Incidental Mutation 'IGL01489:Pdk2'
ID 88807
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 # IGL01489
Quality Score
Status
Chromosome 11
Chromosomal Location 94917084-94932180 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 94922848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431]
AlphaFold Q9JK42
Predicted Effect probably null
Transcript: ENSMUST00000038431
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967

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: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T G 6: 58,662,808 (GRCm39) probably null Het
Dgkb T C 12: 38,177,384 (GRCm39) probably null Het
Dock1 A G 7: 134,601,050 (GRCm39) probably benign Het
Lhcgr T A 17: 89,072,401 (GRCm39) probably benign Het
Lifr A G 15: 7,205,037 (GRCm39) probably benign Het
Other mutations in Pdk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Pdk2 APN 11 94,922,761 (GRCm39) missense probably benign
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 2013-11-18