Incidental Mutation 'R1119:Ogdh'
ID 97760
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 039192-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1119 (G1)
Quality Score 210
Status Validated
Chromosome 11
Chromosomal Location 6241633-6306642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6290544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 376 (H376Q)
Ref Sequence ENSEMBL: ENSMUSP00000099090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554]
AlphaFold Q60597
Predicted Effect probably damaging
Transcript: ENSMUST00000003461
AA Change: H376Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: H376Q

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 damaging
Transcript: ENSMUST00000081894
AA Change: H372Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: H372Q

DomainStartEndE-ValueType
Pfam:E1_dh 252 578 1e-96 PFAM
Transket_pyr 647 861 3.44e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000093350
AA Change: H387Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: H387Q

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 damaging
Transcript: ENSMUST00000101554
AA Change: H376Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: H376Q

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 100% (51/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A C 7: 82,189,525 (GRCm39) E583A probably damaging Het
Aoah T A 13: 21,099,108 (GRCm39) probably benign Het
Atf7ip2 A G 16: 10,058,476 (GRCm39) K305R possibly damaging Het
Bltp1 T G 3: 37,041,194 (GRCm39) V2524G probably damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Cfap57 G A 4: 118,463,873 (GRCm39) Q327* probably null Het
Ckap2l A T 2: 129,114,492 (GRCm39) probably benign Het
Cul2 A G 18: 3,419,335 (GRCm39) probably benign Het
Ddx60 G A 8: 62,395,578 (GRCm39) V172M probably damaging Het
Drp2 T C X: 133,342,071 (GRCm39) L545P probably damaging Het
Ezh1 A G 11: 101,101,361 (GRCm39) probably benign Het
Gipc2 A G 3: 151,799,833 (GRCm39) F299S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hikeshi A G 7: 89,584,938 (GRCm39) S89P probably benign Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Larp1b C A 3: 40,987,963 (GRCm39) R62S possibly damaging Het
Lgr5 A T 10: 115,296,716 (GRCm39) probably null Het
Lpin1 C A 12: 16,613,722 (GRCm39) D449Y probably damaging Het
Macrod2 A T 2: 140,242,826 (GRCm39) I31L probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Ndufa9 A T 6: 126,799,031 (GRCm39) L362Q probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nxpe5 G A 5: 138,237,658 (GRCm39) D61N probably benign Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb14 G A 18: 37,581,640 (GRCm39) V249M probably damaging Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pik3r6 C T 11: 68,436,698 (GRCm39) T654I probably benign Het
Rptn A G 3: 93,303,552 (GRCm39) Y295C possibly damaging Het
Sec16b A G 1: 157,392,404 (GRCm39) D924G possibly damaging Het
Setd1b C A 5: 123,285,779 (GRCm39) T275K unknown Het
Sgcb T A 5: 73,801,757 (GRCm39) K36I probably damaging Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stab2 T C 10: 86,695,619 (GRCm39) D599G possibly damaging Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tax1bp1 C A 6: 52,718,933 (GRCm39) probably benign Het
Thnsl1 A G 2: 21,217,857 (GRCm39) N16S probably damaging Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r60 A T 7: 41,844,365 (GRCm39) Q576L possibly damaging Het
Zfp62 G T 11: 49,107,517 (GRCm39) R536L probably damaging Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y possibly damaging 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
R0328:Ogdh UTSW 11 6,297,216 (GRCm39) missense probably benign 0.01
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
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'- CCATTGAGAGTGAACCTCTCCAACC -3'
(R):5'- GTCCACAGCTAAAACTGGCTCCTAC -3'

Sequencing Primer
(F):5'- ccacctgtctctgcctttc -3'
(R):5'- AACTGGCTCCTACATCGATAC -3'
Posted On 2014-01-05