Incidental Mutation 'R6328:Pdk2'
ID 510819
Institutional Source Beutler Lab
Gene Symbol Pdk2
Ensembl Gene ENSMUSG00000038967
Gene Name pyruvate dehydrogenase kinase, isoenzyme 2
Synonyms
MMRRC Submission 044482-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6328 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94917084-94932180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 94930228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 69 (N69K)
Ref Sequence ENSEMBL: ENSMUSP00000041447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431]
AlphaFold Q9JK42
Predicted Effect possibly damaging
Transcript: ENSMUST00000038431
AA Change: N69K

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: N69K

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 30 192 3.8e-52 PFAM
HATPase_c 240 364 9.32e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155857
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abcb10 G A 8: 124,688,756 (GRCm39) R507W probably damaging Het
Actg1 T C 11: 120,238,586 (GRCm39) D80G possibly damaging Het
Actr5 A G 2: 158,477,264 (GRCm39) D405G possibly damaging Het
Ahnak C T 19: 8,984,512 (GRCm39) T1932I probably benign Het
Ankk1 T A 9: 49,327,371 (GRCm39) T603S possibly damaging Het
Atp13a3 A T 16: 30,155,053 (GRCm39) F964I probably damaging Het
Atp6v1g3 A G 1: 138,215,570 (GRCm39) T77A probably benign Het
Bccip A G 7: 133,319,503 (GRCm39) H198R probably damaging Het
Bsx A T 9: 40,785,519 (GRCm39) R16W probably damaging Het
Ccdc88b C T 19: 6,826,406 (GRCm39) R1103Q probably damaging Het
Cd59a A C 2: 103,941,103 (GRCm39) Y27S probably damaging Het
Cdk20 A G 13: 64,584,413 (GRCm39) H162R probably damaging Het
Col6a2 C T 10: 76,450,212 (GRCm39) E240K possibly damaging Het
Ddr2 A G 1: 169,814,634 (GRCm39) V603A possibly damaging Het
Dgkz A G 2: 91,772,980 (GRCm39) V359A probably benign Het
Dis3l2 T A 1: 86,782,153 (GRCm39) S223T probably benign Het
Dpysl4 A G 7: 138,679,734 (GRCm39) S535G probably benign Het
Dsp A T 13: 38,380,982 (GRCm39) K1977* probably null Het
Dync2h1 A T 9: 7,165,717 (GRCm39) S515T probably benign Het
Epg5 A G 18: 78,072,179 (GRCm39) E2397G possibly damaging Het
Fam83d G A 2: 158,627,096 (GRCm39) G262S probably damaging Het
Frmd4a A T 2: 4,595,509 (GRCm39) T477S probably damaging Het
Gbp3 A G 3: 142,274,819 (GRCm39) E382G probably benign Het
Gltp A T 5: 114,808,572 (GRCm39) C157S possibly damaging Het
Grb10 A G 11: 11,887,905 (GRCm39) S378P probably damaging Het
Gulo G T 14: 66,240,080 (GRCm39) T126K probably damaging Het
H2-M10.6 T A 17: 37,124,836 (GRCm39) M251K probably damaging Het
Hecw1 T C 13: 14,422,205 (GRCm39) D967G possibly damaging Het
Htr3b A T 9: 48,858,933 (GRCm39) D68E probably damaging Het
Igkv5-39 G T 6: 69,877,489 (GRCm39) S89* probably null Het
Kctd4 C A 14: 76,200,037 (GRCm39) probably benign Het
Lmna T C 3: 88,393,813 (GRCm39) Q255R probably damaging Het
Lsmem1 A G 12: 40,230,656 (GRCm39) I82T possibly damaging Het
Lyg2 T A 1: 37,950,194 (GRCm39) M45L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Nudt5 A T 2: 5,869,248 (GRCm39) K158I possibly damaging Het
Nufip1 C T 14: 76,348,494 (GRCm39) P41L possibly damaging Het
Or4f14b A T 2: 111,775,739 (GRCm39) W21R probably null Het
Or52z13 A T 7: 103,247,073 (GRCm39) E183D probably damaging Het
Pcp2 T C 8: 3,674,887 (GRCm39) D22G probably damaging Het
Pdlim7 G T 13: 55,655,905 (GRCm39) probably benign Het
Ptprc C A 1: 138,041,416 (GRCm39) E148* probably null Het
Rassf5 A T 1: 131,108,405 (GRCm39) V225E probably damaging Het
Rbm6 A T 9: 107,664,458 (GRCm39) M725K probably benign Het
Scn1a T A 2: 66,103,660 (GRCm39) I1867F probably damaging Het
Sdk2 T A 11: 113,684,581 (GRCm39) Q1960L probably damaging Het
Setx A G 2: 29,064,474 (GRCm39) probably benign Het
Sgo2b T A 8: 64,381,345 (GRCm39) R496* probably null Het
Slco1a1 C T 6: 141,878,176 (GRCm39) V222I probably damaging Het
Sntg2 A C 12: 30,308,013 (GRCm39) L224R probably damaging Het
Syt16 C A 12: 74,313,467 (GRCm39) C464* probably null Het
Tapbpl T A 6: 125,201,881 (GRCm39) S420C probably benign Het
Tax1bp1 A G 6: 52,723,694 (GRCm39) E528G probably benign Het
Tmem168 T C 6: 13,602,710 (GRCm39) T219A probably benign Het
Zfp180 T C 7: 23,804,981 (GRCm39) F467L probably damaging 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
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
R8436:Pdk2 UTSW 11 94,930,259 (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'- CAGACTGAACTTGACCTTTGACC -3'
(R):5'- ATGGTCATTTCAGCCTGCCC -3'

Sequencing Primer
(F):5'- GGAGTCCAAGAAATCCTGGCTAAC -3'
(R):5'- TGCCCAGTTTCCACATGGG -3'
Posted On 2018-04-02