Incidental Mutation 'IGL01064:Pdha2'
ID50686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdha2
Ensembl Gene ENSMUSG00000047674
Gene Namepyruvate dehydrogenase E1 alpha 2
SynonymsPdhal
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01064
Quality Score
Status
Chromosome3
Chromosomal Location141210004-141212355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 141211015 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 244 (H244R)
Ref Sequence ENSEMBL: ENSMUSP00000060774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057860]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057860
AA Change: H244R

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000060774
Gene: ENSMUSG00000047674
AA Change: H244R

DomainStartEndE-ValueType
Pfam:E1_dh 67 363 8.6e-121 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpne6 T C 14: 55,512,730 F106S probably damaging Het
Cysltr1 A T X: 106,578,736 I48N probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Get4 C T 5: 139,252,522 R20C probably damaging Het
Gm13030 G A 4: 138,873,558 probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y200F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tlr7 T A X: 167,308,211 E93V probably damaging Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Trmt10b A G 4: 45,314,347 Y261C possibly damaging Het
Other mutations in Pdha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6002:Pdha2 UTSW 3 141211696 missense probably benign
Posted On2013-06-21