Mutagenetix > Incidental Mutations

Incidental Mutation 'R5387:Idh2'

425333

Institutional Source

Beutler Lab

Gene Symbol

Idh2

Ensembl Gene

ENSMUSG00000030541

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

Idh-2, IDPm

MMRRC Submission

042959-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5387 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

80094846-80115392 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

TCCCAGG to T at 80098331 bp (GRCm38)

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,974	D32E	probably benign	Het
2210408I21Rik	T	A	13: 77,259,973	S140T	probably benign	Het
Ahnak	T	C	19: 9,003,691	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,634,644	H1205N	probably damaging	Het
Ano1	T	C	7: 144,648,619	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573	C114W	probably damaging	Het
Ascl1	C	T	10: 87,492,689	A134T	probably damaging	Het
Atl2	C	T	17: 79,852,800	E453K	probably benign	Het
Aup1	C	T	6: 83,055,024	A84V	probably damaging	Het
Btbd7	A	T	12: 102,837,785	M332K	probably damaging	Het
Cacna1d	A	G	14: 30,100,751	V1107A	probably damaging	Het
Cd33	G	A	7: 43,532,053	Q114*	probably null	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Defb22	C	A	2: 152,485,906	A120S	unknown	Het
Dnah7b	A	G	1: 46,188,659	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,134,842	I549T	possibly damaging	Het
Esp15	T	A	17: 39,644,577		probably null	Het
Fbxo7	A	G	10: 86,024,654	T42A	probably benign	Het
Filip1	A	G	9: 79,818,274	I1021T	probably benign	Het
Gad1	C	A	2: 70,563,851	S7*	probably null	Het
Gm281	C	A	14: 13,914,438	M1I	probably null	Het
H2-Q7	C	T	17: 35,439,542	T52M	probably damaging	Het
H2-T3	C	T	17: 36,186,702	G28R	probably benign	Het
Hist1h2ad	T	A	13: 23,574,667		probably null	Het
Ift81	A	G	5: 122,555,535	Y604H	probably damaging	Het
Igsf11	A	G	16: 39,022,423	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,914,876	A846S	probably benign	Het
Lnx2	G	A	5: 147,028,154	P420S	probably benign	Het
Lrit2	A	G	14: 37,072,259	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,499,671		probably null	Het
Mug1	T	C	6: 121,884,394	Y1325H	probably damaging	Het
Naglu	A	T	11: 101,076,724	Y500F	probably damaging	Het
Npy4r	A	G	14: 34,146,983	M116T	probably benign	Het
Nrd1	A	G	4: 109,039,762	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,762,813	S472P	probably benign	Het
Olfr102	T	A	17: 37,314,292	T31S	probably benign	Het
Olfr361	T	C	2: 37,085,719	T10A	possibly damaging	Het
Otogl	T	A	10: 107,780,933	T1828S	probably benign	Het
Pank2	C	T	2: 131,274,262	T200I	probably benign	Het
Pbrm1	A	G	14: 31,082,610	Y946C	probably damaging	Het
Pde12	A	T	14: 26,666,453	S437T	probably benign	Het
Pikfyve	A	G	1: 65,265,268	K1710E	possibly damaging	Het
Plcd3	A	G	11: 103,078,455	S229P	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 105,040,177	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,485,434	S620P	probably damaging	Het
Rab33b	A	G	3: 51,493,455	T117A	probably damaging	Het
Rasal2	T	C	1: 157,157,765	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,956,413	T773A	possibly damaging	Het
Rrnad1	A	T	3: 87,930,011		probably benign	Het
Rspry1	A	G	8: 94,638,286	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,882,545		probably benign	Het
Setx	C	T	2: 29,147,594	R1364C	probably benign	Het
Shtn1	G	T	19: 59,038,369	L97M	probably damaging	Het
Slc35f1	T	C	10: 53,108,164	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,643,909		probably benign	Het
Slmap	T	C	14: 26,459,933	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096	A924V	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Tecta	G	A	9: 42,375,063	L766F	probably damaging	Het
Tle3	C	T	9: 61,407,489		probably null	Het
Top3a	A	G	11: 60,762,490	F53L	probably damaging	Het
Trem1	T	C	17: 48,241,513	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,446,963	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 90,006,596	Y975C	probably benign	Het
Ubxn11	C	A	4: 134,123,426	D196E	probably damaging	Het
Unc80	A	G	1: 66,530,021	H945R	possibly damaging	Het
Usp15	A	G	10: 123,131,286	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339	E138K	probably damaging	Het
Wapl	A	G	14: 34,677,295	E107G	probably benign	Het
Wbp1l	T	C	19: 46,644,457		probably null	Het
Zfp184	T	G	13: 21,949,640		probably benign	Het
Zfp36	A	C	7: 28,377,868	L205R	possibly damaging	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
R0386: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
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
RF030:Idh2	UTSW	7	80098329	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATCAGAGGTTGTTACTTGTC -3'
(R):5'- AGTAGGCGGCTTAAACAAGC -3'

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

Posted On

2016-08-04