 0.08
R4580:Pdp2 UTSW 8 104594944 missense probably damaging 1.00
R4655:Pdp2 UTSW 8 104594536 missense probably benign 0.03
R5677:Pdp2 UTSW 8 104594688 missense probably damaging 1.00
R6813:Pdp2 UTSW 8 104594499 missense probably damaging 1.00
R8176:Pdp2 UTSW 8 104595055 missense probably damaging 1.00
R8472:Pdp2 UTSW 8 104594281 missense probably benign 0.00
Posted On2014-05-07