Mutagenetix > Incidental Mutation

Incidental Mutation 'R6772:Idh2'

543637

Institutional Source

Beutler Lab

Gene Symbol

Idh2

Ensembl Gene

ENSMUSG00000030541

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

Idh-2, IDPm

MMRRC Submission

044888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6772 (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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

97% (36/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,126,276 (GRCm39)	D1144V	probably damaging	Het
Ankrd13a	A	G	5: 114,939,804 (GRCm39)	H477R	probably benign	Het
Anxa3	A	T	5: 96,958,972 (GRCm39)	I27F	probably damaging	Het
Aplf	T	C	6: 87,640,781 (GRCm39)	E76G	possibly damaging	Het
Bbs1	A	G	19: 4,956,618 (GRCm39)		probably benign	Het
Camk2a	T	C	18: 61,102,092 (GRCm39)	S332P	probably benign	Het
Casz1	T	A	4: 149,027,663 (GRCm39)	F1013L	probably damaging	Het
Cd109	A	T	9: 78,588,092 (GRCm39)	I707F	possibly damaging	Het
Cd4	G	A	6: 124,849,421 (GRCm39)	T202I	probably benign	Het
Celsr1	A	G	15: 85,914,983 (GRCm39)	S997P	probably benign	Het
Cfap77	T	C	2: 28,944,951 (GRCm39)	T24A	probably damaging	Het
Dscaml1	G	A	9: 45,621,609 (GRCm39)	R1019H	probably damaging	Het
Epb41l4b	C	A	4: 57,063,140 (GRCm39)	V517F	probably benign	Het
Exosc10	G	A	4: 148,665,591 (GRCm39)	D818N	probably damaging	Het
Furin	C	T	7: 80,043,240 (GRCm39)	G324S	probably damaging	Het
Ifi206	T	C	1: 173,308,773 (GRCm39)	M408V	unknown	Het
Kdm4a	T	C	4: 117,999,752 (GRCm39)		probably null	Het
Neo1	T	A	9: 58,810,259 (GRCm39)	Q1064L	probably damaging	Het
Nphp4	G	A	4: 152,628,863 (GRCm39)	V750I	probably benign	Het
Pcdhac1	T	C	18: 37,223,289 (GRCm39)	V34A	probably benign	Het
Pdk4	T	C	6: 5,487,141 (GRCm39)	I302V	probably benign	Het
Prl6a1	A	G	13: 27,503,031 (GRCm39)	D209G	probably damaging	Het
Pspn	T	C	17: 57,306,515 (GRCm39)	Q138R	probably benign	Het
Ptgs2	A	G	1: 149,977,829 (GRCm39)	Y134C	probably damaging	Het
Rlbp1	G	A	7: 79,033,798 (GRCm39)		probably benign	Het
Rpia	T	C	6: 70,762,532 (GRCm39)	I108V	probably benign	Het
Tcaf1	A	T	6: 42,652,210 (GRCm39)	H757Q	probably damaging	Het
Ttc8	A	C	12: 98,909,848 (GRCm39)	S143R	probably damaging	Het
Uba6	A	G	5: 86,294,932 (GRCm39)		probably benign	Het
Ubr4	A	T	4: 139,194,541 (GRCm39)	K4280*	probably null	Het
Vmn2r15	C	A	5: 109,434,238 (GRCm39)	S822I	probably damaging	Het
Vps53	A	T	11: 76,070,324 (GRCm39)	M1K	probably null	Het
Zfp362	A	G	4: 128,684,053 (GRCm39)	M18T	possibly damaging	Het
Zfp429	A	G	13: 67,538,317 (GRCm39)	C376R	probably damaging	Het
Zfyve9	T	C	4: 108,496,466 (GRCm39)	N1395S	probably damaging	Het
Zmynd8	T	A	2: 165,649,521 (GRCm39)	Q857H	probably benign	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
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

2019-04-12