Incidental Mutation 'R6988:Ogdh'
ID 543094
Institutional Source Beutler Lab
Gene Symbol Ogdh
Ensembl Gene ENSMUSG00000020456
Gene Name oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
Synonyms 2210403E04Rik, alpha-ketoglutarate dehydrogenase, d1401, 2210412K19Rik
Accession Numbers

Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350

Essential gene? Essential (E-score: 1.000) question?
Stock # R6988 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 6291633-6356642 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 6313806 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 81 (R81*)
Ref Sequence ENSEMBL: ENSMUSP00000117323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554] [ENSMUST00000135124] [ENSMUST00000140765]
AlphaFold Q60597
Predicted Effect probably null
Transcript: ENSMUST00000003461
AA Change: R81*
SMART Domains Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: R81*

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 null
Transcript: ENSMUST00000081894
AA Change: R81*
SMART Domains Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: R81*

DomainStartEndE-ValueType
Pfam:E1_dh 252 578 1e-96 PFAM
Transket_pyr 647 861 3.44e-50 SMART
Predicted Effect probably null
Transcript: ENSMUST00000093350
AA Change: R81*
SMART Domains Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: R81*

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 null
Transcript: ENSMUST00000101554
AA Change: R81*
SMART Domains Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: R81*

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 null
Transcript: ENSMUST00000135124
AA Change: R81*
Predicted Effect probably null
Transcript: ENSMUST00000140765
AA Change: R81*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T G 4: 137,454,579 (GRCm38) L15W probably damaging Het
4930550C14Rik G A 9: 53,411,756 (GRCm38) V31I possibly damaging Het
4932415D10Rik T C 10: 82,291,899 (GRCm38) D1759G possibly damaging Het
Adgre1 C T 17: 57,408,445 (GRCm38) S255F probably benign Het
Aff4 T G 11: 53,398,237 (GRCm38) S404R probably damaging Het
Akr1c19 A T 13: 4,233,758 (GRCm38) probably benign Het
Ankrd31 T A 13: 96,878,249 (GRCm38) I1342K probably damaging Het
Arhgap5 T A 12: 52,518,125 (GRCm38) D626E possibly damaging Het
Arhgef1 G A 7: 24,916,923 (GRCm38) V332I probably benign Het
AY358078 A G 14: 51,826,187 (GRCm38) E430G probably damaging Het
B4gat1 T A 19: 5,040,434 (GRCm38) I395N probably benign Het
Bub1b T A 2: 118,636,830 (GRCm38) I878N probably damaging Het
Ccdc150 C T 1: 54,355,709 (GRCm38) Q745* probably null Het
Ccl19 A T 4: 42,754,885 (GRCm38) I87N probably damaging Het
Ces2g G C 8: 104,963,908 (GRCm38) G107A probably benign Het
Chpt1 A G 10: 88,488,406 (GRCm38) V180A probably damaging Het
Col2a1 T C 15: 98,004,454 (GRCm38) T14A unknown Het
Dnah7a T C 1: 53,582,625 (GRCm38) I1114V possibly damaging Het
Dnah7c T C 1: 46,666,213 (GRCm38) I2462T possibly damaging Het
Dnah8 T C 17: 30,643,275 (GRCm38) F208S probably damaging Het
Dnhd1 A G 7: 105,714,210 (GRCm38) E3993G probably damaging Het
Erv3 C T 2: 131,855,966 (GRCm38) D158N possibly damaging Het
