Mutagenetix > Incidental Mutation

Incidental Mutation 'R1711:Idh2'

190554

Institutional Source

Beutler Lab

Gene Symbol

Idh2

Ensembl Gene

ENSMUSG00000030541

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

Idh-2, IDPm

MMRRC Submission

039744-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80094846-80115392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80099158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 125 (E125A)

Ref Sequence

ENSEMBL: ENSMUSP00000118184 (fasta)

Gene Model

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

AlphaFold

P54071

Predicted Effect

probably damaging
Transcript: ENSMUST00000107384
AA Change: E125A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541
AA Change: E125A

Domain	Start	End	E-Value	Type
Iso_dh	49	441	5.32e-135	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125542
AA Change: E47A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134070

Predicted Effect

probably damaging
Transcript: ENSMUST00000134328
AA Change: E125A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118184
Gene: ENSMUSG00000030541
AA Change: E125A

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

Meta Mutation Damage Score

0.7794

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920 (GRCm38)	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573 (GRCm38)	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165 (GRCm38)	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624 (GRCm38)	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974 (GRCm38)		probably null	Het
Ap3s2	A	T	7: 79,880,490 (GRCm38)	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979 (GRCm38)		probably null	Het
Arhgap5	A	G	12: 52,519,345 (GRCm38)	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947 (GRCm38)	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865 (GRCm38)	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486 (GRCm38)	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056 (GRCm38)	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978 (GRCm38)	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609 (GRCm38)	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342 (GRCm38)	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536 (GRCm38)	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020 (GRCm38)	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,474,286 (GRCm38)	V281L	probably benign	Het
Clu	G	T	14: 65,980,905 (GRCm38)	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213 (GRCm38)	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374 (GRCm38)		probably null	Het
Ctr9	T	C	7: 111,055,663 (GRCm38)	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810 (GRCm38)	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891 (GRCm38)	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712 (GRCm38)	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610 (GRCm38)	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497 (GRCm38)	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571 (GRCm38)	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926 (GRCm38)	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693 (GRCm38)	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831 (GRCm38)	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915 (GRCm38)	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308 (GRCm38)		probably benign	Het
Ercc6	T	C	14: 32,526,176 (GRCm38)	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247 (GRCm38)	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414 (GRCm38)	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479 (GRCm38)	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460 (GRCm38)	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688 (GRCm38)	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406 (GRCm38)	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026 (GRCm38)	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952 (GRCm38)		probably null	Het
Gucy1a2	G	T	9: 3,759,622 (GRCm38)	R476I	probably benign	Het
Hars	A	G	18: 36,771,103 (GRCm38)	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903 (GRCm38)	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246 (GRCm38)	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592 (GRCm38)	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525 (GRCm38)	T490K	probably damaging	Het
Ipo13	G	T	4: 117,904,522 (GRCm38)	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619 (GRCm38)	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461 (GRCm38)	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157 (GRCm38)	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569 (GRCm38)	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621 (GRCm38)	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058 (GRCm38)	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276 (GRCm38)	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352 (GRCm38)	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422 (GRCm38)	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735 (GRCm38)		probably null	Het
Mylk3	T	A	8: 85,364,831 (GRCm38)	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754 (GRCm38)	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336 (GRCm38)	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306 (GRCm38)	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999 (GRCm38)	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162 (GRCm38)	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699 (GRCm38)	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760 (GRCm38)	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285 (GRCm38)	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218 (GRCm38)	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852 (GRCm38)	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327 (GRCm38)	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518 (GRCm38)	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794 (GRCm38)	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511 (GRCm38)	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409 (GRCm38)	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714 (GRCm38)		probably null	Het
Pik3c2a	A	T	7: 116,417,927 (GRCm38)	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310 (GRCm38)	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492 (GRCm38)	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406 (GRCm38)	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699 (GRCm38)	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519 (GRCm38)	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981 (GRCm38)	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101 (GRCm38)	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293 (GRCm38)	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289 (GRCm38)	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748 (GRCm38)	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709 (GRCm38)	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096 (GRCm38)	Y61F	probably benign	Het
Son	A	G	16: 91,660,226 (GRCm38)		probably benign	Het
Sparc	T	A	11: 55,395,776 (GRCm38)		probably null	Het
Spon2	A	G	5: 33,216,385 (GRCm38)	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042 (GRCm38)	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925 (GRCm38)	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304 (GRCm38)	S958R	probably benign	Het
Stom	T	A	2: 35,315,917 (GRCm38)	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477 (GRCm38)	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926 (GRCm38)	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658 (GRCm38)	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837 (GRCm38)	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585 (GRCm38)	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744 (GRCm38)	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561 (GRCm38)	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720 (GRCm38)	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097 (GRCm38)	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037 (GRCm38)	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128 (GRCm38)	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684 (GRCm38)	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148 (GRCm38)	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673 (GRCm38)	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889 (GRCm38)	M191V	probably benign	Het

