Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Idh2'

604314

Institutional Source

Beutler Lab

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 #

RF030 (G1)

Quality Score

104.467

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: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,425,226		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,235		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,560,913		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,560,927		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 20,943,900		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,386,848		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,141,253		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,502,722		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,500,869		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,409		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,767,182		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 156,045,529		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gab3	CTTTT	CT	X: 74,999,977		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,005		probably benign	Het
Gab3	TCT	TCTCCT	X: 75,000,008		probably benign	Het
Gab3	TTC	TTCGTC	X: 75,000,025		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,026		probably benign	Het
Gm35339	AGGAGGAGG	AG	15: 76,363,165		probably null	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,427,156		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,408,641		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,459,034		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,586,377		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 93,018,141		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 93,018,344		probably benign	Het
Lrmp	ATTG	ATTGAGCACGTTG	6: 145,173,788		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Mamld1	CAG	CAGTAG	X: 71,118,828		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,306,311		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,306,317		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,989		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,076,111		probably null	Het
Pdik1l	C	CCACCAA	4: 134,279,516		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,558,502		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,858,480		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,301		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,785,311		probably benign	Het
Six5	CGGA	C	7: 19,094,800		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,833,568		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,833,574		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,835,723		probably benign	Het
Tfeb	AGC	AGCCGC	17: 47,786,111		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,113		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Thegl	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,016,401		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,801,325		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,560,067		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GAAGCATCAGAGGTTGTTACTTG -3'
(R):5'- GCTTAAACAAGCCTGTACCAGC -3'

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

Posted On

2019-12-04