Incidental Mutation 'R6328:Pdk2'
ID510819
Institutional Source Beutler Lab
Gene Symbol Pdk2
Ensembl Gene ENSMUSG00000038967
Gene Namepyruvate dehydrogenase kinase, isoenzyme 2
Synonyms
MMRRC Submission
Accession Numbers

Genbank: NM_133667

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6328 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location95026258-95041354 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 95039402 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 69 (N69K)
Ref Sequence ENSEMBL: ENSMUSP00000041447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431]
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: 8,602,436 probably benign Het
Abcb10 G A 8: 123,962,017 R507W probably damaging Het
Actg1 T C 11: 120,347,760 D80G possibly damaging Het
Actr5 A G 2: 158,635,344 D405G possibly damaging Het
Ahnak C T 19: 9,007,148 T1932I probably benign Het
Ankk1 T A 9: 49,416,071 T603S possibly damaging Het
Atp13a3 A T 16: 30,336,235 F964I probably damaging Het
Atp6v1g3 A G 1: 138,287,832 T77A probably benign Het
Bccip A G 7: 133,717,774 H198R probably damaging Het
Bsx A T 9: 40,874,223 R16W probably damaging Het
Ccdc88b C T 19: 6,849,038 R1103Q probably damaging Het
Cd59a A C 2: 104,110,758 Y27S probably damaging Het
Cdk20 A G 13: 64,436,599 H162R probably damaging Het
Col6a2 C T 10: 76,614,378 E240K possibly damaging Het
Ddr2 A G 1: 169,987,065 V603A possibly damaging Het
Dgkz A G 2: 91,942,635 V359A probably benign Het
Dis3l2 T A 1: 86,854,431 S223T probably benign Het
Dpysl4 A G 7: 139,099,818 S535G probably benign Het
Dsp A T 13: 38,197,006 K1977* probably null Het
Dync2h1 A T 9: 7,165,717 S515T probably benign Het
Epg5 A G 18: 78,028,964 E2397G possibly damaging Het
Fam83d G A 2: 158,785,176 G262S probably damaging Het
Frmd4a A T 2: 4,590,698 T477S probably damaging Het
Gbp3 A G 3: 142,569,058 E382G probably benign Het
Gltp A T 5: 114,670,511 C157S possibly damaging Het
Grb10 A G 11: 11,937,905 S378P probably damaging Het
Gulo G T 14: 66,002,631 T126K probably damaging Het
H2-M10.6 T A 17: 36,813,944 M251K probably damaging Het
Hecw1 T C 13: 14,247,620 D967G possibly damaging Het
Htr3b A T 9: 48,947,633 D68E probably damaging Het
Igkv5-39 G T 6: 69,900,505 S89* probably null Het
Kctd4 C A 14: 75,962,597 probably benign Het
Lmna T C 3: 88,486,506 Q255R probably damaging Het
Lsmem1 A G 12: 40,180,657 I82T possibly damaging Het
Lyg2 T A 1: 37,911,113 M45L probably benign Het
Myo5b G A 18: 74,616,993 A176T probably damaging Het
Nudt5 A T 2: 5,864,437 K158I possibly damaging Het
Nufip1 C T 14: 76,111,054 P41L possibly damaging Het
Olfr1307 A T 2: 111,945,394 W21R probably null Het
Olfr618 A T 7: 103,597,866 E183D probably damaging Het
Pcp2 T C 8: 3,624,887 D22G probably damaging Het
Pdlim7 G T 13: 55,508,092 probably benign Het
Ptprc C A 1: 138,113,678 E148* probably null Het
Rassf5 A T 1: 131,180,668 V225E probably damaging Het
Rbm6 A T 9: 107,787,259 M725K probably benign Het
Scn1a T A 2: 66,273,316 I1867F probably damaging Het
Sdk2 T A 11: 113,793,755 Q1960L probably damaging Het
Setx A G 2: 29,174,462 probably benign Het
Sgo2b T A 8: 63,928,311 R496* probably null Het
Slco1a1 C T 6: 141,932,450 V222I probably damaging Het
Sntg2 A C 12: 30,258,014 L224R probably damaging Het
Syt16 C A 12: 74,266,693 C464* probably null Het
Tapbpl T A 6: 125,224,918 S420C probably benign Het
Tax1bp1 A G 6: 52,746,709 E528G probably benign Het
Tmem168 T C 6: 13,602,711 T219A probably benign Het
Zfp180 T C 7: 24,105,556 F467L probably damaging Het
Other mutations in Pdk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Pdk2 APN 11 95031935 missense probably benign
IGL01489:Pdk2 APN 11 95032022 critical splice acceptor site probably null
IGL01538:Pdk2 APN 11 95027285 missense probably damaging 1.00
IGL02057:Pdk2 APN 11 95028498 missense probably benign 0.00
IGL02439:Pdk2 APN 11 95039497 unclassified probably benign
IGL02539:Pdk2 APN 11 95032495 missense probably benign 0.05
IGL02551:Pdk2 APN 11 95028586 missense probably benign 0.01
B5639:Pdk2 UTSW 11 95032498 missense possibly damaging 0.57
R0063:Pdk2 UTSW 11 95032480 missense probably benign
R0063:Pdk2 UTSW 11 95032480 missense probably benign
R0864:Pdk2 UTSW 11 95027933 missense probably damaging 1.00
R1435:Pdk2 UTSW 11 95031895 missense probably damaging 1.00
R1704:Pdk2 UTSW 11 95028550 missense possibly damaging 0.75
R2114:Pdk2 UTSW 11 95027262 missense probably damaging 1.00
R2566:Pdk2 UTSW 11 95027202 unclassified probably null
R3613:Pdk2 UTSW 11 95027246 missense probably benign 0.39
R4259:Pdk2 UTSW 11 95041144 missense probably benign 0.17
R5051:Pdk2 UTSW 11 95028772 missense probably benign 0.29
R5055:Pdk2 UTSW 11 95039416 missense probably benign 0.18
R5457:Pdk2 UTSW 11 95028582 missense probably damaging 0.98
R5512:Pdk2 UTSW 11 95039466 missense probably damaging 1.00
R5570:Pdk2 UTSW 11 95030000 missense probably damaging 0.98
R5687:Pdk2 UTSW 11 95029025 unclassified probably benign
R6675:Pdk2 UTSW 11 95028742 missense probably benign 0.00
R7658:Pdk2 UTSW 11 95028965 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGACTGAACTTGACCTTTGACC -3'
(R):5'- ATGGTCATTTCAGCCTGCCC -3'

Sequencing Primer
(F):5'- GGAGTCCAAGAAATCCTGGCTAAC -3'
(R):5'- TGCCCAGTTTCCACATGGG -3'
Posted On2018-04-02