Incidental Mutation 'IGL00786:Pdk2'
ID 13680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk2
Ensembl Gene ENSMUSG00000038967
Gene Name pyruvate dehydrogenase kinase, isoenzyme 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00786
Quality Score
Status
Chromosome 11
Chromosomal Location 94917084-94932180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94922761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 140 (T140S)
Ref Sequence ENSEMBL: ENSMUSP00000041447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431]
AlphaFold Q9JK42
Predicted Effect probably benign
Transcript: ENSMUST00000038431
AA Change: T140S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: T140S

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 30 192 3.8e-52 PFAM
HATPase_c 240 364 9.32e-14 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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,265,851 (GRCm39) N242S probably benign Het
Akap9 C A 5: 4,120,522 (GRCm39) A3646E probably damaging Het
Akt1 C A 12: 112,624,105 (GRCm39) G233V probably damaging Het
B3gat3 A G 19: 8,904,149 (GRCm39) E320G probably benign Het
Bltp3a T A 17: 28,098,266 (GRCm39) I136N probably damaging Het
Bpifa5 G A 2: 154,009,172 (GRCm39) C238Y probably damaging Het
Camkmt T C 17: 85,403,919 (GRCm39) V47A probably damaging Het
Ccnl2 C T 4: 155,905,337 (GRCm39) R284W probably damaging Het
Chl1 G T 6: 103,652,106 (GRCm39) V341F probably damaging Het
Cst3 A T 2: 148,714,797 (GRCm39) C93* probably null Het
Ctsh T C 9: 89,946,291 (GRCm39) V119A probably damaging Het
Dmap1 C T 4: 117,533,593 (GRCm39) R225Q possibly damaging Het
Ehbp1 A G 11: 22,050,460 (GRCm39) S479P possibly damaging Het
Eml2 A G 7: 18,936,507 (GRCm39) Y528C probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
G6pc3 A G 11: 102,083,931 (GRCm39) M186V probably benign Het
Gpr37 A G 6: 25,669,317 (GRCm39) V509A possibly damaging Het
Heatr5b G T 17: 79,132,063 (GRCm39) H347N possibly damaging Het
Idh1 A G 1: 65,205,402 (GRCm39) S188P probably damaging Het
Mphosph8 T C 14: 56,910,001 (GRCm39) V118A probably benign Het
Mthfsd C T 8: 121,831,207 (GRCm39) R91Q probably damaging Het
Otor G A 2: 142,921,846 (GRCm39) V86I probably damaging Het
Pnliprp2 A G 19: 58,748,929 (GRCm39) N78S probably benign Het
Rimbp3 C T 16: 17,029,552 (GRCm39) T992M probably damaging Het
Sdad1 A T 5: 92,451,632 (GRCm39) probably null Het
Sidt2 A G 9: 45,861,101 (GRCm39) S71P possibly damaging Het
Slc44a2 T A 9: 21,257,231 (GRCm39) V390E probably damaging Het
Tmem168 T C 6: 13,602,674 (GRCm39) I231V probably benign Het
Vim T C 2: 13,583,321 (GRCm39) probably null Het
Other mutations in Pdk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06