|Institutional Source||Beutler Lab|
|Gene Name||pyruvate dehydrogenase kinase, isoenzyme 3|
|Is this an essential gene?||Probably non essential (E-score: 0.075)|
|Stock #||R4551 (G1)|
|Chromosomal Location||93764607-93832201 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 93782240 bp|
|Amino Acid Change||Methionine to Lysine at position 253 (M253K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036604 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045748]|
|Predicted Effect||probably damaging
AA Change: M253K
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: M253K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9613|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdk3||
(F):5'- ACTCAAGAACTGCCAGGTCC -3'
(R):5'- GATAGCCAAGCTCAGTGGAG -3'
(F):5'- AAGAACTGCCAGGTCCCTTGC -3'
(R):5'- ATAAAAGTAATCTTGTGCTTGTTTCG -3'