Incidental Mutation 'R0328:Ogdh'
ID 25880
Institutional Source Beutler Lab
Gene Symbol Ogdh
Ensembl Gene ENSMUSG00000020456
Gene Name oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
Synonyms alpha-ketoglutarate dehydrogenase, 2210403E04Rik, 2210412K19Rik, d1401
MMRRC Submission 038537-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0328 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 6241633-6306642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6297216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 545 (V545A)
Ref Sequence ENSEMBL: ENSMUSP00000099090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554]
AlphaFold Q60597
Predicted Effect probably benign
Transcript: ENSMUST00000003461
AA Change: V545A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: V545A

DomainStartEndE-ValueType
Blast:Transket_pyr 131 199 8e-13 BLAST
Pfam:E1_dh 256 582 1.4e-95 PFAM
Transket_pyr 651 865 3.44e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081894
AA Change: V541A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: V541A

DomainStartEndE-ValueType
Pfam:E1_dh 252 578 1e-96 PFAM
Transket_pyr 647 861 3.44e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093350
AA Change: V556A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: V556A

DomainStartEndE-ValueType
Pfam:2-oxogl_dehyd_N 47 87 6.6e-21 PFAM
Pfam:E1_dh 267 593 1.1e-101 PFAM
Transket_pyr 662 876 3.44e-50 SMART
Pfam:OxoGdeHyase_C 880 1025 8.7e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101554
AA Change: V545A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: V545A

