Incidental Mutation 'R3707:Pdhb'
ID 258760
Institutional Source Beutler Lab
Gene Symbol Pdhb
Ensembl Gene ENSMUSG00000021748
Gene Name pyruvate dehydrogenase (lipoamide) beta
Synonyms 2610103L06Rik
MMRRC Submission 040700-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # R3707 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 14296748-14303777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8170409 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 114 (N114S)
Ref Sequence ENSEMBL: ENSMUSP00000022268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022268]
AlphaFold Q9D051
Predicted Effect probably damaging
Transcript: ENSMUST00000022268
AA Change: N114S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022268
Gene: ENSMUSG00000021748
AA Change: N114S

DomainStartEndE-ValueType
Transket_pyr 33 208 3.62e-58 SMART
Pfam:Transketolase_C 226 349 2.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225747
Meta Mutation Damage Score 0.7971 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 97% (37/38)
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 carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Avpr1a T A 10: 122,285,014 (GRCm39) F102Y probably damaging Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Chrng C T 1: 87,138,333 (GRCm39) Q375* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Dennd6a T C 14: 26,313,546 (GRCm39) probably benign Het
Eef2k C A 7: 120,483,935 (GRCm39) L224I probably damaging Het
Gm10033 G C 8: 69,825,068 (GRCm39) noncoding transcript Het
Gm11545 T C 11: 94,648,385 (GRCm39) noncoding transcript Het
Herpud1 T A 8: 95,118,867 (GRCm39) V207D probably damaging Het
Hmbox1 T C 14: 65,134,285 (GRCm39) Y105C probably benign Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lgr4 T C 2: 109,801,099 (GRCm39) L83P probably damaging Het
Lrch1 C T 14: 75,095,437 (GRCm39) M134I probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mtg1 A T 7: 139,729,717 (GRCm39) K269M probably damaging Het
Nkain3 A T 4: 20,484,920 (GRCm39) F52L possibly damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Or12e10 T C 2: 87,640,520 (GRCm39) C119R probably damaging Het
Or6c8 T A 10: 128,915,254 (GRCm39) I193F probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pimreg G A 11: 71,937,158 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Resf1 C T 6: 149,230,611 (GRCm39) S1219L probably damaging Het
Rif1 T A 2: 51,983,592 (GRCm39) D578E probably damaging Het
Rrbp1 G T 2: 143,795,197 (GRCm39) A1269E probably benign Het
Rufy3 G A 5: 88,790,891 (GRCm39) A531T probably benign Het
Slc22a22 C A 15: 57,114,369 (GRCm39) L319F probably damaging Het
Tapbpl A G 6: 125,201,658 (GRCm39) probably null Het
Tdrd1 T C 19: 56,854,425 (GRCm39) S1124P possibly damaging Het
Top2a T C 11: 98,887,651 (GRCm39) K1286E probably benign Het
Top2b T C 14: 16,388,447 (GRCm38) V188A probably damaging Het
Vmn2r4 A T 3: 64,296,895 (GRCm39) I630N probably damaging Het
Vmn2r53 T C 7: 12,315,981 (GRCm39) T613A possibly damaging Het
Zbtb40 A G 4: 136,726,879 (GRCm39) Y486H probably damaging Het
Zfp715 T C 7: 42,960,553 (GRCm39) T13A probably benign Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging Het
Other mutations in Pdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03018:Pdhb APN 14 8,171,537 (GRCm38) splice site probably benign
PIT1430001:Pdhb UTSW 14 8,170,425 (GRCm38) missense probably damaging 1.00
R0426:Pdhb UTSW 14 8,169,801 (GRCm38) missense probably damaging 1.00
R1019:Pdhb UTSW 14 8,171,442 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GAATTCCAGGGGCTGACC -3'
(R):5'- GAGCTAATCCAAGGAGGTTTCC -3'

Sequencing Primer
(F):5'- GACCACTTTTAAACCTGGGCAGTG -3'
(R):5'- TGTATGTCGGGAGAGTAGAC -3'
Posted On 2015-01-23