Mutagenetix > Incidental Mutation

Incidental Mutation 'R2004:Ogdh'

223428

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

040013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6241633-6306642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 6284626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 200 (R200P)

Ref Sequence

ENSEMBL: ENSMUSP00000080569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554]

AlphaFold

Q60597

Predicted Effect

probably benign
Transcript: ENSMUST00000003461
AA Change: R204P

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: R204P

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000081894
AA Change: R200P

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: R200P

Domain	Start	End	E-Value	Type
Pfam:E1_dh	252	578	1e-96	PFAM
Transket_pyr	647	861	3.44e-50	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093350
AA Change: R215P

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: R215P

Domain	Start	End	E-Value	Type
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: R204P

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: R204P

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,092,561 (GRCm39)	Y146*	probably null	Het
Adcy2	A	G	13: 68,944,722 (GRCm39)	L220P	probably damaging	Het
Agl	T	C	3: 116,574,914 (GRCm39)	Y660C	probably damaging	Het
Ak1	A	G	2: 32,519,622 (GRCm39)	T17A	probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ankrd11	A	T	8: 123,629,161 (GRCm39)		probably null	Het
Ap5b1	T	C	19: 5,620,502 (GRCm39)	S641P	possibly damaging	Het
Apoc4	A	G	7: 19,415,304 (GRCm39)	M1T	probably null	Het
Arhgap5	T	C	12: 52,564,817 (GRCm39)	V596A	probably benign	Het
Ascc3	A	G	10: 50,493,838 (GRCm39)	E91G	probably damaging	Het
Bach2	T	A	4: 32,580,055 (GRCm39)	V637E	probably benign	Het
Bicd2	T	G	13: 49,532,881 (GRCm39)	L489R	possibly damaging	Het
Bltp1	C	T	3: 36,949,527 (GRCm39)	T2I	possibly damaging	Het
Boc	A	T	16: 44,322,007 (GRCm39)		probably null	Het
Cbln2	T	A	18: 86,734,791 (GRCm39)	V188D	probably damaging	Het
Ccl11	A	C	11: 81,953,123 (GRCm39)	T94P	probably damaging	Het
Cd109	A	T	9: 78,611,044 (GRCm39)	H1220L	probably benign	Het
Cd226	A	G	18: 89,265,435 (GRCm39)	I125V	probably benign	Het
Cep135	T	A	5: 76,780,176 (GRCm39)		probably null	Het
Cgnl1	T	G	9: 71,537,821 (GRCm39)	E1233A	probably damaging	Het
Ckap5	T	A	2: 91,437,891 (GRCm39)	D1597E	possibly damaging	Het
Clptm1	A	G	7: 19,380,762 (GRCm39)	I63T	possibly damaging	Het
Cpsf7	C	T	19: 10,518,073 (GRCm39)	P428S	probably damaging	Het
Cuedc1	C	T	11: 88,068,216 (GRCm39)	P155S	probably damaging	Het
Dgkb	T	C	12: 38,134,228 (GRCm39)	Y45H	probably damaging	Het
Dglucy	T	C	12: 100,823,181 (GRCm39)	F459L	probably damaging	Het
Dmp1	T	A	5: 104,359,790 (GRCm39)	D155E	possibly damaging	Het
Dnah1	T	A	14: 31,023,813 (GRCm39)	I960F	possibly damaging	Het
Drosha	G	T	15: 12,915,467 (GRCm39)	M795I	probably damaging	Het
Dsg1b	A	G	18: 20,529,532 (GRCm39)	T326A	probably damaging	Het
Dusp16	T	G	6: 134,695,802 (GRCm39)	N343T	probably benign	Het
Faim2	T	C	15: 99,398,127 (GRCm39)	S274G	possibly damaging	Het
Fhip2a	G	T	19: 57,370,324 (GRCm39)	V523L	probably benign	Het
Fndc1	T	C	17: 8,023,761 (GRCm39)	R65G	probably damaging	Het
Fnip2	A	T	3: 79,419,632 (GRCm39)		probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Herc2	T	C	7: 55,787,607 (GRCm39)	F1755L	probably damaging	Het
Hivep1	C	T	13: 42,313,625 (GRCm39)	T1955I	possibly damaging	Het
