Incidental Mutation 'IGL02672:Pdk1'
ID 302964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk1
Ensembl Gene ENSMUSG00000006494
Gene Name pyruvate dehydrogenase kinase, isoenzyme 1
Synonyms D530020C15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 2
Chromosomal Location 71703568-71734202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71726096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 335 (S335P)
Ref Sequence ENSEMBL: ENSMUSP00000006669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006669]
AlphaFold Q8BFP9
Predicted Effect probably damaging
Transcript: ENSMUST00000006669
AA Change: S335P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494
AA Change: S335P

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
Pfam:BCDHK_Adom3 56 218 6.4e-52 PFAM
HATPase_c 266 391 1.82e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156036
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Pdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Pdk1 APN 2 71,726,123 (GRCm39) missense probably benign 0.00
IGL01643:Pdk1 APN 2 71,728,049 (GRCm39) missense probably damaging 1.00
IGL02833:Pdk1 APN 2 71,727,989 (GRCm39) critical splice acceptor site probably null
IGL03271:Pdk1 APN 2 71,710,374 (GRCm39) splice site probably benign
IGL03400:Pdk1 APN 2 71,726,091 (GRCm39) missense probably benign 0.25
R0329:Pdk1 UTSW 2 71,726,018 (GRCm39) splice site probably benign
R0564:Pdk1 UTSW 2 71,710,383 (GRCm39) nonsense probably null
R1653:Pdk1 UTSW 2 71,719,339 (GRCm39) critical splice donor site probably null
R2570:Pdk1 UTSW 2 71,703,904 (GRCm39) missense possibly damaging 0.56
R5137:Pdk1 UTSW 2 71,713,913 (GRCm39) missense possibly damaging 0.90
R5932:Pdk1 UTSW 2 71,713,760 (GRCm39) splice site probably null
R6109:Pdk1 UTSW 2 71,713,850 (GRCm39) missense probably benign 0.23
R7107:Pdk1 UTSW 2 71,726,085 (GRCm39) missense probably benign 0.00
R7227:Pdk1 UTSW 2 71,714,245 (GRCm39) missense possibly damaging 0.75
R7663:Pdk1 UTSW 2 71,705,742 (GRCm39) splice site probably null
R8011:Pdk1 UTSW 2 71,705,796 (GRCm39) missense probably benign 0.05
R9178:Pdk1 UTSW 2 71,730,402 (GRCm39) missense probably benign 0.00
RF020:Pdk1 UTSW 2 71,714,240 (GRCm39) missense possibly damaging 0.84
RF060:Pdk1 UTSW 2 71,703,789 (GRCm39) small deletion probably benign
Posted On 2015-04-16