DomainStartEndE-ValueType
Blast:Transket_pyr 131 199 8e-13 BLAST
Pfam:E1_dh 256 582 1.4e-95 PFAM
Transket_pyr 651 865 3.44e-50 SMART
Meta Mutation Damage Score 0.1496 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.5%
  • 20x: 90.8%
Validation Efficiency 96% (46/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,574,624 (GRCm39) H618L possibly damaging Het
Aacs T C 5: 125,593,323 (GRCm39) V642A probably benign Het
Alms1 A G 6: 85,587,796 (GRCm39) probably null Het
Arhgap39 A G 15: 76,636,152 (GRCm39) probably benign Het
Bard1 C T 1: 71,085,921 (GRCm39) V595I probably benign Het
Bptf T C 11: 106,937,953 (GRCm39) K2713E probably damaging Het
Calhm1 C T 19: 47,129,742 (GRCm39) G260D possibly damaging Het
Ccdc154 A C 17: 25,390,779 (GRCm39) K643T probably benign Het
Ccl4 T A 11: 83,554,383 (GRCm39) S59T probably damaging Het
Cntd1 T C 11: 101,174,259 (GRCm39) S73P probably benign Het
Colgalt2 A T 1: 152,348,859 (GRCm39) D168V probably damaging Het
Fam117a T C 11: 95,266,452 (GRCm39) probably benign Het
Fat1 A G 8: 45,476,827 (GRCm39) T1935A probably benign Het
Fbxw21 T A 9: 108,975,653 (GRCm39) I248F possibly damaging Het
Fhod3 A T 18: 25,246,657 (GRCm39) M1288L probably benign Het
Gm5114 T G 7: 39,057,885 (GRCm39) K578T probably damaging Het
Gxylt2 A T 6: 100,727,496 (GRCm39) probably benign Het
Helz G T 11: 107,495,174 (GRCm39) A383S probably benign Het
Ift172 C A 5: 31,421,195 (GRCm39) E968* probably null Het
Itpripl1 T C 2: 126,983,924 (GRCm39) N66S possibly damaging Het
Kcnma1 A G 14: 23,423,265 (GRCm39) Y686H probably damaging Het
Ndrg1 C A 15: 66,815,008 (GRCm39) probably benign Het
Or10al5 A G 17: 38,063,284 (GRCm39) I180V possibly damaging Het
P3h3 G A 6: 124,831,269 (GRCm39) probably benign Het
Ppme1 A T 7: 99,983,182 (GRCm39) probably null Het
Prkag1 T G 15: 98,713,563 (GRCm39) D44A probably damaging Het
Prpf39 T C 12: 65,090,145 (GRCm39) probably benign Het
Rabep1 C A 11: 70,810,033 (GRCm39) R489S probably damaging Het
Scn10a A G 9: 119,523,168 (GRCm39) V75A possibly damaging Het
Sema3d T C 5: 12,498,042 (GRCm39) L16P possibly damaging Het
Skida1 T C 2: 18,051,997 (GRCm39) probably benign Het
Sptbn4 T C 7: 27,063,595 (GRCm39) Y2277C probably damaging Het
Syne1 A G 10: 5,298,945 (GRCm39) I1047T possibly damaging Het
Syt17 A G 7: 117,981,216 (GRCm39) Y369H probably benign Het
Tmem131l C T 3: 83,829,238 (GRCm39) probably benign Het
Traf3ip2 A T 10: 39,510,669 (GRCm39) D314V probably damaging Het
Ttc28 T G 5: 111,431,933 (GRCm39) probably benign Het
Ush1c A C 7: 45,874,872 (GRCm39) probably benign Het
Utp20 A T 10: 88,602,969 (GRCm39) Y1884N possibly damaging Het
Vmn2r112 T A 17: 22,824,251 (GRCm39) I502K probably benign Het
Vmn2r60 T C 7: 41,791,744 (GRCm39) probably benign Het
Vmn2r63 T C 7: 42,552,699 (GRCm39) I852M probably benign Het
Vmn2r9 T A 5: 108,995,405 (GRCm39) E414D probably benign Het
Wnt4 A G 4: 137,022,754 (GRCm39) T106A probably damaging Het
Zbtb26 A T 2: 37,326,807 (GRCm39) N76K possibly damaging Het
Zfhx2 T C 14: 55,309,445 (GRCm39) T885A probably benign Het
Other mutations in Ogdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Ogdh APN 11 6,298,790 (GRCm39) missense probably damaging 1.00
IGL01503:Ogdh APN 11 6,305,069 (GRCm39) missense probably damaging 1.00
IGL01684:Ogdh APN 11 6,292,546 (GRCm39) missense probably damaging 1.00
IGL02141:Ogdh APN 11 6,305,015 (GRCm39) missense probably damaging 1.00
IGL02313:Ogdh APN 11 6,305,400 (GRCm39) missense probably damaging 0.98
IGL02818:Ogdh APN 11 6,298,270 (GRCm39) missense probably benign
