Incidental Mutation 'R1019:Pdhb'
ID96791
Institutional Source Beutler Lab
Gene Symbol Pdhb
Ensembl Gene ENSMUSG00000021748
Gene Namepyruvate dehydrogenase (lipoamide) beta
Synonyms
MMRRC Submission 039123-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.728) question?
Stock #R1019 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location8165996-8173025 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8171442 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 62 (Q62R)
Ref Sequence ENSEMBL: ENSMUSP00000022268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022268] [ENSMUST00000022268]
Predicted Effect probably benign
Transcript: ENSMUST00000022268
AA Change: Q62R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022268
Gene: ENSMUSG00000021748
AA Change: Q62R

DomainStartEndE-ValueType
Transket_pyr 33 208 3.62e-58 SMART
Pfam:Transketolase_C 226 349 2.4e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022268
AA Change: Q62R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022268
Gene: ENSMUSG00000021748
AA Change: Q62R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G C 8: 120,145,470 E46Q probably damaging Het
9130401M01Rik A G 15: 58,022,427 I353T possibly damaging Het
A830031A19Rik G A 11: 24,049,438 R53C unknown Het
Abcc6 T C 7: 46,014,107 R378G possibly damaging Het
Adam10 A G 9: 70,761,640 N413D probably benign Het
Csmd2 T C 4: 128,522,014 V2712A probably benign Het
Dnhd1 T C 7: 105,709,171 F3289S probably damaging Het
Hectd1 A G 12: 51,748,657 S2330P probably damaging Het
Ift74 C T 4: 94,635,835 A196V probably benign Het
Kifc1 G A 17: 33,884,711 R195C probably benign Het
Lipo2 A T 19: 33,730,857 C252* probably null Het
Mrgpra1 C G 7: 47,335,085 C282S probably benign Het
Nfatc2 A T 2: 168,504,879 L765Q probably damaging Het
Olfr355 A G 2: 36,927,752 F121L probably benign Het
Olfr541 C T 7: 140,704,494 P81L probably damaging Het
Otof C A 5: 30,370,743 V1924L probably damaging Het
Plbd1 A G 6: 136,651,905 V55A probably benign Het
Poteg T A 8: 27,447,824 F3I possibly damaging Het
Rptor A G 11: 119,843,743 D46G probably damaging Het
Slc18a1 C T 8: 69,075,033 probably null Het
Slc37a1 A G 17: 31,315,594 N80S probably benign Het
Slc6a18 T A 13: 73,677,879 R17S probably damaging Het
Spata31d1a A G 13: 59,702,368 S649P probably benign Het
Syngr3 G T 17: 24,687,560 Q94K possibly damaging Het
Tgm2 C A 2: 158,124,154 E527* probably null Het
Tnc T A 4: 63,962,082 T1952S probably damaging Het
Ubqln3 C T 7: 104,141,386 R499Q probably benign Het
Uck1 A G 2: 32,256,193 V230A possibly damaging Het
Unc13d G A 11: 116,068,074 R754C probably benign Het
Zfp708 C T 13: 67,074,098 A73T probably benign Het
Other mutations in Pdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03018:Pdhb APN 14 8171537 splice site probably benign
PIT1430001:Pdhb UTSW 14 8170425 missense probably damaging 1.00
R0426:Pdhb UTSW 14 8169801 missense probably damaging 1.00
R3707:Pdhb UTSW 14 8170409 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTCGATGATCCTCTTGTCACCG -3'
(R):5'- CTCCTCAGATTCTTGGAATGTGGGC -3'

Sequencing Primer
(F):5'- GTCACCGTATTTCTTCCACAGG -3'
(R):5'- TGGGCTGCCTGCATGAG -3'
Posted On2014-01-05