Incidental Mutation 'R8436:Pdk2'
ID 654011
Institutional Source Beutler Lab
Gene Symbol Pdk2
Ensembl Gene ENSMUSG00000038967
Gene Name pyruvate dehydrogenase kinase, isoenzyme 2
Synonyms
MMRRC Submission 067777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8436 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94917084-94932180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94930259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 59 (V59D)
Ref Sequence ENSEMBL: ENSMUSP00000041447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431]
AlphaFold Q9JK42
Predicted Effect probably damaging
Transcript: ENSMUST00000038431
AA Change: V59D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: V59D

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 30 192 3.8e-52 PFAM
HATPase_c 240 364 9.32e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle contractile force. [provided by MGI curators]
Allele List at MGI

none

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,936 (GRCm39) I1278V possibly damaging Het
Baz1b A G 5: 135,266,821 (GRCm39) H1210R probably damaging Het
Cdt1 C T 8: 123,296,070 (GRCm39) S128L probably benign Het
Cfap54 A T 10: 92,800,398 (GRCm39) N1603K unknown Het
Cfap99 A G 5: 34,469,026 (GRCm39) N300S possibly damaging Het
Chrdl2 G A 7: 99,676,940 (GRCm39) probably null Het
Cpb2 C A 14: 75,510,015 (GRCm39) F258L probably damaging Het
Csmd3 A T 15: 47,868,218 (GRCm39) D767E probably damaging Het
Dennd3 C T 15: 73,434,198 (GRCm39) T956I probably damaging Het
Emcn A G 3: 137,129,228 (GRCm39) T245A possibly damaging Het
Gm4353 A G 7: 115,682,864 (GRCm39) V239A probably damaging Het
Gm4884 G A 7: 40,692,810 (GRCm39) A260T probably damaging Het
Hectd4 A G 5: 121,446,421 (GRCm39) D205G possibly damaging Het
Hectd4 A G 5: 121,481,210 (GRCm39) S3005G probably benign Het
Ifngr1 T C 10: 19,479,553 (GRCm39) L148P probably damaging Het
Irf2 C T 8: 47,271,929 (GRCm39) T172M probably damaging Het
Irs1 T C 1: 82,267,970 (GRCm39) H82R possibly damaging Het
Kcnc4 G T 3: 107,366,084 (GRCm39) N41K probably damaging Het
Lig3 C T 11: 82,682,870 (GRCm39) A490V possibly damaging Het
Megf6 G A 4: 154,349,649 (GRCm39) E946K probably damaging Het
Mpi A T 9: 57,452,200 (GRCm39) Y359N probably damaging Het
Nf1 A G 11: 79,349,709 (GRCm39) S1365G probably damaging Het
P3h3 C A 6: 124,828,041 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,683,613 (GRCm39) K168R probably benign Het
Prg4 G T 1: 150,331,318 (GRCm39) P452T unknown Het
Prl2b1 T C 13: 27,567,442 (GRCm39) N234S possibly damaging Het
Rnd1 T A 15: 98,574,455 (GRCm39) T41S possibly damaging Het
Sall4 G A 2: 168,597,830 (GRCm39) P337S probably damaging Het
Slc1a2 G A 2: 102,586,298 (GRCm39) A301T possibly damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Svep1 G A 4: 58,044,053 (GRCm39) T3531I possibly damaging Het
Sycp2 T C 2: 178,004,761 (GRCm39) D894G probably benign Het
Syne1 T C 10: 5,178,659 (GRCm39) N4605S probably benign Het
Syt4 A C 18: 31,573,472 (GRCm39) C348G possibly damaging Het
