Incidental Mutation 'R5457:Pdk2'
ID 432835
Institutional Source Beutler Lab
Gene Symbol Pdk2
Ensembl Gene ENSMUSG00000038967
Gene Name pyruvate dehydrogenase kinase, isoenzyme 2
Synonyms
MMRRC Submission 043020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5457 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94917084-94932180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94919408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 289 (S289N)
Ref Sequence ENSEMBL: ENSMUSP00000041447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431] [ENSMUST00000055947]
AlphaFold Q9JK42
Predicted Effect probably damaging
Transcript: ENSMUST00000038431
AA Change: S289N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: S289N

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 30 192 3.8e-52 PFAM
HATPase_c 240 364 9.32e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055947
SMART Domains Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181

DomainStartEndE-ValueType
low complexity region 42 57 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 244 260 N/A INTRINSIC
low complexity region 276 289 N/A INTRINSIC
SAM 323 389 7.96e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155857
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C A 8: 87,236,473 (GRCm39) V1114L probably benign Het
Actr5 G A 2: 158,477,918 (GRCm39) probably null Het
Adcy7 T C 8: 89,037,649 (GRCm39) L239P probably damaging Het
Afg3l1 T A 8: 124,216,707 (GRCm39) F315L possibly damaging Het
Agps A G 2: 75,684,596 (GRCm39) Y188C probably benign Het
Akt1 T C 12: 112,623,525 (GRCm39) T312A probably damaging Het
Ang2 T C 14: 51,433,292 (GRCm39) Y30C probably damaging Het
Angpt1 G A 15: 42,386,916 (GRCm39) T146I probably damaging Het
Atg16l1 T C 1: 87,702,813 (GRCm39) S288P probably damaging Het
Atp1b2 C T 11: 69,493,558 (GRCm39) G4R probably damaging Het
Best3 T C 10: 116,840,416 (GRCm39) F282S probably damaging Het
Cdkn2b A G 4: 89,225,391 (GRCm39) L98P probably damaging Het
Cenps A G 4: 149,216,094 (GRCm39) probably null Het
Clec16a G T 16: 10,363,396 (GRCm39) probably null Het
Cxcl13 A T 5: 96,104,830 (GRCm39) M1L unknown Het
Dcun1d4 A T 5: 73,688,908 (GRCm39) E149D probably damaging Het
Dlst G A 12: 85,168,914 (GRCm39) probably null Het
Dock10 C A 1: 80,501,781 (GRCm39) C1803F probably damaging Het
Dpp10 T A 1: 123,339,539 (GRCm39) K329N possibly damaging Het
Drosha T G 15: 12,926,115 (GRCm39) Y1235D probably benign Het
Eif2s3y G A Y: 1,016,057 (GRCm39) G213D probably damaging Homo
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
Fam171a2 T C 11: 102,328,362 (GRCm39) D799G possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fcrlb T C 1: 170,739,726 (GRCm39) T59A probably damaging Het
Fgd4 T C 16: 16,279,873 (GRCm39) R395G probably benign Het
Gm14496 A T 2: 181,639,401 (GRCm39) D497V probably damaging Het
Gpt2 A C 8: 86,238,967 (GRCm39) N267H possibly damaging Het
Grb14 A T 2: 64,747,442 (GRCm39) C43S probably damaging Het
Hjurp T TN 1: 88,194,247 (GRCm39) probably null Het
Igkv8-16 A G 6: 70,363,689 (GRCm39) V111A possibly damaging Het
Klra2 T A 6: 131,198,852 (GRCm39) S230C possibly damaging Het
Lamb3 G A 1: 193,008,302 (GRCm39) R245H probably damaging Het
Lamc3 A G 2: 31,821,997 (GRCm39) E1315G probably benign Het
Lpin2 A G 17: 71,550,367 (GRCm39) T672A probably damaging Het
Mcoln3 T A 3: 145,833,877 (GRCm39) I139N probably benign Het
Mcpt8 C T 14: 56,319,793 (GRCm39) C219Y probably benign Het
Mtcl3 A C 10: 29,072,720 (GRCm39) I671L probably benign Het
Mug2 G T 6: 122,026,688 (GRCm39) G541* probably null Het
Myo7b G T 18: 32,104,503 (GRCm39) probably null Het
Or10j2 C T 1: 173,098,141 (GRCm39) S133L probably benign Het
Or10j7 A G 1: 173,011,180 (GRCm39) S274P probably damaging Het
Or5ac22 T C 16: 59,135,213 (GRCm39) I186V probably benign Het
Or5k8 A T 16: 58,644,796 (GRCm39) I92N probably damaging Het
Or7e176 A T 9: 20,171,574 (GRCm39) Y146F probably damaging Het
Pclo C T 5: 14,726,157 (GRCm39) probably benign Het
Pex19 G T 1: 171,958,245 (GRCm39) G75W probably damaging Het
Psma3 T G 12: 71,031,339 (GRCm39) S26A probably benign Het
Pth1r A T 9: 110,555,522 (GRCm39) I326N possibly damaging Het
Sbf2 T C 7: 109,912,037 (GRCm39) T1670A probably benign Het
Scn10a A G 9: 119,523,193 (GRCm39) Y67H probably damaging Het
Sec16a A T 2: 26,330,280 (GRCm39) D578E probably benign Het
Spta1 C T 1: 174,044,759 (GRCm39) A1465V probably damaging Het
Taar9 A G 10: 23,985,003 (GRCm39) F144L probably damaging Het
Tal1 T C 4: 114,925,777 (GRCm39) V282A probably benign Het
Tbrg4 C T 11: 6,570,947 (GRCm39) R175Q probably damaging Het
Tdp1 C T 12: 99,861,005 (GRCm39) Q215* probably null Het
Thsd4 A T 9: 59,887,060 (GRCm39) W921R probably damaging Het
Trrap A G 5: 144,786,787 (GRCm39) E3462G probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn T C 2: 76,541,265 (GRCm39) E25580G probably damaging Het
Ttn A T 2: 76,776,299 (GRCm39) I1581N possibly damaging Het
Vmn2r50 T C 7: 9,781,873 (GRCm39) T291A probably damaging Het
Zkscan14 T C 5: 145,138,169 (GRCm39) D106G probably benign 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
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
R6328:Pdk2 UTSW 11 94,930,228 (GRCm39) missense possibly damaging 0.72
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'- ACTGTTGTCACACCACACAG -3'
(R):5'- TCCCTTCCCAGAATGCCATG -3'

Sequencing Primer
(F):5'- GTTGTCACACCACACAGCCATG -3'
(R):5'- TGGAAAGCCACGAGTCCAGC -3'
Posted On 2016-10-06