Mutagenetix > Incidental Mutation

Incidental Mutation 'R0386:Idh2'

65506

Institutional Source

Beutler Lab

Gene Symbol

Idh2

Ensembl Gene

ENSMUSG00000030541

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

Idh-2, IDPm

MMRRC Submission

038592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0386 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80094846-80115392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80098257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 232 (A232T)

Ref Sequence

ENSEMBL: ENSMUSP00000103007 (fasta)

Gene Model

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

AlphaFold

P54071

Predicted Effect

probably damaging
Transcript: ENSMUST00000107384
AA Change: A232T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541
AA Change: A232T

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

unknown
Transcript: ENSMUST00000134328
AA Change: R268H

SMART Domains

Protein: ENSMUSP00000118184
Gene: ENSMUSG00000030541
AA Change: R268H

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

Meta Mutation Damage Score

0.9207

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,896,461	V194A	probably damaging	Het
Adamts13	G	A	2: 26,986,679		probably null	Het
Ahnak	T	C	19: 9,011,144	M3264T	possibly damaging	Het
Birc6	T	A	17: 74,599,340	C1409S	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Dnah2	A	G	11: 69,447,861	V3161A	probably damaging	Het
Dnah5	A	T	15: 28,383,581	Y2983F	probably damaging	Het
Dnah6	G	A	6: 73,083,124	L2774F	probably damaging	Het
Dst	A	T	1: 34,217,836	T4398S	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
Efcab5	A	T	11: 77,172,378	M96K	probably benign	Het
Elavl4	A	G	4: 110,206,705		probably benign	Het
Flt4	G	A	11: 49,644,386	A1214T	probably benign	Het
Fn1	G	T	1: 71,595,786	T2127N	probably damaging	Het
Foxj1	A	T	11: 116,331,803	S391R	possibly damaging	Het
Gabrb1	A	T	5: 72,108,807	Y269F	probably damaging	Het
Ghitm	A	G	14: 37,125,911	S259P	possibly damaging	Het
Gm16332	A	G	1: 139,924,190		noncoding transcript	Het
Gm16380	T	A	9: 53,884,443		noncoding transcript	Het
Gm9869	A	T	9: 60,838,062		probably benign	Het
Gm9936	G	A	5: 114,857,131	Q142*	probably null	Het
Hmbs	T	C	9: 44,337,008	Y260C	probably benign	Het
Hoxc5	T	A	15: 103,015,352	C193*	probably null	Het
Lce1j	T	C	3: 92,789,388	K28E	unknown	Het
Lpgat1	C	T	1: 191,719,348		probably benign	Het
Lyst	T	C	13: 13,708,214		probably benign	Het
Megf11	A	G	9: 64,640,078	N235D	probably damaging	Het
Mst1r	T	A	9: 107,916,804		probably null	Het
Nr2c2ap	A	G	8: 70,131,587	D9G	probably benign	Het
Obscn	T	C	11: 59,136,339	T13A	probably damaging	Het
Ofcc1	A	C	13: 40,214,474	L188*	probably null	Het
Olfr1028	A	G	2: 85,951,873	E270G	probably damaging	Het
Olfr432	A	T	1: 174,050,399	T9S	probably benign	Het
Oma1	A	T	4: 103,325,201		probably benign	Het
Pcm1	T	C	8: 41,316,023	F1642S	probably damaging	Het
Pglyrp2	A	G	17: 32,420,862	M1T	probably null	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prdm10	C	A	9: 31,316,300	T67K	probably damaging	Het
Ralgapa1	A	T	12: 55,708,067	H1193Q	probably benign	Het
Sall1	A	G	8: 89,032,604	S291P	probably damaging	Het
Sdk2	T	C	11: 113,893,464	T150A	probably damaging	Het
Sel1l2	T	A	2: 140,275,441	Y170F	probably benign	Het
Sema4a	C	T	3: 88,436,800	V715I	possibly damaging	Het
Smgc	G	A	15: 91,854,638	A500T	probably benign	Het
Spef2	A	G	15: 9,584,062	V1639A	probably damaging	Het
Srrm4	A	G	5: 116,482,378		probably benign	Het
Tbc1d23	G	A	16: 57,189,273	H418Y	probably damaging	Het
Tbk1	A	G	10: 121,584,254	L10P	probably damaging	Het
Thumpd3	G	A	6: 113,065,660		probably null	Het
Trp53bp1	G	T	2: 121,204,943	T1609K	probably damaging	Het
Tut1	A	G	19: 8,955,555	N84S	probably benign	Het
Urb1	C	T	16: 90,796,399	G282R	probably damaging	Het
Usp19	A	T	9: 108,499,711	D1160V	probably damaging	Het
Usp9y	A	G	Y: 1,316,933	V1872A	probably damaging	Het
Zfp276	C	A	8: 123,259,503	Y386*	probably null	Het

