Incidental Mutation 'R6002:Pdha2'
ID478411
Institutional Source Beutler Lab
Gene Symbol Pdha2
Ensembl Gene ENSMUSG00000047674
Gene Namepyruvate dehydrogenase E1 alpha 2
SynonymsPdhal
MMRRC Submission 044181-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6002 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location141210004-141212355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141211696 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 17 (V17A)
Ref Sequence ENSEMBL: ENSMUSP00000060774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057860]
Predicted Effect probably benign
Transcript: ENSMUST00000057860
AA Change: V17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060774
Gene: ENSMUSG00000047674
AA Change: V17A

DomainStartEndE-ValueType
Pfam:E1_dh 67 363 8.6e-121 PFAM
Meta Mutation Damage Score 0.1212 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.6%
  • 20x: 88.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,662,424 probably null Het
Adam28 A G 14: 68,642,062 L179P probably benign Het
Amer2 G T 14: 60,378,782 G142V possibly damaging Het
Ap2a1 A G 7: 44,904,395 probably null Het
Arhgap32 A G 9: 32,256,979 T753A probably benign Het
Capsl A G 15: 9,461,788 D90G probably damaging Het
Cd96 A T 16: 46,117,986 S39T possibly damaging Het
Cdx2 T A 5: 147,303,234 T211S probably damaging Het
Chd9 A G 8: 90,978,887 Y251C probably damaging Het
Chrna6 C T 8: 27,406,746 V368I probably benign Het
Coro1a G T 7: 126,703,080 Q32K probably benign Het
Cps1 T A 1: 67,172,755 V694E possibly damaging Het
Eif3h A G 15: 51,799,276 Y125H probably benign Het
Fbxw22 A C 9: 109,381,682 Y420* probably null Het
Fgf21 T C 7: 45,615,227 Y27C probably benign Het
Gm7356 A G 17: 14,000,739 S343P probably benign Het
Hmcn2 A G 2: 31,420,309 D3305G probably damaging Het
Kdm4c T A 4: 74,404,969 F1046Y possibly damaging Het
Klk1b27 T A 7: 44,055,690 W94R probably benign Het
Nwd2 A T 5: 63,804,800 M576L probably benign Het
Olfr1484 T C 19: 13,585,417 probably benign Het
Olfr159 T C 4: 43,770,063 H316R probably benign Het
Olfr463 A T 11: 87,893,807 V39E probably damaging Het
Olfr474 A G 7: 107,955,169 H176R probably damaging Het
Pappa T A 4: 65,297,408 V1184D probably damaging Het
Pcyox1 T A 6: 86,392,182 M152L probably benign Het
Pi4k2b A T 5: 52,756,905 I328L probably benign Het
Ppp1r13l T C 7: 19,377,970 F814L probably benign Het
Prag1 A T 8: 36,104,183 H640L probably benign Het
Prl5a1 T C 13: 28,145,482 I48T probably benign Het
Rabgap1 A G 2: 37,473,602 T132A probably benign Het
Sec31b T C 19: 44,535,764 I146V probably benign Het
Slc30a9 A G 5: 67,342,117 Y306C probably damaging Het
Stat3 A G 11: 100,903,743 S247P probably benign Het
Tbc1d1 C A 5: 64,333,433 L747I probably damaging Het
Tbc1d24 A T 17: 24,183,787 M1K probably null Het
Ttc30a1 T C 2: 75,980,777 T321A possibly damaging Het
Vezt A C 10: 94,000,474 V104G probably damaging Het
Zbtb41 A G 1: 139,423,659 D170G probably damaging Het
Zswim2 C A 2: 83,915,688 D469Y probably damaging Het
Other mutations in Pdha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Pdha2 APN 3 141211015 missense possibly damaging 0.48
IGL02037:Pdha2 APN 3 141210901 missense probably damaging 1.00
IGL02202:Pdha2 APN 3 141210651 missense probably benign 0.27
R0352:Pdha2 UTSW 3 141211696 missense probably benign
R1164:Pdha2 UTSW 3 141211499 missense probably damaging 1.00
R1818:Pdha2 UTSW 3 141211199 nonsense probably null
R3826:Pdha2 UTSW 3 141211128 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CCACGGATGAATTTCTGCTTATACAG -3'
(R):5'- TTCCAGCTTGCTGACGTAGG -3'

Sequencing Primer
(F):5'- ATACAGCTGGTCGGCCTTCAAC -3'
(R):5'- CGTAGGCAACGCGTTTG -3'
Posted On2017-06-26