Exoc6 T A 19: 37,609,091 (GRCm38) F647I probably damaging Het
Fbrs G A 7: 127,479,508 (GRCm38) probably benign Het
Fgfr1op2 T C 6: 146,589,965 (GRCm38) F109L probably damaging Het
Fv1 T C 4: 147,869,271 (GRCm38) F98S possibly damaging Het
Gm436 A G 4: 144,686,325 (GRCm38) F15S probably benign Het
H2-M10.1 T C 17: 36,325,592 (GRCm38) K107E probably benign Het
Hspg2 A T 4: 137,528,890 (GRCm38) Q1436L probably damaging Het
Ighv1-74 T C 12: 115,802,763 (GRCm38) Y79C probably damaging Het
Kcnj1 G A 9: 32,396,585 (GRCm38) V102I probably benign Het
Mnt C A 11: 74,842,809 (GRCm38) probably benign Het
Mrpl15 T C 1: 4,782,660 (GRCm38) T112A probably benign Het
Ncdn T C 4: 126,747,189 (GRCm38) D506G probably benign Het
Olfr791 T A 10: 129,526,673 (GRCm38) S149T probably benign Het
Olfr815 G C 10: 129,902,409 (GRCm38) F100L probably damaging Het
Pole G T 5: 110,329,583 (GRCm38) V1863F probably damaging Het
Pramel5 T C 4: 144,274,007 (GRCm38) probably benign Het
Rabep1 A G 11: 70,934,537 (GRCm38) K636E probably damaging Het
Rasgrf2 T A 13: 91,885,635 (GRCm38) Y1151F probably benign Het
Rrad A G 8: 104,630,636 (GRCm38) V93A probably damaging Het
Sesn3 A T 9: 14,310,257 (GRCm38) R118* probably null Het
Slc27a3 T C 3: 90,386,290 (GRCm38) N596S probably benign Het
Snx19 C A 9: 30,428,935 (GRCm38) D456E probably damaging Het
Supt20 T C 3: 54,698,597 (GRCm38) S35P probably damaging Het
Syde2 G T 3: 146,019,809 (GRCm38) R885L probably benign Het
Synm G A 7: 67,733,658 (GRCm38) L1419F probably damaging Het
Tcrg-V6 G T 13: 19,190,644 (GRCm38) G40W possibly damaging Het
Tekt2 A G 4: 126,323,443 (GRCm38) F221L probably benign Het
Ticam1 C T 17: 56,269,900 (GRCm38) E732K probably benign Het
Tmem39b A G 4: 129,693,148 (GRCm38) I90T possibly damaging Het
Trib2 A G 12: 15,815,338 (GRCm38) S79P probably damaging Het
Usp32 T C 11: 85,010,143 (GRCm38) M1084V probably benign Het
Vmn1r181 T C 7: 23,984,847 (GRCm38) F246L probably damaging Het
Wnt16 A G 6: 22,288,511 (GRCm38) D2G probably damaging Het
Zfp462 A G 4: 55,080,716 (GRCm38) E1357G probably benign Het
Zhx3 A G 2: 160,779,868 (GRCm38) M793T probably benign Het
Other mutations in Ogdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Ogdh APN 11 6,348,790 (GRCm38) missense probably damaging 1.00
IGL01503:Ogdh APN 11 6,355,069 (GRCm38) missense probably damaging 1.00
IGL01684:Ogdh APN 11 6,342,546 (GRCm38) missense probably damaging 1.00
IGL02141:Ogdh APN 11 6,355,015 (GRCm38) missense probably damaging 1.00
IGL02313:Ogdh APN 11 6,355,400 (GRCm38) missense probably damaging 0.98
IGL02818:Ogdh APN 11 6,348,270 (GRCm38) missense probably benign
N/A - 535:Ogdh UTSW 11 6,324,911 (GRCm38) missense possibly damaging 0.60
PIT4498001:Ogdh UTSW 11 6,340,504 (GRCm38) missense probably benign 0.09
R0328:Ogdh UTSW 11 6,347,216 (GRCm38) missense probably benign 0.01
R0505:Ogdh UTSW 11 6,339,936 (GRCm38) splice site probably benign
R0627:Ogdh UTSW 11 6,347,216 (GRCm38) missense possibly damaging 0.78
R1119:Ogdh UTSW 11 6,340,544 (GRCm38) missense probably damaging 1.00
R1480:Ogdh UTSW 11 6,347,827 (GRCm38) critical splice acceptor site probably null
