Incidental Mutation 'R4074:Pdk4'
ID 316456
Institutional Source Beutler Lab
Gene Symbol Pdk4
Ensembl Gene ENSMUSG00000019577
Gene Name pyruvate dehydrogenase kinase, isoenzyme 4
Synonyms
MMRRC Submission 040855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4074 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 5483351-5496309 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5491865 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 69 (N69S)
Ref Sequence ENSEMBL: ENSMUSP00000145377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019721] [ENSMUST00000203347]
AlphaFold O70571
Predicted Effect probably benign
Transcript: ENSMUST00000019721
AA Change: N165S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: N165S

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 noncoding transcript
Transcript: ENSMUST00000134068
Predicted Effect probably benign
Transcript: ENSMUST00000203347
AA Change: N69S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577
AA Change: N69S

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 1 99 2.3e-25 PFAM
Meta Mutation Damage Score 0.0876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (63/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T C 2: 19,480,590 E422G probably damaging Het
5830473C10Rik T A 5: 90,592,868 probably null Het
8430408G22Rik A G 6: 116,652,068 N124S possibly damaging Het
Ace3 A G 11: 105,997,214 Y287C probably damaging Het
Arfgap3 C T 15: 83,303,129 A510T probably damaging Het
Atg12 A G 18: 46,737,424 F92L probably benign Het
Axl A G 7: 25,763,911 probably benign Het
Chgb C A 2: 132,793,927 D596E possibly damaging Het
Cmtr2 T A 8: 110,221,217 F53Y possibly damaging Het
Cnot10 A G 9: 114,622,947 F254L possibly damaging Het
Crb2 G T 2: 37,786,843 C251F probably damaging Het
Crybg3 A T 16: 59,555,757 probably benign Het
Cytl1 A G 5: 37,735,596 I17V unknown Het
D930020B18Rik A G 10: 121,656,218 probably benign Het
Dnah11 A G 12: 118,045,678 M2083T probably benign Het
Dst A G 1: 34,192,269 E2656G probably benign Het
Dst T C 1: 34,228,461 F4995L probably damaging Het
Egf C T 3: 129,735,969 R264Q probably benign Het
Eps15l1 A G 8: 72,380,284 I482T probably damaging Het
Eqtn A G 4: 94,919,962 I201T possibly damaging Het
Ero1l A T 14: 45,292,436 probably null Het
Etl4 T C 2: 20,809,219 probably benign Het
Fcho1 T C 8: 71,710,369 H672R probably damaging Het
Glt6d1 T C 2: 25,794,127 D289G probably damaging Het
Gm16427 A T 5: 93,485,198 M50K probably damaging Het
Gm5134 T A 10: 76,008,531 W574R probably damaging Het
Gm5346 A T 8: 43,626,350 F279Y probably damaging Het
Gm5414 T C 15: 101,625,553 N332D probably benign Het
Gnb3 T A 6: 124,836,979 E215D probably benign Het
Ighv1-30 C T 12: 114,817,401 noncoding transcript Het
Ighv1-4 A G 12: 114,487,527 S15P possibly damaging Het
Igkv1-133 T G 6: 67,725,521 Y74* probably null Het
Il17f G A 1: 20,777,763 probably benign Het
Itpr2 C T 6: 146,373,244 probably null Het
Krtap31-1 T C 11: 99,908,232 I87T possibly damaging Het
Lilra6 A T 7: 3,914,890 F85Y probably benign Het
Lrig3 C T 10: 126,013,408 T999I probably benign Het
Myh7b T C 2: 155,618,758 I277T probably damaging Het
Myo3b T C 2: 70,289,464 F984S probably damaging Het
Naip5 G A 13: 100,246,064 R46W probably damaging Het
Nup205 T A 6: 35,192,040 probably null Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Pde11a C T 2: 76,337,898 R237H probably damaging Het
Pot1a T C 6: 25,752,357 probably null Het
Psg23 A T 7: 18,607,118 S404T possibly damaging Het
Rev1 T G 1: 38,054,238 K1075T possibly damaging Het
Rrbp1 T G 2: 143,963,110 Q1045P probably benign Het
Scg2 A C 1: 79,436,857 F50V probably damaging Het
Sel1l3 A G 5: 53,154,287 Y619H probably damaging Het
Slco1a5 A T 6: 142,268,224 I57K possibly damaging Het
Srp72 C A 5: 76,998,251 T633K probably benign Het
Swt1 A G 1: 151,394,769 V565A probably benign Het
Tesk1 A G 4: 43,443,606 I58V possibly damaging Het
Tm2d3 T A 7: 65,697,750 L49* probably null Het
Tmprss11e T C 5: 86,715,643 T188A possibly damaging Het
Tnxb A G 17: 34,671,871 N396S probably benign Het
Tuba8 T A 6: 121,222,797 S147T probably damaging Het
Usp8 A G 2: 126,752,370 D822G probably damaging Het
Vmn2r13 T A 5: 109,156,700 I622F probably damaging Het
Vmn2r24 A T 6: 123,787,415 H417L possibly damaging Het
Zfp608 A T 18: 54,898,108 V920E probably damaging Het
Zmym2 T C 14: 56,903,004 L100P probably damaging Het
Other mutations in Pdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Pdk4 APN 6 5491869 missense probably benign 0.16
IGL01524:Pdk4 APN 6 5491979 missense probably damaging 1.00
IGL01814:Pdk4 APN 6 5491828 critical splice donor site probably null
IGL02136:Pdk4 APN 6 5486715 missense probably damaging 1.00
IGL02630:Pdk4 APN 6 5491671 missense possibly damaging 0.63
IGL02689:Pdk4 APN 6 5487408 missense probably benign 0.44
R0277:Pdk4 UTSW 6 5491620 missense probably damaging 1.00
R0335:Pdk4 UTSW 6 5491138 missense probably benign 0.00
R0990:Pdk4 UTSW 6 5485577 missense probably benign 0.39
R1792:Pdk4 UTSW 6 5489166 missense probably damaging 1.00
R2043:Pdk4 UTSW 6 5485502 missense probably benign 0.05
R2091:Pdk4 UTSW 6 5494857 intron probably benign
R4916:Pdk4 UTSW 6 5489157 missense possibly damaging 0.79
R5414:Pdk4 UTSW 6 5485499 missense probably benign
R5867:Pdk4 UTSW 6 5487452 missense probably benign
R6772:Pdk4 UTSW 6 5487141 missense probably benign
R7146:Pdk4 UTSW 6 5491068 critical splice donor site probably null
R7193:Pdk4 UTSW 6 5487089 missense probably benign
R7774:Pdk4 UTSW 6 5492757 missense possibly damaging 0.50
R7873:Pdk4 UTSW 6 5487086 missense probably benign 0.00
R7995:Pdk4 UTSW 6 5487093 missense probably benign 0.42
R8782:Pdk4 UTSW 6 5494962 missense possibly damaging 0.95
R9483:Pdk4 UTSW 6 5486716 missense probably benign 0.00
R9501:Pdk4 UTSW 6 5491084 missense probably damaging 0.99
R9596:Pdk4 UTSW 6 5491842 missense probably benign
Z1176:Pdk4 UTSW 6 5487170 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAATGTGGCTTGGGTTTCCC -3'
(R):5'- CACTAACTATGAATGTCTGGCTTAGG -3'

Sequencing Primer
(F):5'- CCCGTCTTTGAGTCACTGAATATGAG -3'
(R):5'- GTTTGTAGACACGCTGGTCAAAG -3'
Posted On 2015-05-15