Mutagenetix > Incidental Mutation

Incidental Mutation 'R6561:Idh2'

543545

Institutional Source

Beutler Lab

Gene Symbol

Idh2

Ensembl Gene

ENSMUSG00000030541

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

Idh-2, IDPm

MMRRC Submission

044685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6561 (G1)

Quality Score

217.468

Status

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: 99.2%
20x: 96.9%

Validation Efficiency

97% (30/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,977,825 (GRCm39)	I468F	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Anapc1	A	G	2: 128,505,919 (GRCm39)	V639A	probably damaging	Het
Cdh12	A	G	15: 21,492,680 (GRCm39)	Y233C	probably damaging	Het
Dchs2	G	T	3: 83,036,476 (GRCm39)	V408F	probably benign	Het
Dnmt3c	T	A	2: 153,561,950 (GRCm39)	L551Q	probably damaging	Het
Dock2	A	G	11: 34,578,365 (GRCm39)	F746S	probably damaging	Het
Fastkd3	C	T	13: 68,732,149 (GRCm39)	R157C	possibly damaging	Het
Ier3ip1	T	A	18: 77,027,344 (GRCm39)	S58T	probably damaging	Het
Itpr2	A	G	6: 146,135,504 (GRCm39)	V1809A	probably damaging	Het
Kif22	T	A	7: 126,630,225 (GRCm39)	N437I	probably benign	Het
Klri1	A	G	6: 129,693,964 (GRCm39)	V41A	probably benign	Het
Lrrc14	T	A	15: 76,597,646 (GRCm39)	D125E	possibly damaging	Het
Nek10	A	T	14: 14,828,448 (GRCm38)	N90I	possibly damaging	Het
Nostrin	G	A	2: 69,011,201 (GRCm39)	A331T	probably benign	Het
Or4k2	T	C	14: 50,423,775 (GRCm39)	K300E	probably damaging	Het
Or5b109	A	G	19: 13,212,394 (GRCm39)	Y260C	probably damaging	Het
Or8b12i	T	C	9: 20,082,073 (GRCm39)	T265A	probably benign	Het
Plxna1	A	G	6: 89,333,960 (GRCm39)	V223A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Skic3	T	A	13: 76,298,638 (GRCm39)	S1115T	probably damaging	Het
Smg1	A	T	7: 117,765,300 (GRCm39)		probably benign	Het
Sorbs1	A	G	19: 40,314,496 (GRCm39)	I772T	probably benign	Het
Sptbn2	A	G	19: 4,797,954 (GRCm39)	N1927S	probably benign	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Trbv15	A	T	6: 41,118,414 (GRCm39)	T57S	probably benign	Het
Vmn1r78	A	T	7: 11,886,826 (GRCm39)	I146F	probably damaging	Het
Vmn2r39	T	A	7: 9,018,092 (GRCm39)	Y748F	probably damaging	Het
Zfp493	T	A	13: 67,934,338 (GRCm39)	V65D	possibly 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
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
R9580: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'- AAACAAGCCTGTACCAGCTATAAGG -3'

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

Posted On

2019-02-27