Incidental Mutation 'R1653:Pdk1'
ID 188834
Institutional Source Beutler Lab
Gene Symbol Pdk1
Ensembl Gene ENSMUSG00000006494
Gene Name pyruvate dehydrogenase kinase, isoenzyme 1
Synonyms
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 71873224-71903858 bp(+) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 71888995 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006669]
AlphaFold Q8BFP9
Predicted Effect probably null
Transcript: ENSMUST00000006669
SMART Domains Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494

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: ENSMUST00000134362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156036
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 43,650,645 (GRCm38) C654* probably null Het
Adamts19 T A 18: 58,890,293 (GRCm38) N253K probably benign Het
Adgrb3 A G 1: 25,101,503 (GRCm38) L1162S probably benign Het
Ap2b1 T A 11: 83,346,831 (GRCm38) Y574N probably damaging Het
Atrn A G 2: 130,935,624 (GRCm38) I198V probably benign Het
Bcan T A 3: 87,994,196 (GRCm38) I400F probably damaging Het
Capn10 A G 1: 92,946,898 (GRCm38) Y617C probably damaging Het
Capn8 A G 1: 182,623,951 (GRCm38) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm38) L309P probably benign Het
Ccser1 T A 6: 61,311,465 (GRCm38) I204K probably benign Het
Cd276 T C 9: 58,537,449 (GRCm38) T80A probably benign Het
Cdh3 T C 8: 106,539,068 (GRCm38) S248P probably damaging Het
Celsr2 T C 3: 108,413,520 (GRCm38) T659A possibly damaging Het
Col6a4 C T 9: 106,072,409 (GRCm38) V676I probably damaging Het
Crmp1 T A 5: 37,286,468 (GRCm38) V575D probably damaging Het
Ep400 G A 5: 110,693,174 (GRCm38) Q1795* probably null Het
Gcnt3 A G 9: 70,035,077 (GRCm38) C70R probably damaging Het
Gm12258 T C 11: 58,858,287 (GRCm38) I96T possibly damaging Het
Gpr183 A G 14: 121,954,263 (GRCm38) F282S probably damaging Het
Igfals T C 17: 24,881,078 (GRCm38) V381A probably benign Het
Irs3 C A 5: 137,644,521 (GRCm38) L218F probably damaging Het
Kdm5b T C 1: 134,602,481 (GRCm38) F410S probably damaging Het
Klc4 T C 17: 46,631,859 (GRCm38) Y593C possibly damaging Het
Lce1h T A 3: 92,763,443 (GRCm38) Q134L unknown Het
Lyst T C 13: 13,635,226 (GRCm38) S494P probably damaging Het
Marchf3 A G 18: 56,811,895 (GRCm38) M42T probably benign Het
Myh7 A G 14: 54,990,789 (GRCm38) I250T probably benign Het
N4bp1 G T 8: 86,844,948 (GRCm38) H807Q probably benign Het
Ndn C T 7: 62,348,508 (GRCm38) P34L probably benign Het
Nfs1 C T 2: 156,125,336 (GRCm38) G44D probably damaging Het
Nrg1 C T 8: 31,818,653 (GRCm38) R445H probably damaging Het
Or14c43 T C 7: 86,466,212 (GRCm38) V267A probably benign Het
Or4e5 A T 14: 52,490,772 (GRCm38) F64Y probably damaging Het
Or56a5 T A 7: 105,143,870 (GRCm38) D141V possibly damaging Het
Pak5 C T 2: 136,116,887 (GRCm38) V94M probably damaging Het
Sin3b G T 8: 72,741,519 (GRCm38) V290L probably benign Het
Sirt1 T C 10: 63,321,809 (GRCm38) T609A probably benign Het
Skint5 A T 4: 113,490,678 (GRCm38) S1289T unknown Het
Slc32a1 A T 2: 158,614,889 (GRCm38) H488L probably benign Het
Slc35b3 A G 13: 38,955,798 (GRCm38) S18P probably benign Het
Spaca7 T A 8: 12,586,501 (GRCm38) I109K possibly damaging Het
Tmem204 A G 17: 25,080,527 (GRCm38) L6P possibly damaging Het
Tubgcp6 G A 15: 89,107,442 (GRCm38) R651C probably damaging Het
Vps13b T A 15: 35,607,272 (GRCm38) L1117* probably null Het
Wdcp T C 12: 4,851,815 (GRCm38) L557P probably damaging Het
Wwp2 T C 8: 107,483,410 (GRCm38) F140S possibly damaging Het
Zfp429 C T 13: 67,389,924 (GRCm38) R467H possibly damaging Het
Zfp747l1 G T 7: 127,384,480 (GRCm38) H483Q possibly damaging Het
Zfp839 T A 12: 110,855,250 (GRCm38) M166K probably benign Het
Zfyve9 G A 4: 108,660,577 (GRCm38) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,974,158 (GRCm38) C311S probably damaging Het
Other mutations in Pdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Pdk1 APN 2 71,895,779 (GRCm38) missense probably benign 0.00
IGL01643:Pdk1 APN 2 71,897,705 (GRCm38) missense probably damaging 1.00
IGL02672:Pdk1 APN 2 71,895,752 (GRCm38) missense probably damaging 1.00
IGL02833:Pdk1 APN 2 71,897,645 (GRCm38) critical splice acceptor site probably null
IGL03271:Pdk1 APN 2 71,880,030 (GRCm38) splice site probably benign
IGL03400:Pdk1 APN 2 71,895,747 (GRCm38) missense probably benign 0.25
R0329:Pdk1 UTSW 2 71,895,674 (GRCm38) splice site probably benign
R0564:Pdk1 UTSW 2 71,880,039 (GRCm38) nonsense probably null
R2570:Pdk1 UTSW 2 71,873,560 (GRCm38) missense possibly damaging 0.56
R5137:Pdk1 UTSW 2 71,883,569 (GRCm38) missense possibly damaging 0.90
R5932:Pdk1 UTSW 2 71,883,416 (GRCm38) splice site probably null
R6109:Pdk1 UTSW 2 71,883,506 (GRCm38) missense probably benign 0.23
R7107:Pdk1 UTSW 2 71,895,741 (GRCm38) missense probably benign 0.00
R7227:Pdk1 UTSW 2 71,883,901 (GRCm38) missense possibly damaging 0.75
R7663:Pdk1 UTSW 2 71,875,398 (GRCm38) splice site probably null
R8011:Pdk1 UTSW 2 71,875,452 (GRCm38) missense probably benign 0.05
R9178:Pdk1 UTSW 2 71,900,058 (GRCm38) missense probably benign 0.00
RF020:Pdk1 UTSW 2 71,883,896 (GRCm38) missense possibly damaging 0.84
RF060:Pdk1 UTSW 2 71,873,445 (GRCm38) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- AGTGTCACAGGTCCTGTCACTAGC -3'
(R):5'- GATCAAAGTCTGCCTCCAGTGTTCC -3'

Sequencing Primer
(F):5'- GTCACTAGCCCGTGCTTAG -3'
(R):5'- AGTGTTCCTTCAACCCGAATC -3'
Posted On 2014-05-09