Incidental Mutation 'R5414:Pdk4'
ID 427628
Institutional Source Beutler Lab
Gene Symbol Pdk4
Ensembl Gene ENSMUSG00000019577
Gene Name pyruvate dehydrogenase kinase, isoenzyme 4
Synonyms
MMRRC Submission 042983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5414 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 5483351-5496278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5485499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 397 (I397V)
Ref Sequence ENSEMBL: ENSMUSP00000019721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019721]
AlphaFold O70571
Predicted Effect probably benign
Transcript: ENSMUST00000019721
AA Change: I397V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: I397V

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
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (55/55)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,205,448 (GRCm39) S278P probably damaging Het
Acan A G 7: 78,750,736 (GRCm39) T1836A probably benign Het
Akr1c18 T A 13: 4,186,734 (GRCm39) D238V probably damaging Het
Akt3 A G 1: 176,877,817 (GRCm39) V317A probably damaging Het
Atp2b2 G A 6: 113,819,102 (GRCm39) P64S probably damaging Het
Atr A G 9: 95,752,757 (GRCm39) N609S probably benign Het
Bcat1 A G 6: 144,961,173 (GRCm39) probably null Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Cd34 A G 1: 194,630,219 (GRCm39) E51G probably benign Het
Celsr3 A G 9: 108,717,241 (GRCm39) E2161G possibly damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Cnih1 T C 14: 47,016,440 (GRCm39) T105A probably benign Het
Coro1c A G 5: 113,986,607 (GRCm39) I279T possibly damaging Het
Ddx11 A G 17: 66,455,763 (GRCm39) T721A probably benign Het
Fbn2 C A 18: 58,226,477 (GRCm39) A766S probably damaging Het
Focad C T 4: 88,328,939 (GRCm39) probably benign Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp2b T C 3: 142,304,852 (GRCm39) L96P probably damaging Het
Gm10192 T C 4: 97,071,346 (GRCm39) S20G probably null Het
Gm10288 T C 3: 146,544,717 (GRCm39) noncoding transcript Het
Gm4181 C T 14: 51,873,047 (GRCm39) probably null Het
Gm6327 T A 16: 12,578,222 (GRCm39) noncoding transcript Het
Hfm1 A G 5: 107,049,942 (GRCm39) I409T probably damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Ifit1bl1 T A 19: 34,571,324 (GRCm39) I378F probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Krt33b T C 11: 99,920,612 (GRCm39) T14A probably benign Het
Lrch3 T A 16: 32,806,335 (GRCm39) probably null Het
Mycbp2 A T 14: 103,543,697 (GRCm39) L226H probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nploc4 A T 11: 120,304,469 (GRCm39) Y251N probably damaging Het
Or4b12 T C 2: 90,096,046 (GRCm39) T243A probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pgm5 A G 19: 24,686,689 (GRCm39) I506T probably damaging Het
Pgs1 T G 11: 117,905,502 (GRCm39) I499S probably damaging Het
Ppp6r3 A G 19: 3,557,330 (GRCm39) S253P probably damaging Het
Prag1 C G 8: 36,606,776 (GRCm39) P839R probably benign Het
Rin3 C T 12: 102,356,116 (GRCm39) Q806* probably null Het
Ros1 T C 10: 52,031,189 (GRCm39) D484G probably damaging Het
Scamp5 A G 9: 57,354,507 (GRCm39) V49A probably benign Het
Sis C A 3: 72,859,826 (GRCm39) V310L probably benign Het
Svep1 T C 4: 58,206,322 (GRCm39) T19A possibly damaging Het
Tcstv2b A C 13: 120,373,872 (GRCm39) D139E probably damaging Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Thra A G 11: 98,651,783 (GRCm39) I102V probably benign Het
Trim30a A C 7: 104,060,348 (GRCm39) V476G probably damaging Het
Vmn2r3 T A 3: 64,166,978 (GRCm39) R718* probably null Het
Washc4 A G 10: 83,391,967 (GRCm39) T218A possibly damaging Het
Xrcc1 A G 7: 24,269,643 (GRCm39) Y401C probably damaging Het
Zfp629 T C 7: 127,210,454 (GRCm39) T452A probably 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
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
R7995:Pdk4 UTSW 6 5,487,093 (GRCm39) missense probably benign 0.42
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'- CAGGTCAAGGTTTGTACTCGTG -3'
(R):5'- CTAGAACACCCTGGGTTTGG -3'

Sequencing Primer
(F):5'- CAAGGTTTGTACTCGTGTTTGTG -3'
(R):5'- AACACCCTGGGTTTGGTACATTTTTC -3'
Posted On 2016-09-01