Incidental Mutation 'R9619:Idh2'
ID 726590
Institutional Source Beutler Lab
Gene Symbol Idh2
Ensembl Gene ENSMUSG00000030541
Gene Name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms Idh-2, IDPm
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9619 (G1)
Quality Score 217.468
Status Not validated
Chromosome 7
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] [ENSMUST00000206714] [ENSMUST00000164056]
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: ENSMUST00000206714
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,101,566 (GRCm39) L1033P probably damaging Het
Agrn A G 4: 156,258,490 (GRCm39) I992T probably benign Het
Akap9 A T 5: 4,094,833 (GRCm39) E2209V probably damaging Het
Arfip1 C T 3: 84,435,081 (GRCm39) G76E probably benign Het
Arsk T C 13: 76,223,151 (GRCm39) T149A probably damaging Het
Caap1 A G 4: 94,444,718 (GRCm39) V75A possibly damaging Het
Cenpf A G 1: 189,385,965 (GRCm39) V2105A probably benign Het
Cep152 A G 2: 125,436,827 (GRCm39) F571S probably benign Het
Crx A T 7: 15,602,185 (GRCm39) D164E probably benign Het
Csgalnact1 A G 8: 68,854,006 (GRCm39) V265A probably damaging Het
Dchs1 C T 7: 105,413,662 (GRCm39) R1051Q probably benign Het
Dld A T 12: 31,382,390 (GRCm39) L471* probably null Het
Dmrtb1 G T 4: 107,540,847 (GRCm39) H171Q probably benign Het
Dnajc12 G A 10: 63,233,075 (GRCm39) R72Q probably damaging Het
Dpf1 A G 7: 29,012,618 (GRCm39) H237R probably benign Het
Dsg1c T A 18: 20,416,499 (GRCm39) L800Q probably damaging Het
Dyrk2 A T 10: 118,696,292 (GRCm39) L322Q probably damaging Het
Ect2 A G 3: 27,201,026 (GRCm39) V149A probably benign Het
Efhc1 G A 1: 21,037,603 (GRCm39) R260H probably benign Het
Emp2 G T 16: 10,102,420 (GRCm39) Q131K probably benign Het
Ephb6 T C 6: 41,594,249 (GRCm39) I593T possibly damaging Het
Fbln5 A C 12: 101,723,552 (GRCm39) I383S probably damaging Het
Foxq1 A T 13: 31,743,580 (GRCm39) E227D probably benign Het
Gm8237 A T 14: 5,863,637 (GRCm38) N9K probably damaging Het
Ifi44 T C 3: 151,451,509 (GRCm39) N199S probably damaging Het
Ifna16 T G 4: 88,594,762 (GRCm39) D111A probably benign Het
Igdcc3 A G 9: 65,092,552 (GRCm39) D793G probably benign Het
Igfbp5 A G 1: 72,901,543 (GRCm39) V270A probably benign Het
Kif20b A C 19: 34,933,429 (GRCm39) D1345A probably damaging Het
Klhl9 T C 4: 88,639,062 (GRCm39) H393R probably benign Het
Lad1 G T 1: 135,755,521 (GRCm39) A266S possibly damaging Het
Lama2 A G 10: 27,064,282 (GRCm39) L1233P probably damaging Het
Limch1 T C 5: 67,015,284 (GRCm39) I52T probably damaging Het
Loxhd1 T C 18: 77,443,871 (GRCm39) F599L probably benign Het
Mfn1 A G 3: 32,628,478 (GRCm39) D703G possibly damaging Het
Nexmif C T X: 103,129,841 (GRCm39) R692H possibly damaging Het
Ogfod2 G A 5: 124,252,470 (GRCm39) G183D probably damaging Het
Or2z8 T C 8: 72,811,605 (GRCm39) L27S probably damaging Het
Or5aq1b T A 2: 86,902,140 (GRCm39) I113F possibly damaging Het
Pcgf6 T C 19: 47,037,261 (GRCm39) T182A possibly damaging Het
Pcnx4 T A 12: 72,622,282 (GRCm39) C1084S possibly damaging Het
Peg10 A G 6: 4,755,316 (GRCm39) N366D probably benign Het
Prr16 T A 18: 51,435,797 (GRCm39) I92K possibly damaging Het
Rbm39 A T 2: 156,001,117 (GRCm39) N312K probably damaging Het
Rps10 G A 17: 27,849,459 (GRCm39) R160C probably benign Het
Scrg1 G T 8: 57,927,363 (GRCm39) V5L unknown Het
Slc39a4 T A 15: 76,497,874 (GRCm39) H408L probably damaging Het
Slco1a5 T C 6: 142,198,846 (GRCm39) E273G probably benign Het
Syne1 A C 10: 5,090,909 (GRCm39) V815G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Treml1 T A 17: 48,672,006 (GRCm39) F167I probably benign Het
Trpv2 T C 11: 62,480,562 (GRCm39) V333A probably damaging Het
Ubqln3 A G 7: 103,791,053 (GRCm39) F346L probably benign Het
Vmn2r15 T A 5: 109,440,622 (GRCm39) Y412F possibly damaging Het
Vmn2r61 A G 7: 41,926,136 (GRCm39) N547S probably damaging Het
Vopp1 G A 6: 57,731,617 (GRCm39) P125S probably benign Het
Wwc1 A G 11: 35,766,779 (GRCm39) F492S probably damaging Het
Zfp114 A G 7: 23,880,077 (GRCm39) E142G probably benign Het
Zfp715 A C 7: 42,949,104 (GRCm39) Y285* probably null Het
Zwilch A G 9: 64,057,440 (GRCm39) V442A 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
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
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'- AGGAAGCATCAGAGGTTGTTAC -3'
(R):5'- GCTTAAACAAGCCTGTACCAGC -3'

Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
Posted On 2022-10-06