Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Idh2'

574168

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 #

R7401 (G1)

Quality Score

107.467

Status

Not validated

Chromosome

Chromosomal Location

80094846-80115392 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

GGTCCCAG to GG at 80098329 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: 100.0%
3x: 100.0%
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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	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
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
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

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

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

Posted On

2019-09-13