Incidental Mutation 'R4296:Ogdh'
ID 323343
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 041656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4296 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 6241633-6306642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 6299374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 743 (F743V)
Ref Sequence ENSEMBL: ENSMUSP00000080569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554]
AlphaFold Q60597
Predicted Effect possibly damaging
Transcript: ENSMUST00000003461
AA Change: F747V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: F747V

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: F743V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: F743V

DomainStartEndE-ValueType
Pfam:E1_dh 252 578 1e-96 PFAM
Transket_pyr 647 861 3.44e-50 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000093350
AA Change: F758V

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: F758V

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 possibly damaging
Transcript: ENSMUST00000101554
AA Change: F747V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: F747V

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G T 19: 43,811,513 (GRCm39) G993C probably damaging Het
Abcc2 G C 19: 43,811,514 (GRCm39) G993A probably damaging Het
Abi3bp A T 16: 56,488,673 (GRCm39) H810L probably benign Het
Aldh1l2 T C 10: 83,358,641 (GRCm39) D5G probably benign Het
Aldh7a1 A T 18: 56,678,035 (GRCm39) probably null Het
Aox1 T A 1: 58,096,559 (GRCm39) probably null Het
Apbb1 G T 7: 105,223,033 (GRCm39) Q193K probably benign Het
Arl9 C A 5: 77,154,396 (GRCm39) N41K probably damaging Het
Armc1 A G 3: 19,203,680 (GRCm39) M82T probably damaging Het
Bms1 T C 6: 118,381,960 (GRCm39) E526G probably damaging Het
Cacna1a C T 8: 85,285,922 (GRCm39) R809C probably damaging Het
Cd200r1 T C 16: 44,610,033 (GRCm39) I84T probably damaging Het
Cgrrf1 T C 14: 47,069,812 (GRCm39) V27A probably damaging Het
Clec4f G A 6: 83,629,557 (GRCm39) Q334* probably null Het
Cpeb3 C T 19: 37,151,389 (GRCm39) G329D possibly damaging Het
Ctnnbl1 C T 2: 157,661,490 (GRCm39) probably null Het
Dip2b A T 15: 100,079,217 (GRCm39) M810L probably benign Het
Eml3 T C 19: 8,908,773 (GRCm39) S158P probably damaging Het
Eps8l2 G T 7: 140,938,175 (GRCm39) E470* probably null Het
Flt3l A G 7: 44,783,428 (GRCm39) F146S probably damaging Het
Glmn A T 5: 107,706,368 (GRCm39) V419E possibly damaging Het
Gm11360 T A 13: 28,140,295 (GRCm39) I53N probably damaging Het
Gpbp1l1 T A 4: 116,444,656 (GRCm39) V275D possibly damaging Het
Harbi1 T A 2: 91,543,100 (GRCm39) M187K possibly damaging Het
Has3 T C 8: 107,605,054 (GRCm39) V420A possibly damaging Het
Huwe1 C A X: 150,671,444 (GRCm39) T1012K probably benign Het
Iqcg G A 16: 32,837,345 (GRCm39) probably benign Het
Itga4 G A 2: 79,103,143 (GRCm39) G111R probably damaging Het
Keap1 A G 9: 21,145,282 (GRCm39) S243P probably damaging Het
Kmt2a C T 9: 44,732,472 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,098 (GRCm39) N286S probably damaging Het
Ltbp3 A T 19: 5,806,610 (GRCm39) probably null Het
