Incidental Mutation 'R6848:Idh2'
ID 574612
Institutional Source Beutler Lab
Gene Symbol Idh2
Ensembl Gene ENSMUSG00000030541
Gene Name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms Idh-2, IDPm
MMRRC Submission 045022-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6848 (G1)
Quality Score 217.468
Status 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: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,775,487 (GRCm39) N290S probably damaging Het
Acox3 G T 5: 35,749,528 (GRCm39) G218C probably damaging Het
Acsf3 G A 8: 123,517,329 (GRCm39) G375D probably damaging Het
Adamts9 G T 6: 92,840,335 (GRCm39) N568K possibly damaging Het
Akr1cl G A 1: 65,063,928 (GRCm39) T87I probably damaging Het
Brcc3dc A T 10: 108,535,451 (GRCm39) V168E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Casp16 A T 17: 23,770,053 (GRCm39) C175* probably null Het
Cast T C 13: 74,844,052 (GRCm39) K694R possibly damaging Het
Cep70 G A 9: 99,144,954 (GRCm39) R100H probably benign Het
Cep72 C T 13: 74,186,395 (GRCm39) A259T possibly damaging Het
Chsy1 T A 7: 65,820,785 (GRCm39) M340K probably damaging Het
Col27a1 T C 4: 63,220,608 (GRCm39) S182P probably benign Het
Crlf2 A C 5: 109,704,897 (GRCm39) F103V possibly damaging Het
Dync2h1 T C 9: 7,159,632 (GRCm39) N652S probably benign Het
Ephx4 G A 5: 107,574,784 (GRCm39) G274D probably damaging Het
Fer T A 17: 64,298,601 (GRCm39) F517I probably damaging Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gata3 T A 2: 9,863,339 (GRCm39) N392Y possibly damaging Het
Gria4 C T 9: 4,793,822 (GRCm39) V79M probably damaging Het
Grk3 A C 5: 113,133,641 (GRCm39) N60K probably damaging Het
Igf1r T G 7: 67,653,927 (GRCm39) I155R probably damaging Het
Igsf9 T C 1: 172,323,329 (GRCm39) L681P probably damaging Het
Intu T C 3: 40,648,685 (GRCm39) M789T probably benign Het
Kit A T 5: 75,767,872 (GRCm39) Q85L probably benign Het
Klhdc2 T A 12: 69,355,750 (GRCm39) C325* probably null Het
Mcidas A G 13: 113,130,419 (GRCm39) E5G probably benign Het
Mcm5 G T 8: 75,853,918 (GRCm39) R724L possibly damaging Het
Nrbp2 G A 15: 75,963,332 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,084 (GRCm39) I655T probably damaging Het
Nsun4 T C 4: 115,910,131 (GRCm39) D143G possibly damaging Het
Opn3 C T 1: 175,490,615 (GRCm39) V349M probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or5d47 A T 2: 87,804,514 (GRCm39) V165E possibly damaging Het
Or6d14 T C 6: 116,533,736 (GRCm39) S117P probably damaging Het
Pank2 C A 2: 131,124,546 (GRCm39) L297I probably damaging Het
Pcdh20 T A 14: 88,704,690 (GRCm39) E870V probably benign Het
Pdcd6 T A 13: 74,457,959 (GRCm39) M71L possibly damaging Het
Phkb A T 8: 86,756,246 (GRCm39) I847F probably damaging Het
Psmb1 A G 17: 15,697,509 (GRCm39) F202S probably benign Het
Pwp2 C G 10: 78,020,127 (GRCm39) probably null Het
Rbms3 A G 9: 117,080,809 (GRCm39) Y21H probably damaging Het
Rhbdl1 T A 17: 26,055,158 (GRCm39) K17* probably null Het
Rp1l1 C A 14: 64,265,667 (GRCm39) Q418K possibly damaging Het
Scpppq1 A G 5: 104,222,603 (GRCm39) probably benign Het
Slc22a4 A T 11: 53,898,615 (GRCm39) V159E possibly damaging Het
Spata31d1a T C 13: 59,849,777 (GRCm39) T784A possibly damaging Het
Tll1 A G 8: 64,551,544 (GRCm39) M279T probably damaging Het
Tmem163 A T 1: 127,479,117 (GRCm39) V134D probably damaging Het
Top2b A G 14: 16,409,958 (GRCm38) N875S possibly damaging Het
Tpd52l1 T C 10: 31,208,853 (GRCm39) E205G probably benign Het
Tpsb2 T A 17: 25,586,802 (GRCm39) Y271* probably null Het
Ugt3a1 G A 15: 9,280,138 (GRCm39) probably null Het
Vmn2r67 T C 7: 84,801,840 (GRCm39) M154V probably benign Het
Zfp740 T G 15: 102,117,243 (GRCm39) I89S 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
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
Predicted Primers PCR Primer
(F):5'- CAGAGGTTGTTACTTGTCAAAGATC -3'
(R):5'- CAGTAGGCGGCTTAAACAAGC -3'

Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
Posted On 2019-09-23