Other mutations in Idh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Idh2	APN	7	80097945	missense	probably benign
IGL02281:Idh2	APN	7	80095802	splice site	probably null
IGL02874:Idh2	APN	7	80097873	missense	probably damaging	1.00
IGL02892:Idh2	APN	7	80095670	missense	probably benign
IGL02937:Idh2	APN	7	80098913	missense	probably damaging	1.00
IGL02989:Idh2	APN	7	80099108	missense	probably damaging	1.00
R0040:Idh2	UTSW	7	80097822	missense	probably damaging	1.00
R0040:Idh2	UTSW	7	80097822	missense	probably damaging	1.00
R0090:Idh2	UTSW	7	80097914	missense	probably damaging	1.00
R0322:Idh2	UTSW	7	80098257	missense	probably damaging	1.00
R0384:Idh2	UTSW	7	80098257	missense	probably damaging	1.00
R0385:Idh2	UTSW	7	80098257	missense	probably damaging	1.00
R0387:Idh2	UTSW	7	80098257	missense	probably damaging	1.00
R0494:Idh2	UTSW	7	80098257	missense	probably damaging	1.00
R1603:Idh2	UTSW	7	80099158	missense	probably damaging	1.00
R1681:Idh2	UTSW	7	80099158	missense	probably damaging	1.00
R1711:Idh2	UTSW	7	80099158	missense	probably damaging	1.00
R1844:Idh2	UTSW	7	80098877	missense	probably benign	0.31
R3700:Idh2	UTSW	7	80099147	missense	probably damaging	1.00
R4941:Idh2	UTSW	7	80096099	missense	probably damaging	0.98
R5234:Idh2	UTSW	7	80096105	missense	probably damaging	0.99
R5387:Idh2	UTSW	7	80098331	intron	probably benign
R5582:Idh2	UTSW	7	80098339	frame shift	probably null
R5655:Idh2	UTSW	7	80098248	missense	probably damaging	0.99
R6191:Idh2	UTSW	7	80098331	intron	probably benign
R6261:Idh2	UTSW	7	80098329	intron	probably benign
R6311:Idh2	UTSW	7	80098331	intron	probably benign
R6351:Idh2	UTSW	7	80098331	intron	probably benign
R6413:Idh2	UTSW	7	80098331	intron	probably benign
R6561:Idh2	UTSW	7	80098331	intron	probably benign
R6709:Idh2	UTSW	7	80098331	intron	probably benign
R6772:Idh2	UTSW	7	80098331	intron	probably benign
R6781:Idh2	UTSW	7	80098331	intron	probably benign
R6848:Idh2	UTSW	7	80098331	intron	probably benign
R6861:Idh2	UTSW	7	80098218	missense	probably damaging	1.00
R6899:Idh2	UTSW	7	80098331	intron	probably benign
R7063:Idh2	UTSW	7	80095684	missense	probably damaging	1.00
R7076:Idh2	UTSW	7	80098331	intron	probably benign
R7081:Idh2	UTSW	7	80098329	intron	probably benign
R7090:Idh2	UTSW	7	80098331	intron	probably benign
R7254:Idh2	UTSW	7	80098331	frame shift	probably null
R7298:Idh2	UTSW	7	80098331	intron	probably benign
R7401:Idh2	UTSW	7	80098329	intron	probably benign
R7560:Idh2	UTSW	7	80098331	frame shift	probably null
R7561:Idh2	UTSW	7	80098331	intron	probably benign
R7694:Idh2	UTSW	7	80098331	intron	probably benign
R7816:Idh2	UTSW	7	80098331	intron	probably benign
R7884:Idh2	UTSW	7	80098329	intron	probably benign
R7919:Idh2	UTSW	7	80098331	intron	probably benign
R7961:Idh2	UTSW	7	80098253	missense	probably benign	0.18
R8009:Idh2	UTSW	7	80098253	missense	probably benign	0.18
R8036:Idh2	UTSW	7	80098331	intron	probably benign
R8162:Idh2	UTSW	7	80098329	intron	probably benign
R8321:Idh2	UTSW	7	80098331	intron	probably benign
R8451:Idh2	UTSW	7	80098331	intron	probably benign
R8488:Idh2	UTSW	7	80098329	intron	probably benign
R8501:Idh2	UTSW	7	80098331	intron	probably benign
R8671:Idh2	UTSW	7	80098331	intron	probably benign
R8673:Idh2	UTSW	7	80098331	intron	probably benign
R8707:Idh2	UTSW	7	80098329	intron	probably benign
R8725:Idh2	UTSW	7	80098331	frame shift	probably null
R8863:Idh2	UTSW	7	80098331	intron	probably benign
R8872:Idh2	UTSW	7	80098331	intron	probably benign
R8892:Idh2	UTSW	7	80098331	intron	probably benign
R8915:Idh2	UTSW	7	80098331	intron	probably benign
R8935:Idh2	UTSW	7	80115198	missense	probably benign	0.00
R8951:Idh2	UTSW	7	80098331	intron	probably benign
R8954:Idh2	UTSW	7	80098331	intron	probably benign
R8985:Idh2	UTSW	7	80098331	intron	probably benign
R9101:Idh2	UTSW	7	80098331	intron	probably benign
R9111:Idh2	UTSW	7	80098331	intron	probably benign
R9138:Idh2	UTSW	7	80098329	intron	probably benign
R9138:Idh2	UTSW	7	80098331	frame shift	probably null
R9140:Idh2	UTSW	7	80098331	intron	probably benign
R9555:Idh2	UTSW	7	80098331	intron	probably benign
R9580:Idh2	UTSW	7	80098331	intron	probably benign
R9614:Idh2	UTSW	7	80098177	nonsense	probably null
R9619:Idh2	UTSW	7	80098331	intron	probably benign
R9697:Idh2	UTSW	7	80098331	intron	probably benign
R9756:Idh2	UTSW	7	80098331	intron	probably benign
R9790:Idh2	UTSW	7	80098331	intron	probably benign
RF030:Idh2	UTSW	7	80098329	intron	probably benign

Predicted Primers

Posted On

2013-08-08