Incidental Mutation 'R7081:Idh2'
ID 549530
Institutional Source Beutler Lab
Gene Symbol Idh2
Ensembl Gene ENSMUSG00000030541
Gene Name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms Idh-2, IDPm
MMRRC Submission 045175-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7081 (G1)
Quality Score 115.467
Status Not validated
Chromosome 7
Chromosomal Location 79744594-79765140 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) GGTCCCAG to GG at 79748077 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.8%
  • 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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,361,951 (GRCm39) H337L possibly damaging Het
Abcb4 T A 5: 8,984,263 (GRCm39) N664K probably benign Het
Adh7 A G 3: 137,934,606 (GRCm39) D343G probably benign Het
Als2cl G A 9: 110,723,650 (GRCm39) R682Q possibly damaging Het
Angptl6 A C 9: 20,786,644 (GRCm39) I334R probably damaging Het
Ankrd45 A G 1: 160,978,863 (GRCm39) N101D probably benign Het
Arhgef10 C T 8: 15,047,547 (GRCm39) Q1137* probably null Het
Asap3 T A 4: 135,968,881 (GRCm39) probably null Het
Bmp2k T C 5: 97,212,820 (GRCm39) S568P unknown Het
C4b A C 17: 34,954,417 (GRCm39) F917L probably benign Het
Cacna1e A T 1: 154,576,129 (GRCm39) V168E possibly damaging Het
Ccdc60 T A 5: 116,264,146 (GRCm39) I543F probably benign Het
Cd36 T C 5: 18,019,702 (GRCm39) D133G probably damaging Het
Chd4 T C 6: 125,106,948 (GRCm39) V1911A unknown Het
Cplx4 A T 18: 66,100,538 (GRCm39) probably null Het
Cyp1a2 A T 9: 57,586,272 (GRCm39) D415E possibly damaging Het
Cyp3a57 T C 5: 145,318,183 (GRCm39) I388T probably damaging Het
Dnajc5b T C 3: 19,601,025 (GRCm39) probably null Het
Dock4 A T 12: 40,671,285 (GRCm39) I35F probably damaging Het
Efna4 A T 3: 89,241,601 (GRCm39) L206Q unknown Het
Eif2a T C 3: 58,449,139 (GRCm39) probably null Het
Fam120a A G 13: 49,063,801 (GRCm39) F612L probably damaging Het
Fbxw21 A G 9: 108,990,990 (GRCm39) L23P probably damaging Het
Fcamr A T 1: 130,740,949 (GRCm39) E456V probably damaging Het
Fkbp8 G A 8: 70,983,644 (GRCm39) R106H probably benign Het
Galr2 T A 11: 116,173,874 (GRCm39) L168Q probably damaging Het
Gm11111 C T 5: 98,701,399 (GRCm39) S22L unknown Het
Gnpat T C 8: 125,590,008 (GRCm39) F11S possibly damaging Het
H2-T24 A T 17: 36,328,344 (GRCm39) D46E probably damaging Het
Ifna12 T C 4: 88,521,440 (GRCm39) R36G probably damaging Het
Kcnma1 G A 14: 23,350,086 (GRCm39) P1151L probably damaging Het
Kif5c T A 2: 49,631,373 (GRCm39) D683E probably benign Het
Krit1 T C 5: 3,873,651 (GRCm39) Y477H possibly damaging Het
Lipm T A 19: 34,098,723 (GRCm39) V399D possibly damaging Het
Lrguk A T 6: 34,079,074 (GRCm39) T770S probably benign Het
Lrrc37a T C 11: 103,348,781 (GRCm39) N2638S unknown Het
Lrrc40 T C 3: 157,742,442 (GRCm39) V27A probably damaging Het
Map4k1 T C 7: 28,690,574 (GRCm39) V355A probably benign Het
Mylk3 T C 8: 86,091,422 (GRCm39) I128V probably benign Het
Myo1c A G 11: 75,551,789 (GRCm39) D289G probably benign Het
Mypn A G 10: 62,970,737 (GRCm39) F889S probably damaging Het
Ndufv3 C T 17: 31,746,407 (GRCm39) P99L possibly damaging Het
Nlrp10 A C 7: 108,523,855 (GRCm39) S542A probably benign Het
Noc2l T A 4: 156,331,477 (GRCm39) D718E possibly damaging Het
Ntng1 T A 3: 109,759,105 (GRCm39) I355F probably benign Het
Nup210 A G 6: 91,037,647 (GRCm39) V742A possibly damaging Het
Nup50l A G 6: 96,142,798 (GRCm39) V82A possibly damaging Het
Olig2 T A 16: 91,023,307 (GRCm39) L7Q probably damaging Het
Or51f23b A T 7: 102,402,395 (GRCm39) I247N probably benign Het
Or8u10 A T 2: 85,915,939 (GRCm39) F61I probably damaging Het
Parpbp A T 10: 87,929,517 (GRCm39) W444R probably damaging Het
Plekhg3 A G 12: 76,625,019 (GRCm39) E1287G probably benign Het
Pramel16 T C 4: 143,675,848 (GRCm39) D326G probably damaging Het
Pramel56 T A 5: 95,022,641 (GRCm39) N107K possibly damaging Het
Prrc2b A T 2: 32,103,075 (GRCm39) Q851L probably benign Het
Psg21 C T 7: 18,388,774 (GRCm39) W106* probably null Het
Rab18 T G 18: 6,778,529 (GRCm39) D53E probably benign Het
Rbm19 T A 5: 120,261,216 (GRCm39) probably null Het
Rhobtb1 T C 10: 69,102,127 (GRCm39) V136A probably benign Het
Rsph4a G A 10: 33,785,189 (GRCm39) V367I probably damaging Het
Sec24b T C 3: 129,781,391 (GRCm39) N1161S probably benign Het
Sgcd C A 11: 47,016,428 (GRCm39) G145* probably null Het
Sin3a A G 9: 57,001,755 (GRCm39) K134R probably null Het
Slc9b2 A G 3: 135,027,698 (GRCm39) E108G probably benign Het
Stk24 A T 14: 121,531,706 (GRCm39) S317T probably benign Het
Stra8 T A 6: 34,911,302 (GRCm39) probably null Het
Tmem131 A G 1: 36,928,376 (GRCm39) V71A possibly damaging Het
Tmem87a T C 2: 120,211,264 (GRCm39) D227G possibly damaging Het
Vnn1 T A 10: 23,770,903 (GRCm39) L44M possibly damaging Het
Wdr20 G A 12: 110,769,884 (GRCm39) V160I possibly damaging Het
Zfand4 T A 6: 116,292,581 (GRCm39) N667K possibly damaging Het
Zfp1005 A G 2: 150,110,189 (GRCm39) H293R possibly damaging Het
Zfp609 A G 9: 65,609,723 (GRCm39) V1080A possibly damaging Het
Zhx1 C T 15: 57,917,734 (GRCm39) V171I probably benign Het
Other mutations in Idh2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCATCAGAGGTTGTTACTTGTC -3'
(R):5'- AGTAGGCGGCTTAAACAAGC -3'

Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
Posted On 2019-05-15