Incidental Mutation 'R6109:Pdk1'
ID 484701
Institutional Source Beutler Lab
Gene Symbol Pdk1
Ensembl Gene ENSMUSG00000006494
Gene Name pyruvate dehydrogenase kinase, isoenzyme 1
Synonyms D530020C15Rik
MMRRC Submission 044259-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6109 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 71703568-71734202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71713850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 165 (E165G)
Ref Sequence ENSEMBL: ENSMUSP00000006669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006669]
AlphaFold Q8BFP9
Predicted Effect probably benign
Transcript: ENSMUST00000006669
AA Change: E165G

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494
AA Change: E165G

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: ENSMUST00000129887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156036
Meta Mutation Damage Score 0.2698 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,621,303 (GRCm39) Y950C probably benign Het
Acadm A G 3: 153,647,580 (GRCm39) C20R probably damaging Het
Agtpbp1 G T 13: 59,621,560 (GRCm39) T984K probably damaging Het
Agxt2 C T 15: 10,377,508 (GRCm39) T136I probably damaging Het
Ankrd36 C A 11: 5,578,941 (GRCm39) N68K probably damaging Het
Ap3b2 T A 7: 81,143,340 (GRCm39) D10V possibly damaging Het
Apcdd1 A T 18: 63,070,437 (GRCm39) I235F probably damaging Het
Arhgap32 T A 9: 32,171,407 (GRCm39) W1396R probably damaging Het
Ascc3 A G 10: 50,525,343 (GRCm39) T513A probably benign Het
Aym1 C T 5: 113,505,407 (GRCm39) L9F unknown Het
Btnl10 C A 11: 58,811,130 (GRCm39) S151Y probably damaging Het
Camk2a A T 18: 61,076,306 (GRCm39) K95* probably null Het
Ccdc40 T C 11: 119,122,804 (GRCm39) V202A probably benign Het
Cd200r3 T A 16: 44,774,045 (GRCm39) D152E probably benign Het
Cd2bp2 C T 7: 126,793,987 (GRCm39) D101N probably damaging Het
Cdh20 G A 1: 104,921,739 (GRCm39) D679N probably damaging Het
Clpx C T 9: 65,207,234 (GRCm39) T44I probably benign Het
Cnnm4 T G 1: 36,537,560 (GRCm39) V541G probably damaging Het
Csmd1 T C 8: 16,249,874 (GRCm39) I1035V possibly damaging Het
Ctsw T C 19: 5,517,147 (GRCm39) S62G probably benign Het
Dlk2 T A 17: 46,612,623 (GRCm39) Y109N probably damaging Het
Ebf3 C T 7: 136,807,955 (GRCm39) V363M probably damaging Het
Farsb A G 1: 78,439,907 (GRCm39) probably null Het
Fastkd3 C T 13: 68,738,337 (GRCm39) Q32* probably null Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxl3 C A 5: 138,805,850 (GRCm39) Q6K probably damaging Het
Gk5 C A 9: 96,022,663 (GRCm39) F166L probably benign Het
Gm11271 G T 13: 21,565,309 (GRCm39) noncoding transcript Het
Gnat2 T A 3: 108,007,451 (GRCm39) Y290N probably damaging Het
H2-D1 A T 17: 35,482,913 (GRCm39) I148F probably damaging Het
Hdac2 A G 10: 36,862,385 (GRCm39) D83G probably null Het
Kdm5d T C Y: 921,501 (GRCm39) W500R probably damaging Het
Kel A T 6: 41,665,796 (GRCm39) F489I probably benign Het
Kmo C A 1: 175,465,474 (GRCm39) A76E possibly damaging Het
Krt32 T C 11: 99,978,791 (GRCm39) T88A probably benign Het
Lce3b A G 3: 92,840,994 (GRCm39) T30A unknown Het
Lcn11 A G 2: 25,669,308 (GRCm39) H155R possibly damaging Het
Lmln T A 16: 32,889,481 (GRCm39) I129N possibly damaging Het
Meiob A G 17: 25,031,993 (GRCm39) K3E probably benign Het
Mitf C T 6: 97,973,429 (GRCm39) T229M probably damaging Het
Ms4a20 T C 19: 11,079,276 (GRCm39) M131V possibly damaging Het
Muc16 T C 9: 18,566,655 (GRCm39) I1955V unknown Het
Naip1 A G 13: 100,563,690 (GRCm39) C492R probably damaging Het
Ncor2 C T 5: 125,132,910 (GRCm39) A26T probably damaging Het
Ngfr T G 11: 95,468,883 (GRCm39) D165A probably damaging Het
Nobox A T 6: 43,282,103 (GRCm39) S323R probably damaging Het
Or51ac3 T C 7: 103,214,346 (GRCm39) I47V probably benign Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or8g23 A G 9: 38,971,492 (GRCm39) S157P probably benign Het
Pcdhb1 G T 18: 37,398,306 (GRCm39) V86F possibly damaging Het
Peak1 C T 9: 56,166,567 (GRCm39) V454I probably benign Het
Rad9b C T 5: 122,482,360 (GRCm39) G125D probably damaging Het
S100a16 T C 3: 90,449,381 (GRCm39) F19L probably damaging Het
Serpine2 T C 1: 79,788,388 (GRCm39) K190E probably damaging Het
Slf1 A T 13: 77,274,799 (GRCm39) M12K probably damaging Het
Tex101 T C 7: 24,367,738 (GRCm39) T205A possibly damaging Het
Tssk5 T C 15: 76,257,916 (GRCm39) E147G probably damaging Het
Ubr4 A G 4: 139,144,675 (GRCm39) T1495A probably damaging Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Wdr70 A T 15: 8,108,638 (GRCm39) probably null Het
Zfp811 T A 17: 33,016,348 (GRCm39) probably null Het
Zscan10 T A 17: 23,826,103 (GRCm39) F88L probably damaging 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
IGL02672:Pdk1 APN 2 71,726,096 (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
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
Predicted Primers PCR Primer
(F):5'- TCCATTCTCTGAAGGAGGGC -3'
(R):5'- CTTTGAAGAGCAGTAATGTTCACTC -3'

Sequencing Primer
(F):5'- CCATTCTCTGAAGGAGGGCTTTTTG -3'
(R):5'- GCAGTAATGTTCACTCTAATAAAGGG -3'
Posted On 2017-08-16