R1591:Ogdh UTSW 11 6,349,384 (GRCm38) missense probably damaging 1.00
R1804:Ogdh UTSW 11 6,338,565 (GRCm38) missense probably damaging 1.00
R1873:Ogdh UTSW 11 6,340,438 (GRCm38) splice site probably benign
R1959:Ogdh UTSW 11 6,346,638 (GRCm38) missense possibly damaging 0.49
R2004:Ogdh UTSW 11 6,334,626 (GRCm38) missense possibly damaging 0.90
R2080:Ogdh UTSW 11 6,349,393 (GRCm38) missense probably benign 0.00
R2384:Ogdh UTSW 11 6,342,526 (GRCm38) missense probably damaging 1.00
R2656:Ogdh UTSW 11 6,348,678 (GRCm38) missense probably benign
R2883:Ogdh UTSW 11 6,334,545 (GRCm38) missense probably damaging 1.00
R3405:Ogdh UTSW 11 6,349,462 (GRCm38) missense probably damaging 1.00
R3838:Ogdh UTSW 11 6,338,627 (GRCm38) nonsense probably null
R3933:Ogdh UTSW 11 6,342,601 (GRCm38) missense possibly damaging 0.72
R3939:Ogdh UTSW 11 6,350,655 (GRCm38) nonsense probably null
R4296:Ogdh UTSW 11 6,349,374 (GRCm38) missense probably damaging 0.97
R4393:Ogdh UTSW 11 6,316,772 (GRCm38) missense probably damaging 1.00
R4427:Ogdh UTSW 11 6,355,421 (GRCm38) missense probably benign 0.01
R4667:Ogdh UTSW 11 6,340,600 (GRCm38) missense probably benign 0.20
R4669:Ogdh UTSW 11 6,340,600 (GRCm38) missense probably benign 0.20
R4728:Ogdh UTSW 11 6,342,549 (GRCm38) missense probably damaging 1.00
R4737:Ogdh UTSW 11 6,297,044 (GRCm38) missense probably benign
R4785:Ogdh UTSW 11 6,349,875 (GRCm38) missense probably damaging 1.00
R4796:Ogdh UTSW 11 6,340,570 (GRCm38) missense probably benign 0.01
R5333:Ogdh UTSW 11 6,352,126 (GRCm38) missense probably damaging 1.00
R5592:Ogdh UTSW 11 6,316,763 (GRCm38) splice site probably null
R6318:Ogdh UTSW 11 6,349,390 (GRCm38) missense probably damaging 0.99
R6875:Ogdh UTSW 11 6,340,477 (GRCm38) missense probably benign 0.12
R7406:Ogdh UTSW 11 6,348,351 (GRCm38) missense probably benign 0.00
R7724:Ogdh UTSW 11 6,324,887 (GRCm38) missense probably benign
R7763:Ogdh UTSW 11 6,338,558 (GRCm38) missense probably benign
R7909:Ogdh UTSW 11 6,313,965 (GRCm38) missense possibly damaging 0.55
R8207:Ogdh UTSW 11 6,349,329 (GRCm38) missense probably benign 0.38
R8348:Ogdh UTSW 11 6,342,619 (GRCm38) missense probably damaging 0.98
R8401:Ogdh UTSW 11 6,297,174 (GRCm38) nonsense probably null
R8448:Ogdh UTSW 11 6,342,619 (GRCm38) missense probably damaging 0.98
R8770:Ogdh UTSW 11 6,355,336 (GRCm38) missense probably damaging 1.00
R8796:Ogdh UTSW 11 6,347,129 (GRCm38) missense possibly damaging 0.75
R9132:Ogdh UTSW 11 6,340,488 (GRCm38) missense probably benign 0.01
R9328:Ogdh UTSW 11 6,347,838 (GRCm38) missense probably benign 0.30
R9479:Ogdh UTSW 11 6,347,854 (GRCm38) missense possibly damaging 0.89
R9696:Ogdh UTSW 11 6,339,209 (GRCm38) missense probably damaging 1.00
Z1088:Ogdh UTSW 11 6,355,427 (GRCm38) missense probably benign
Z1177:Ogdh UTSW 11 6,316,982 (GRCm38) missense probably benign 0.07
Z1177:Ogdh UTSW 11 6,297,051 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTTTGTGAGGTGGGTTAAGTAATAA -3'
(R):5'- CCTGATATGCCCTGATGAGAGA -3'

Sequencing Primer
(F):5'- ACTGCTCTTCCAAAGGTACTGAG -3'
(R):5'- TATGCCCTGATGAGAGACTGCAC -3'
Posted On 2018-11-28