Mbtps1 C T 8: 120,249,238 (GRCm39) C684Y possibly damaging Het
Mcm3ap A T 10: 76,343,171 (GRCm39) I1688F probably damaging Het
Midn C T 10: 79,987,553 (GRCm39) T21I probably damaging Het
Naf1 C T 8: 67,342,114 (GRCm39) P580S possibly damaging Het
Nherf4 G A 9: 44,160,158 (GRCm39) R349C probably benign Het
Nlrp3 A T 11: 59,440,487 (GRCm39) E688V possibly damaging Het
Nusap1 A G 2: 119,470,129 (GRCm39) H259R probably damaging Het
Nxpe4 A G 9: 48,310,284 (GRCm39) T516A probably damaging Het
Oas1g T A 5: 121,017,230 (GRCm39) T275S probably damaging Het
Or5aq6 T C 2: 86,922,974 (GRCm39) T256A probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6c215 C A 10: 129,638,169 (GRCm39) C75F probably damaging Het
Or6c75 C A 10: 129,337,339 (GRCm39) C195* probably null Het
Or9i1b A G 19: 13,896,717 (GRCm39) E111G probably damaging Het
Peg10 GGAT GGATCCCCATCATGAT 6: 4,756,472 (GRCm39) probably benign Het
Piezo1 T A 8: 123,217,866 (GRCm39) Y819F probably damaging Het
Plekhg2 C A 7: 28,070,591 (GRCm39) G20C probably damaging Het
Polq A G 16: 36,881,663 (GRCm39) T997A possibly damaging Het
Polr3a T A 14: 24,503,264 (GRCm39) Q1190L possibly damaging Het
Ppp1r15a T A 7: 45,173,173 (GRCm39) K800* probably null Het
Prkdc T A 16: 15,555,769 (GRCm39) M2181K probably damaging Het
Pskh1 C A 8: 106,639,536 (GRCm39) A72E probably benign Het
Purg T C 8: 33,877,321 (GRCm39) Y320H probably damaging Het
Rab3gap2 T A 1: 184,988,034 (GRCm39) probably null Het
Rnps1 T A 17: 24,644,089 (GRCm39) probably benign Het
Scgb2b21 A T 7: 33,219,233 (GRCm39) V57E probably benign Het
Sdhaf2 A T 19: 10,502,439 (GRCm39) I7N probably benign Het
Six4 A G 12: 73,150,899 (GRCm39) Y549H probably damaging Het
Slc4a10 G T 2: 62,064,772 (GRCm39) V209F possibly damaging Het
Slc4a11 C A 2: 130,526,927 (GRCm39) V734F probably benign Het
Stk4 T A 2: 163,959,904 (GRCm39) M27K possibly damaging Het
Tecrl A T 5: 83,461,174 (GRCm39) C79* probably null Het
Tgm3 G T 2: 129,880,333 (GRCm39) V380L possibly damaging Het
Tiam2 A T 17: 3,501,120 (GRCm39) M920L probably benign Het
Tjp1 T C 7: 64,968,237 (GRCm39) N729S probably damaging Het
Tlr12 A G 4: 128,511,581 (GRCm39) L223P probably damaging Het
Tmem268 T C 4: 63,484,005 (GRCm39) probably null Het
Tmpo A T 10: 90,998,818 (GRCm39) I323K possibly damaging Het
Tmx4 T C 2: 134,440,549 (GRCm39) S302G probably benign Het
Trip11 C A 12: 101,852,127 (GRCm39) E361* probably null Het
Tspyl3 T A 2: 153,067,076 (GRCm39) N54I possibly damaging Het
Upp2 A T 2: 58,668,021 (GRCm39) Y220F probably damaging Het
Usp22 G T 11: 61,052,290 (GRCm39) probably null Het
Vezt ACTCCTCCT ACTCCT 10: 93,809,793 (GRCm39) probably benign Het
Vmn1r235 G T 17: 21,482,562 (GRCm39) G296W probably damaging Het
Vmn1r89 T C 7: 12,954,113 (GRCm39) V94A possibly damaging Het
Zfp607a A T 7: 27,565,073 (GRCm39) E80V probably 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
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
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'- AGGCCCCTTACACTGTATGC -3'
(R):5'- GACGAATCAAGAGAACCCTCGG -3'

Sequencing Primer
(F):5'- TTCATGGTGGTCCTGAAC -3'
(R):5'- AACCCTCGGCCTTGTTAGGATAG -3'
Posted On 2015-06-20