N/A - 535:Ogdh UTSW 11 6,274,911 (GRCm39) missense possibly damaging 0.60
PIT4498001:Ogdh UTSW 11 6,290,504 (GRCm39) missense probably benign 0.09
R0505:Ogdh UTSW 11 6,289,936 (GRCm39) splice site probably benign
R0627:Ogdh UTSW 11 6,297,216 (GRCm39) missense possibly damaging 0.78
R1119:Ogdh UTSW 11 6,290,544 (GRCm39) missense probably damaging 1.00
R1480:Ogdh UTSW 11 6,297,827 (GRCm39) critical splice acceptor site probably null
R1591:Ogdh UTSW 11 6,299,384 (GRCm39) missense probably damaging 1.00
R1804:Ogdh UTSW 11 6,288,565 (GRCm39) missense probably damaging 1.00
R1873:Ogdh UTSW 11 6,290,438 (GRCm39) splice site probably benign
R1959:Ogdh UTSW 11 6,296,638 (GRCm39) missense possibly damaging 0.49
R2004:Ogdh UTSW 11 6,284,626 (GRCm39) missense possibly damaging 0.90
R2080:Ogdh UTSW 11 6,299,393 (GRCm39) missense probably benign 0.00
R2384:Ogdh UTSW 11 6,292,526 (GRCm39) missense probably damaging 1.00
R2656:Ogdh UTSW 11 6,298,678 (GRCm39) missense probably benign
R2883:Ogdh UTSW 11 6,284,545 (GRCm39) missense probably damaging 1.00
R3405:Ogdh UTSW 11 6,299,462 (GRCm39) missense probably damaging 1.00
R3838:Ogdh UTSW 11 6,288,627 (GRCm39) nonsense probably null
R3933:Ogdh UTSW 11 6,292,601 (GRCm39) missense possibly damaging 0.72
R3939:Ogdh UTSW 11 6,300,655 (GRCm39) nonsense probably null
R4296:Ogdh UTSW 11 6,299,374 (GRCm39) missense probably damaging 0.97
R4393:Ogdh UTSW 11 6,266,772 (GRCm39) missense probably damaging 1.00
R4427:Ogdh UTSW 11 6,305,421 (GRCm39) missense probably benign 0.01
R4667:Ogdh UTSW 11 6,290,600 (GRCm39) missense probably benign 0.20
R4669:Ogdh UTSW 11 6,290,600 (GRCm39) missense probably benign 0.20
R4728:Ogdh UTSW 11 6,292,549 (GRCm39) missense probably damaging 1.00
R4737:Ogdh UTSW 11 6,247,044 (GRCm39) missense probably benign
R4785:Ogdh UTSW 11 6,299,875 (GRCm39) missense probably damaging 1.00
R4796:Ogdh UTSW 11 6,290,570 (GRCm39) missense probably benign 0.01
R5333:Ogdh UTSW 11 6,302,126 (GRCm39) missense probably damaging 1.00
R5592:Ogdh UTSW 11 6,266,763 (GRCm39) splice site probably null
R6318:Ogdh UTSW 11 6,299,390 (GRCm39) missense probably damaging 0.99
R6875:Ogdh UTSW 11 6,290,477 (GRCm39) missense probably benign 0.12
R6988:Ogdh UTSW 11 6,263,806 (GRCm39) nonsense probably null
R7406:Ogdh UTSW 11 6,298,351 (GRCm39) missense probably benign 0.00
R7724:Ogdh UTSW 11 6,274,887 (GRCm39) missense probably benign
R7763:Ogdh UTSW 11 6,288,558 (GRCm39) missense probably benign
R7909:Ogdh UTSW 11 6,263,965 (GRCm39) missense possibly damaging 0.55
R8207:Ogdh UTSW 11 6,299,329 (GRCm39) missense probably benign 0.38
R8348:Ogdh UTSW 11 6,292,619 (GRCm39) missense probably damaging 0.98
R8401:Ogdh UTSW 11 6,247,174 (GRCm39) nonsense probably null
R8448:Ogdh UTSW 11 6,292,619 (GRCm39) missense probably damaging 0.98
R8770:Ogdh UTSW 11 6,305,336 (GRCm39) missense probably damaging 1.00
R8796:Ogdh UTSW 11 6,297,129 (GRCm39) missense possibly damaging 0.75
R9132:Ogdh UTSW 11 6,290,488 (GRCm39) missense probably benign 0.01
R9328:Ogdh UTSW 11 6,297,838 (GRCm39) missense probably benign 0.30
R9479:Ogdh UTSW 11 6,297,854 (GRCm39) missense possibly damaging 0.89
R9696:Ogdh UTSW 11 6,289,209 (GRCm39) missense probably damaging 1.00
Z1088:Ogdh UTSW 11 6,305,427 (GRCm39) missense probably benign
Z1177:Ogdh UTSW 11 6,266,982 (GRCm39) missense probably benign 0.07
Z1177:Ogdh UTSW 11 6,247,051 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCGAGTAGTGACAGCCTTGTTGTATC -3'
(R):5'- ACATCTGTATTGCCAGTCTCCAACAC -3'

Sequencing Primer
(F):5'- GACAGCCTTGTTGTATCACACAG -3'
(R):5'- CATGGGTCTAGAACTGCTACTCAG -3'
Posted On 2013-04-16