Incidental Mutation 'IGL00786:Pdk2'
ID13680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk2
Ensembl Gene ENSMUSG00000038967
Gene Namepyruvate dehydrogenase kinase, isoenzyme 2
Synonyms
Accession Numbers

Genbank: NM_133667

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00786
Quality Score
Status
Chromosome11
Chromosomal Location95026258-95041354 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95031935 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 140 (T140S)
Ref Sequence ENSEMBL: ENSMUSP00000041447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431]
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: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Pdk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 splice site 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
R6328:Pdk2 UTSW 11 95039402 missense possibly damaging 0.72
R6675:Pdk2 UTSW 11 95028742 missense probably benign 0.00
R7658:Pdk2 UTSW 11 95028965 missense probably damaging 1.00
R8436:Pdk2 UTSW 11 95039433 missense probably damaging 1.00
Z1176:Pdk2 UTSW 11 95027918 missense probably damaging 0.97
Posted On2012-12-06