Incidental Mutation 'R7995:Pdk4'
ID 616019
Institutional Source Beutler Lab
Gene Symbol Pdk4
Ensembl Gene ENSMUSG00000019577
Gene Name pyruvate dehydrogenase kinase, isoenzyme 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 5483351-5496278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5487093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 318 (V318M)
Ref Sequence ENSEMBL: ENSMUSP00000019721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019721] [ENSMUST00000203347]
AlphaFold O70571
Predicted Effect probably benign
Transcript: ENSMUST00000019721
AA Change: V318M

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: V318M

DomainStartEndE-ValueType
low complexity region 10 19 N/A INTRINSIC
Pfam:BCDHK_Adom3 34 195 1.2e-51 PFAM
HATPase_c 243 368 2.05e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203347
SMART Domains Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 1 99 2.3e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 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 is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose homoeostasis during starvation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,528 (GRCm39) T137S unknown Het
Apbb1 T C 7: 105,214,852 (GRCm39) D462G probably benign Het
Arhgef1 T G 7: 24,618,641 (GRCm39) L387R probably damaging Het
Ass1 A G 2: 31,376,552 (GRCm39) I139V probably benign Het
B4galt5 A G 2: 167,143,296 (GRCm39) V376A probably damaging Het
Bdkrb1 A G 12: 105,571,379 (GRCm39) N315S probably damaging Het
Brap A T 5: 121,820,909 (GRCm39) I429L probably benign Het
Capn2 A G 1: 182,306,111 (GRCm39) probably null Het
Car10 A G 11: 93,487,948 (GRCm39) Y215C probably damaging Het
Ccdc102a T C 8: 95,634,495 (GRCm39) T365A probably damaging Het
Cdc42ep1 A G 15: 78,731,696 (GRCm39) H47R probably damaging Het
Celsr3 G A 9: 108,722,282 (GRCm39) S2734N probably damaging Het
Cers5 A C 15: 99,638,823 (GRCm39) probably null Het
Cfap43 T C 19: 47,886,462 (GRCm39) E51G probably damaging Het
Cftr T A 6: 18,214,155 (GRCm39) D110E probably damaging Het
Cimap2 T A 4: 106,473,112 (GRCm39) H57L probably benign Het
Cntnap5a A G 1: 116,499,277 (GRCm39) K1176E probably damaging Het
Dlx6 A T 6: 6,867,277 (GRCm39) R293S probably damaging Het
Dnah2 A T 11: 69,411,563 (GRCm39) F353Y possibly damaging Het
Dnajc13 A T 9: 104,051,562 (GRCm39) I1765N probably damaging Het
Ercc6 G T 14: 32,284,526 (GRCm39) R763L probably damaging Het
Furin T C 7: 80,045,195 (GRCm39) N243S probably damaging Het
Hace1 A G 10: 45,465,588 (GRCm39) E48G probably damaging Het
Kcnv1 G A 15: 44,972,743 (GRCm39) T380I probably damaging Het
Klk4 T A 7: 43,533,010 (GRCm39) I32N probably damaging Het
Lingo2 T C 4: 35,709,425 (GRCm39) E185G probably damaging Het
Lrba T A 3: 86,526,858 (GRCm39) W2239R probably damaging Het
Mical2 T A 7: 111,980,975 (GRCm39) D316E probably benign Het
Mlh1 G T 9: 111,064,989 (GRCm39) N555K probably damaging Het
Mroh2b G A 15: 4,950,839 (GRCm39) W579* probably null Het
Mycs G A X: 5,380,858 (GRCm39) P74L probably damaging Het
Or5p62 A T 7: 107,771,207 (GRCm39) L248H probably damaging Het
Or6c1 T C 10: 129,518,509 (GRCm39) Y33C probably damaging Het
Pak2 T C 16: 31,846,590 (GRCm39) I365V possibly damaging Het
Pcdhga11 C A 18: 37,890,078 (GRCm39) S362* probably null Het
Phc2 C T 4: 128,603,401 (GRCm39) T177M probably damaging Het
Phldb1 A T 9: 44,626,669 (GRCm39) L592Q probably damaging Het