Ift20	T	C	11: 78,431,797 (GRCm39)	I97T	probably damaging	Het
Il36rn	T	C	2: 24,171,376 (GRCm39)	C155R	probably damaging	Het
Lca5l	T	A	16: 95,963,849 (GRCm39)	K358N	probably damaging	Het
Lca5l	T	C	16: 95,977,218 (GRCm39)	N196S	possibly damaging	Het
Maf1	G	A	15: 76,237,563 (GRCm39)	D175N	probably damaging	Het
Mical3	T	C	6: 120,928,283 (GRCm39)	K996E	probably damaging	Het
Midn	A	G	10: 79,990,983 (GRCm39)	N331S	probably benign	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mlx	A	G	11: 100,979,805 (GRCm39)	Q162R	possibly damaging	Het
Nalf1	A	G	8: 9,820,607 (GRCm39)	S138P	probably benign	Het
Ngp	T	C	9: 110,249,929 (GRCm39)	C76R	probably damaging	Het
Nin	C	T	12: 70,072,251 (GRCm39)	G1210D	probably benign	Het
Nlgn1	A	G	3: 25,488,034 (GRCm39)	I738T	probably benign	Het
Nop53	A	C	7: 15,672,153 (GRCm39)	F465C	probably damaging	Het
Npas3	A	G	12: 54,114,680 (GRCm39)	D503G	possibly damaging	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Nup42	G	T	5: 24,386,989 (GRCm39)	G260*	probably null	Het
Or4b13	T	A	2: 90,083,036 (GRCm39)	I99L	probably benign	Het
Or52n20	A	G	7: 104,320,808 (GRCm39)	T300A	possibly damaging	Het
Or5m13b	T	G	2: 85,753,939 (GRCm39)		probably null	Het
Or6ae1	C	T	7: 139,742,729 (GRCm39)	V45I	probably damaging	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Or7g33	A	T	9: 19,448,688 (GRCm39)	C179*	probably null	Het
Ovgp1	T	A	3: 105,894,309 (GRCm39)		probably benign	Het
Papln	T	A	12: 83,819,992 (GRCm39)	C150S	probably damaging	Het
Pde1c	A	T	6: 56,135,996 (GRCm39)	L316Q	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Piezo2	G	T	18: 63,277,997 (GRCm39)	D302E	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plin1	A	G	7: 79,375,378 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,688,484 (GRCm39)	I698T	probably damaging	Het
Ppp1r12c	G	T	7: 4,485,974 (GRCm39)	C572*	probably null	Het
Ptgis	T	C	2: 167,056,769 (GRCm39)	M273V	possibly damaging	Het
Samd14	C	A	11: 94,914,110 (GRCm39)	T283K	probably damaging	Het
Scnn1g	A	T	7: 121,337,411 (GRCm39)	K91*	probably null	Het
Slc24a4	A	G	12: 102,180,166 (GRCm39)	Q95R	probably damaging	Het
Slfn9	T	G	11: 82,879,027 (GRCm39)	D34A	probably benign	Het
Smarca4	A	T	9: 21,588,776 (GRCm39)	I1193F	probably damaging	Het
Spata31e5	A	G	1: 28,816,260 (GRCm39)	W591R	probably damaging	Het
Sphkap	T	C	1: 83,255,632 (GRCm39)	M706V	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stxbp1	T	C	2: 32,688,201 (GRCm39)	D488G	probably damaging	Het
Sugp2	C	T	8: 70,695,306 (GRCm39)		probably null	Het
Tekt5	T	C	16: 10,213,070 (GRCm39)	I72V	probably benign	Het
Themis	T	A	10: 28,658,720 (GRCm39)	N582K	probably benign	Het
Tmed11	C	A	5: 108,934,000 (GRCm39)	M65I	possibly damaging	Het
Top3a	G	T	11: 60,633,315 (GRCm39)	P927Q	probably damaging	Het
Trpa1	A	T	1: 14,976,207 (GRCm39)	N165K	possibly damaging	Het
Tsfm	A	G	10: 126,866,663 (GRCm39)	S2P	probably damaging	Het
Wdr47	C	A	3: 108,534,758 (GRCm39)	S559*	probably null	Het
Wnt2b	T	C	3: 104,860,331 (GRCm39)	Y192C	probably damaging	Het
Zfp280b	A	G	10: 75,874,370 (GRCm39)	D83G	probably benign	Het
Zfp345	T	C	2: 150,314,038 (GRCm39)	T500A	possibly damaging	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	Het

Other mutations in Ogdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGCTTGTTTTCATATACATCAGGGG -3'
(R):5'- TCAGTTTCTTAAAACCACAGGACC -3'

Sequencing Primer
(F):5'- ACATCAGGGGTATGTGATATTTTTC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'

Posted On

2014-08-25