Incidental Mutation 'R2231:Pdk3'
ID 240072
Institutional Source Beutler Lab
Gene Symbol Pdk3
Ensembl Gene ENSMUSG00000035232
Gene Name pyruvate dehydrogenase kinase, isoenzyme 3
Synonyms 2610001M10Rik
MMRRC Submission 040232-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R2231 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 92808213-92875807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 92857604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 59 (N59K)
Ref Sequence ENSEMBL: ENSMUSP00000036604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045748]
AlphaFold Q922H2
Predicted Effect probably damaging
Transcript: ENSMUST00000045748
AA Change: N59K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036604
Gene: ENSMUSG00000035232
AA Change: N59K

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 26 188 3.8e-50 PFAM
HATPase_c 236 362 3.32e-10 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
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
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,739,440 (GRCm39) R336W probably damaging Het
Alkbh6 G A 7: 30,012,015 (GRCm39) probably null Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Arsa T C 15: 89,359,925 (GRCm39) M1V probably null Het
Cblb T A 16: 52,014,635 (GRCm39) S895T probably benign Het
Cdk8 A T 5: 146,168,414 (GRCm39) probably benign Het
Coch G A 12: 51,649,648 (GRCm39) V320I probably benign Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Eif2b5 T C 16: 20,323,520 (GRCm39) Y424H probably benign Het
Enoph1 C T 5: 100,188,136 (GRCm39) T20I probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Nup153 A G 13: 46,863,103 (GRCm39) probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or5b12b A G 19: 12,861,313 (GRCm39) I23V probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plekhd1 T C 12: 80,768,725 (GRCm39) F403L possibly damaging Het
Pou5f1 A G 17: 35,820,959 (GRCm39) T134A probably benign Het
Ppp3r1 G A 11: 17,143,115 (GRCm39) G68R probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sacs A G 14: 61,443,378 (GRCm39) probably null Het
Sbno1 A T 5: 124,543,767 (GRCm39) D257E probably damaging Het
Scn10a T C 9: 119,462,916 (GRCm39) E1040G possibly damaging Het
Sgce T C 6: 4,730,066 (GRCm39) K53E probably benign Het
Slc6a11 A G 6: 114,171,590 (GRCm39) T254A probably damaging Het
Spag1 A G 15: 36,191,313 (GRCm39) Y180C probably benign Het
Ssna1 G T 2: 25,162,019 (GRCm39) N58K possibly damaging Het
Tbx3 C A 5: 119,815,589 (GRCm39) N296K probably damaging Het
Tcerg1 A G 18: 42,657,309 (GRCm39) T264A unknown Het
Trdmt1 A T 2: 13,530,436 (GRCm39) F82I probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Usp33 C T 3: 152,079,023 (GRCm39) A425V probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F possibly damaging Het
Zw10 C T 9: 48,975,421 (GRCm39) T282M possibly damaging Het
Other mutations in Pdk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03058:Pdk3 APN X 92,845,892 (GRCm39) missense probably benign 0.38
IGL03296:Pdk3 APN X 92,875,503 (GRCm39) missense probably damaging 1.00
R2232:Pdk3 UTSW X 92,857,604 (GRCm39) missense probably damaging 1.00
R4551:Pdk3 UTSW X 92,825,846 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAAGCCTAGCTCTCCTGAAAG -3'
(R):5'- GCTTTCAAAGTTGCCTCTTGG -3'

Sequencing Primer
(F):5'- TCCTGAAAGCCTCATTCCCAG -3'
(R):5'- AGTTGCCTCTTGGAATAAATGTTC -3'
Posted On 2014-10-15