Pigr A G 1: 130,769,423 (GRCm39) Y78C probably damaging Het
Pnkp T A 7: 44,507,960 (GRCm39) Y94* probably null Het
Polr2b T C 5: 77,473,614 (GRCm39) V310A possibly damaging Het
Pramel21 A G 4: 143,342,570 (GRCm39) I226V possibly damaging Het
Prl7d1 T A 13: 27,894,054 (GRCm39) I171L probably benign Het
Rpusd4 A G 9: 35,184,017 (GRCm39) Y224C probably damaging Het
Scara5 C A 14: 65,997,057 (GRCm39) R390S possibly damaging Het
Scin C T 12: 40,129,804 (GRCm39) V330I probably benign Het
Sdr42e1 T A 8: 118,390,007 (GRCm39) R211S probably benign Het
Slc36a3 C A 11: 55,020,495 (GRCm39) A292S probably benign Het
Spata31d1a T C 13: 59,848,924 (GRCm39) D1068G probably benign Het
Srd5a1 T A 13: 69,759,338 (GRCm39) D10V probably damaging Het
Sspo G T 6: 48,469,823 (GRCm39) C4507F probably damaging Het
Tmem94 G A 11: 115,688,797 (GRCm39) E1335K probably damaging Het
Tnfrsf13b C T 11: 61,031,742 (GRCm39) Q28* probably null Het
Tspan3 A T 9: 56,054,438 (GRCm39) F88I probably benign Het
Ttn T C 2: 76,592,519 (GRCm39) K20871R probably benign Het
Ube2j2 C A 4: 156,041,795 (GRCm39) Y263* probably null Het
Vcan T C 13: 89,839,977 (GRCm39) T1856A probably benign Het
Vrk3 T C 7: 44,413,585 (GRCm39) L218P probably damaging Het
Zfp236 G T 18: 82,657,461 (GRCm39) H761N probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zfp827 T A 8: 79,844,887 (GRCm39) S686T possibly damaging Het
Other mutations in Pdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Pdk4 APN 6 5,491,869 (GRCm39) missense probably benign 0.16
IGL01524:Pdk4 APN 6 5,491,979 (GRCm39) missense probably damaging 1.00
IGL01814:Pdk4 APN 6 5,491,828 (GRCm39) critical splice donor site probably null
IGL02136:Pdk4 APN 6 5,486,715 (GRCm39) missense probably damaging 1.00
IGL02630:Pdk4 APN 6 5,491,671 (GRCm39) missense possibly damaging 0.63
IGL02689:Pdk4 APN 6 5,487,408 (GRCm39) missense probably benign 0.44
R0277:Pdk4 UTSW 6 5,491,620 (GRCm39) missense probably damaging 1.00
R0335:Pdk4 UTSW 6 5,491,138 (GRCm39) missense probably benign 0.00
R0990:Pdk4 UTSW 6 5,485,577 (GRCm39) missense probably benign 0.39
R1792:Pdk4 UTSW 6 5,489,166 (GRCm39) missense probably damaging 1.00
R2043:Pdk4 UTSW 6 5,485,502 (GRCm39) missense probably benign 0.05
R2091:Pdk4 UTSW 6 5,494,857 (GRCm39) intron probably benign
R4074:Pdk4 UTSW 6 5,491,865 (GRCm39) missense probably benign 0.13
R4916:Pdk4 UTSW 6 5,489,157 (GRCm39) missense possibly damaging 0.79
R5414:Pdk4 UTSW 6 5,485,499 (GRCm39) missense probably benign
R5867:Pdk4 UTSW 6 5,487,452 (GRCm39) missense probably benign
R6772:Pdk4 UTSW 6 5,487,141 (GRCm39) missense probably benign
R7146:Pdk4 UTSW 6 5,491,068 (GRCm39) critical splice donor site probably null
R7193:Pdk4 UTSW 6 5,487,089 (GRCm39) missense probably benign
R7774:Pdk4 UTSW 6 5,492,757 (GRCm39) missense possibly damaging 0.50
R7873:Pdk4 UTSW 6 5,487,086 (GRCm39) missense probably benign 0.00
R8782:Pdk4 UTSW 6 5,494,962 (GRCm39) missense possibly damaging 0.95
R9483:Pdk4 UTSW 6 5,486,716 (GRCm39) missense probably benign 0.00
R9501:Pdk4 UTSW 6 5,491,084 (GRCm39) missense probably damaging 0.99
R9596:Pdk4 UTSW 6 5,491,842 (GRCm39) missense probably benign
Z1176:Pdk4 UTSW 6 5,487,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGATACCTCCTCCTAGTCAGAG -3'
(R):5'- ACATGTGCCCTGTGACTTTG -3'

Sequencing Primer
(F):5'- CTCCTAGTCAGAGTTCTTAGGATC -3'
(R):5'- GCCCTGTGACTTTGAAGAGAG -3'
Posted On 2020-01-23