Other mutations in Idh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Idh2	APN	7	80,097,945 (GRCm38)	missense	probably benign
IGL02281:Idh2	APN	7	80,095,802 (GRCm38)	splice site	probably null
IGL02874:Idh2	APN	7	80,097,873 (GRCm38)	missense	probably damaging	1.00
IGL02892:Idh2	APN	7	80,095,670 (GRCm38)	missense	probably benign
IGL02937:Idh2	APN	7	80,098,913 (GRCm38)	missense	probably damaging	1.00
IGL02989:Idh2	APN	7	80,099,108 (GRCm38)	missense	probably damaging	1.00
R0040:Idh2	UTSW	7	80,097,822 (GRCm38)	missense	probably damaging	1.00
R0040:Idh2	UTSW	7	80,097,822 (GRCm38)	missense	probably damaging	1.00
R0090:Idh2	UTSW	7	80,097,914 (GRCm38)	missense	probably damaging	1.00
R0322:Idh2	UTSW	7	80,098,257 (GRCm38)	missense	probably damaging	1.00
R0384:Idh2	UTSW	7	80,098,257 (GRCm38)	missense	probably damaging	1.00
R0385:Idh2	UTSW	7	80,098,257 (GRCm38)	missense	probably damaging	1.00
R0386:Idh2	UTSW	7	80,098,257 (GRCm38)	missense	probably damaging	1.00
R0387:Idh2	UTSW	7	80,098,257 (GRCm38)	missense	probably damaging	1.00
R0494:Idh2	UTSW	7	80,098,257 (GRCm38)	missense	probably damaging	1.00
R1603:Idh2	UTSW	7	80,099,158 (GRCm38)	missense	probably damaging	1.00
R1681:Idh2	UTSW	7	80,099,158 (GRCm38)	missense	probably damaging	1.00
R1844:Idh2	UTSW	7	80,098,877 (GRCm38)	missense	probably benign	0.31
R3700:Idh2	UTSW	7	80,099,147 (GRCm38)	missense	probably damaging	1.00
R4941:Idh2	UTSW	7	80,096,099 (GRCm38)	missense	probably damaging	0.98
R5234:Idh2	UTSW	7	80,096,105 (GRCm38)	missense	probably damaging	0.99
R5387:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R5582:Idh2	UTSW	7	80,098,339 (GRCm38)	frame shift	probably null
R5655:Idh2	UTSW	7	80,098,248 (GRCm38)	missense	probably damaging	0.99
R6191:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6261:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R6311:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6351:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6413:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6561:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6709:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6772:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6781:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6848:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R6861:Idh2	UTSW	7	80,098,218 (GRCm38)	missense	probably damaging	1.00
R6899:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7063:Idh2	UTSW	7	80,095,684 (GRCm38)	missense	probably damaging	1.00
R7076:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7081:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R7090:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7254:Idh2	UTSW	7	80,098,331 (GRCm38)	frame shift	probably null
R7298:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7401:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R7560:Idh2	UTSW	7	80,098,331 (GRCm38)	frame shift	probably null
R7561:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7694:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7816:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7884:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R7919:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R7961:Idh2	UTSW	7	80,098,253 (GRCm38)	missense	probably benign	0.18
R8009:Idh2	UTSW	7	80,098,253 (GRCm38)	missense	probably benign	0.18
R8036:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8162:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R8321:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8451:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8488:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R8501:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8671:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8673:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8707:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R8725:Idh2	UTSW	7	80,098,331 (GRCm38)	frame shift	probably null
R8863:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8872:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8892:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8915:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8935:Idh2	UTSW	7	80,115,198 (GRCm38)	missense	probably benign	0.00
R8951:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8954:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R8985:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9101:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9111:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9138:Idh2	UTSW	7	80,098,331 (GRCm38)	frame shift	probably null
R9138:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign
R9140:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9555:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9580:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9614:Idh2	UTSW	7	80,098,177 (GRCm38)	nonsense	probably null
R9619:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9697:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9756:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
R9790:Idh2	UTSW	7	80,098,331 (GRCm38)	intron	probably benign
RF030:Idh2	UTSW	7	80,098,329 (GRCm38)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCAGTTCAAGCCAAGGCTTC -3'
(R):5'- CACAGTCAGAGATGCAAGGTTCCAG -3'

Sequencing Primer
(F):5'- TCAAGCCAAGGCTTCCTGTG -3'
(R):5'- tcctactgccgagaccc -3'

Posted On

2014-05-14