Mutagenetix > Incidental Mutation

Incidental Mutation 'R9580:Idh2'

722500

Institutional Source

Beutler Lab

Gene Symbol

Idh2

Ensembl Gene

ENSMUSG00000030541

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

Idh-2, IDPm

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9580 (G1)

Quality Score

217.68

Status

Not validated

Chromosome

Chromosomal Location

79744594-79765140 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

TCCCAGG to T at 79748079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107384] [ENSMUST00000125542] [ENSMUST00000134328] [ENSMUST00000164056] [ENSMUST00000206714]

AlphaFold

P54071

Predicted Effect

probably benign
Transcript: ENSMUST00000107384

SMART Domains

Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541

Domain	Start	End	E-Value	Type
Iso_dh	49	441	5.32e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134070

Predicted Effect

probably benign
Transcript: ENSMUST00000134328

SMART Domains

Protein: ENSMUSP00000118184
Gene: ENSMUSG00000030541

Domain	Start	End	E-Value	Type
Iso_dh	49	284	1.59e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156761

Predicted Effect

probably benign
Transcript: ENSMUST00000164056

SMART Domains

Protein: ENSMUSP00000132361
Gene: ENSMUSG00000048897

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC
low complexity region	106	127	N/A	INTRINSIC
low complexity region	169	181	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
ZnF_C2H2	297	319	2.71e-2	SMART
ZnF_C2H2	325	347	1.92e-2	SMART
ZnF_C2H2	353	375	2.71e-2	SMART
ZnF_C2H2	381	403	1.18e-2	SMART
ZnF_C2H2	409	431	1.67e-2	SMART
ZnF_C2H2	437	459	4.87e-4	SMART
ZnF_C2H2	465	487	3.83e-2	SMART
ZnF_C2H2	493	515	2.12e-4	SMART
ZnF_C2H2	521	543	3.63e-3	SMART
ZnF_C2H2	549	571	1.58e-3	SMART
ZnF_C2H2	577	600	3.69e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206714

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit suppression of tumorigenesis from B16F10 melanoma cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2b	T	C	11: 62,156,145 (GRCm39)	M198T	probably damaging	Het
Agbl2	A	G	2: 90,636,248 (GRCm39)	T595A	probably benign	Het
Cep89	A	T	7: 35,102,538 (GRCm39)	I84F	possibly damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Erp44	T	A	4: 48,218,187 (GRCm39)	R161*	probably null	Het
Fcsk	A	G	8: 111,616,813 (GRCm39)	W446R	probably damaging	Het
Gm12185	T	G	11: 48,799,192 (GRCm39)	S434R	possibly damaging	Het
Hmcn2	G	T	2: 31,294,875 (GRCm39)	A2555S	probably benign	Het
Ighv1-61	A	G	12: 115,322,993 (GRCm39)	S40P	possibly damaging	Het
Kif26b	C	T	1: 178,506,643 (GRCm39)	Q240*	probably null	Het
Mapkap1	C	T	2: 34,509,878 (GRCm39)	T456M	probably damaging	Het
Ncapg2	A	G	12: 116,424,228 (GRCm39)	N1137S	probably damaging	Het
Nectin4	C	G	1: 171,211,324 (GRCm39)	R283G	probably damaging	Het
Nos2	A	G	11: 78,828,457 (GRCm39)	I259V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4c119	T	C	2: 88,987,465 (GRCm39)	N18S	probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Ppargc1a	A	T	5: 51,620,139 (GRCm39)	N733K	unknown	Het
Ptpn5	A	G	7: 46,732,622 (GRCm39)	Y345H	probably damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rbm47	A	C	5: 66,183,877 (GRCm39)	M242R	possibly damaging	Het
Slc12a5	T	G	2: 164,816,896 (GRCm39)	F140V	probably damaging	Het
Slc22a2	G	T	17: 12,803,177 (GRCm39)	V4L	probably benign	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas2r105	A	T	6: 131,663,699 (GRCm39)	I243K	probably damaging	Het
Tmem126b	G	T	7: 90,118,231 (GRCm39)	Y216*	probably null	Het
Usp25	C	T	16: 76,880,682 (GRCm39)	T681I	probably benign	Het
Vmn1r206	C	T	13: 22,804,890 (GRCm39)	A106T	probably damaging	Het
Vmn1r39	A	T	6: 66,781,915 (GRCm39)	N134K	probably damaging	Het
Vmn1r9	T	C	6: 57,048,812 (GRCm39)	S296P	probably benign	Het
Zfp97	T	A	17: 17,365,243 (GRCm39)	F247L	probably damaging	Het

