Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01529:Idh2'

89675

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Idh2

Ensembl Gene

ENSMUSG00000030541

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

Idh-2, IDPm

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01529

Quality Score

Status

Chromosome

Chromosomal Location

79744594-79765140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79747693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 276 (T276A)

Ref Sequence

ENSEMBL: ENSMUSP00000103007 (fasta)

Gene Model

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

AlphaFold

P54071

Predicted Effect

probably benign
Transcript: ENSMUST00000107384
AA Change: T276A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541
AA Change: T276A

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 83,800,622 (GRCm39)	I144N	possibly damaging	Het
Adamts19	T	A	18: 59,096,535 (GRCm39)	H588Q	probably damaging	Het
Ankrd2	A	G	19: 42,028,349 (GRCm39)	K46E	probably damaging	Het
Arhgap10	A	C	8: 78,072,920 (GRCm39)	L513V	possibly damaging	Het
Arhgef12	C	A	9: 42,901,351 (GRCm39)	R817L	probably damaging	Het
Asxl3	T	A	18: 22,650,712 (GRCm39)	N900K	probably damaging	Het
Atp9b	A	T	18: 80,887,826 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,398,042 (GRCm39)	N773D	probably damaging	Het
Cep97	A	G	16: 55,750,981 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dolk	T	C	2: 30,175,749 (GRCm39)	T99A	probably benign	Het
Egfr	A	T	11: 16,813,014 (GRCm39)	R165W	probably benign	Het
Fat2	T	A	11: 55,172,982 (GRCm39)	D2577V	probably damaging	Het
Hsph1	T	C	5: 149,559,499 (GRCm39)	I15V	probably benign	Het
Jag1	T	C	2: 136,926,897 (GRCm39)	Y954C	probably damaging	Het
Kat2a	A	T	11: 100,602,735 (GRCm39)	W118R	probably damaging	Het
Kcnh6	G	T	11: 105,911,522 (GRCm39)	R636L	probably benign	Het
Klk1b16	G	T	7: 43,790,163 (GRCm39)	K144N	probably benign	Het
Lrrk2	T	A	15: 91,696,516 (GRCm39)	L2435I	possibly damaging	Het
Ltbp3	A	G	19: 5,797,867 (GRCm39)	D502G	probably benign	Het
Ltn1	A	T	16: 87,178,359 (GRCm39)	N1623K	probably benign	Het
Mcm10	C	A	2: 5,013,439 (GRCm39)	E64D	probably benign	Het
Med13l	A	G	5: 118,880,400 (GRCm39)	N1164S	probably damaging	Het
Myo1a	A	G	10: 127,556,529 (GRCm39)	N1025D	probably benign	Het
Or2m12	A	T	16: 19,105,450 (GRCm39)	D14E	probably benign	Het
Or8g27	C	T	9: 39,129,427 (GRCm39)	T258I	probably benign	Het
Pdcd11	A	G	19: 47,098,068 (GRCm39)	N785D	probably benign	Het
Psmd8	A	T	7: 28,878,576 (GRCm39)	I81N	probably damaging	Het
Rigi	G	A	4: 40,225,685 (GRCm39)	H194Y	probably benign	Het
Ryr1	C	T	7: 28,774,652 (GRCm39)	G2330R	probably damaging	Het
Scrib	T	C	15: 75,921,084 (GRCm39)	T80A	possibly damaging	Het
Sergef	A	T	7: 46,092,942 (GRCm39)	W356R	probably damaging	Het
Slc22a19	T	C	19: 7,660,300 (GRCm39)	N370S	probably damaging	Het
Syde1	A	G	10: 78,426,015 (GRCm39)	S51P	probably benign	Het
Umodl1	A	T	17: 31,215,233 (GRCm39)	D1019V	possibly damaging	Het
Vmn2r45	A	G	7: 8,486,493 (GRCm39)	M265T	probably benign	Het

Other mutations in Idh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-03