Tceanc2 G A 4: 107,034,778 (GRCm39) T28M probably damaging Het
Tmco1 A G 1: 167,136,254 (GRCm39) D5G Het
Tnfsf12 T C 11: 69,577,713 (GRCm39) K235E probably damaging Het
Trank1 T C 9: 111,220,450 (GRCm39) S2396P possibly damaging Het
Vipas39 T A 12: 87,304,191 (GRCm39) D125V probably damaging Het
Vmn1r86 A G 7: 12,836,771 (GRCm39) F35S probably benign Het
Vmn2r16 A G 5: 109,511,649 (GRCm39) N619D probably damaging Het
Vps13a A G 19: 16,718,157 (GRCm39) V521A probably benign Het
Wdr20rt T A 12: 65,273,035 (GRCm39) L166Q probably damaging Het
Zbtb11 T A 16: 55,821,022 (GRCm39) C706* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zscan21 A T 5: 138,116,178 (GRCm39) Y30F unknown Het
Other mutations in Pdk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Pdk2 APN 11 94,922,761 (GRCm39) missense probably benign
IGL01489:Pdk2 APN 11 94,922,848 (GRCm39) critical splice acceptor site probably null
IGL01538:Pdk2 APN 11 94,918,111 (GRCm39) missense probably damaging 1.00
IGL02057:Pdk2 APN 11 94,919,324 (GRCm39) missense probably benign 0.00
IGL02439:Pdk2 APN 11 94,930,323 (GRCm39) unclassified probably benign
IGL02539:Pdk2 APN 11 94,923,321 (GRCm39) missense probably benign 0.05
IGL02551:Pdk2 APN 11 94,919,412 (GRCm39) missense probably benign 0.01
B5639:Pdk2 UTSW 11 94,923,324 (GRCm39) missense possibly damaging 0.57
R0063:Pdk2 UTSW 11 94,923,306 (GRCm39) missense probably benign
R0063:Pdk2 UTSW 11 94,923,306 (GRCm39) missense probably benign
R0864:Pdk2 UTSW 11 94,918,759 (GRCm39) missense probably damaging 1.00
R1435:Pdk2 UTSW 11 94,922,721 (GRCm39) missense probably damaging 1.00
R1704:Pdk2 UTSW 11 94,919,376 (GRCm39) missense possibly damaging 0.75
R2114:Pdk2 UTSW 11 94,918,088 (GRCm39) missense probably damaging 1.00
R2566:Pdk2 UTSW 11 94,918,028 (GRCm39) splice site probably null
R3613:Pdk2 UTSW 11 94,918,072 (GRCm39) missense probably benign 0.39
R4259:Pdk2 UTSW 11 94,931,970 (GRCm39) missense probably benign 0.17
R5051:Pdk2 UTSW 11 94,919,598 (GRCm39) missense probably benign 0.29
R5055:Pdk2 UTSW 11 94,930,242 (GRCm39) missense probably benign 0.18
R5457:Pdk2 UTSW 11 94,919,408 (GRCm39) missense probably damaging 0.98
R5512:Pdk2 UTSW 11 94,930,292 (GRCm39) missense probably damaging 1.00
R5570:Pdk2 UTSW 11 94,920,826 (GRCm39) missense probably damaging 0.98
R5687:Pdk2 UTSW 11 94,919,851 (GRCm39) unclassified probably benign
R6328:Pdk2 UTSW 11 94,930,228 (GRCm39) missense possibly damaging 0.72
R6675:Pdk2 UTSW 11 94,919,568 (GRCm39) missense probably benign 0.00
R7658:Pdk2 UTSW 11 94,919,791 (GRCm39) missense probably damaging 1.00
R8809:Pdk2 UTSW 11 94,923,339 (GRCm39) missense probably damaging 1.00
R9260:Pdk2 UTSW 11 94,930,260 (GRCm39) missense probably damaging 1.00
Z1176:Pdk2 UTSW 11 94,918,744 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TAACTCTCCAGCCTCTTGGG -3'
(R):5'- TGGGGAAAACTCAAGCATCGC -3'

Sequencing Primer
(F):5'- CTCTTGGGGCCCCTGTG -3'
(R):5'- CTCAAGCATCGCAAGGCTAGG -3'
Posted On 2020-10-20