Other mutations in Idh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Idh2	APN	7	79,747,693 (GRCm39)	missense	probably benign
IGL02281:Idh2	APN	7	79,745,550 (GRCm39)	splice site	probably null
IGL02874:Idh2	APN	7	79,747,621 (GRCm39)	missense	probably damaging	1.00
IGL02892:Idh2	APN	7	79,745,418 (GRCm39)	missense	probably benign
IGL02937:Idh2	APN	7	79,748,661 (GRCm39)	missense	probably damaging	1.00
IGL02989:Idh2	APN	7	79,748,856 (GRCm39)	missense	probably damaging	1.00
R0040:Idh2	UTSW	7	79,747,570 (GRCm39)	missense	probably damaging	1.00
R0040:Idh2	UTSW	7	79,747,570 (GRCm39)	missense	probably damaging	1.00
R0090:Idh2	UTSW	7	79,747,662 (GRCm39)	missense	probably damaging	1.00
R0322:Idh2	UTSW	7	79,748,005 (GRCm39)	missense	probably damaging	1.00
R0384:Idh2	UTSW	7	79,748,005 (GRCm39)	missense	probably damaging	1.00
R0385:Idh2	UTSW	7	79,748,005 (GRCm39)	missense	probably damaging	1.00
R0386:Idh2	UTSW	7	79,748,005 (GRCm39)	missense	probably damaging	1.00
R0387:Idh2	UTSW	7	79,748,005 (GRCm39)	missense	probably damaging	1.00
R0494:Idh2	UTSW	7	79,748,005 (GRCm39)	missense	probably damaging	1.00
R1603:Idh2	UTSW	7	79,748,906 (GRCm39)	missense	probably damaging	1.00
R1681:Idh2	UTSW	7	79,748,906 (GRCm39)	missense	probably damaging	1.00
R1711:Idh2	UTSW	7	79,748,906 (GRCm39)	missense	probably damaging	1.00
R1844:Idh2	UTSW	7	79,748,625 (GRCm39)	missense	probably benign	0.31
R3700:Idh2	UTSW	7	79,748,895 (GRCm39)	missense	probably damaging	1.00
R4941:Idh2	UTSW	7	79,745,847 (GRCm39)	missense	probably damaging	0.98
R5234:Idh2	UTSW	7	79,745,853 (GRCm39)	missense	probably damaging	0.99
R5387:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R5582:Idh2	UTSW	7	79,748,087 (GRCm39)	frame shift	probably null
R5655:Idh2	UTSW	7	79,747,996 (GRCm39)	missense	probably damaging	0.99
R6191:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6261:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R6311:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6351:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6413:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6561:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6709:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6772:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6781:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6848:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R6861:Idh2	UTSW	7	79,747,966 (GRCm39)	missense	probably damaging	1.00
R6899:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7063:Idh2	UTSW	7	79,745,432 (GRCm39)	missense	probably damaging	1.00
R7076:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7081:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R7090:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7254:Idh2	UTSW	7	79,748,079 (GRCm39)	frame shift	probably null
R7298:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7401:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R7560:Idh2	UTSW	7	79,748,079 (GRCm39)	frame shift	probably null
R7561:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7694:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7816:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7884:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R7919:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R7961:Idh2	UTSW	7	79,748,001 (GRCm39)	missense	probably benign	0.18
R8009:Idh2	UTSW	7	79,748,001 (GRCm39)	missense	probably benign	0.18
R8036:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8162:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R8321:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8451:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8488:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R8501:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8671:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8673:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8707:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R8725:Idh2	UTSW	7	79,748,079 (GRCm39)	frame shift	probably null
R8863:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8872:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8892:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8915:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8935:Idh2	UTSW	7	79,764,946 (GRCm39)	missense	probably benign	0.00
R8951:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8954:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R8985:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9101:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9111:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9138:Idh2	UTSW	7	79,748,079 (GRCm39)	frame shift	probably null
R9138:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign
R9140:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9555:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9614:Idh2	UTSW	7	79,747,925 (GRCm39)	nonsense	probably null
R9619:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9697:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9756:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
R9790:Idh2	UTSW	7	79,748,079 (GRCm39)	intron	probably benign
RF030:Idh2	UTSW	7	79,748,077 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGGAAGCATCAGAGGTTG -3'
(R):5'- GCTTAAACAAGCCTGTACCAGC -3'

Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'

Posted On

2022-08-09