Incidental Mutation 'R8951:Idh2'
ID 681640
Institutional Source Beutler Lab
Gene Symbol Idh2
Ensembl Gene ENSMUSG00000030541
Gene Name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms Idh-2, IDPm
MMRRC Submission 068788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8951 (G1)
Quality Score 214.974
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] [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: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 T C 11: 102,665,193 (GRCm39) probably null Het
Adcy6 A T 15: 98,502,140 (GRCm39) V158E possibly damaging Het
Adgrg3 T C 8: 95,761,362 (GRCm39) probably benign Het
Arsb T C 13: 93,944,124 (GRCm39) S272P probably damaging Het
Asb10 A C 5: 24,742,952 (GRCm39) C260W probably damaging Het
Atp13a1 A G 8: 70,246,484 (GRCm39) D158G probably benign Het
Bcl6 T C 16: 23,793,704 (GRCm39) E81G probably damaging Het
C7 A T 15: 5,032,231 (GRCm39) V660E probably benign Het
Cacna1c T C 6: 118,590,300 (GRCm39) D1401G probably damaging Het
Ccp110 A G 7: 118,321,015 (GRCm39) I223M possibly damaging Het
Cilp A G 9: 65,180,220 (GRCm39) E187G probably benign Het
Cmc2 T C 8: 117,637,904 (GRCm39) N15S probably damaging Het
Cnnm3 T A 1: 36,558,019 (GRCm39) probably benign Het
Col27a1 T G 4: 63,191,311 (GRCm39) M828R possibly damaging Het
Cpm C T 10: 117,511,938 (GRCm39) P294L probably damaging Het
Cpt1a G C 19: 3,412,211 (GRCm39) A228P probably benign Het
Ctbp1 A G 5: 33,416,679 (GRCm39) V43A probably damaging Het
Cylc2 A T 4: 51,229,469 (GRCm39) E270D unknown Het
Cyp46a1 A C 12: 108,312,348 (GRCm39) R119S possibly damaging Het
Dctn3 A T 4: 41,719,845 (GRCm39) I87N probably damaging Het
Dhdds C T 4: 133,719,857 (GRCm39) V25I possibly damaging Het
Entpd1 A C 19: 40,727,319 (GRCm39) N489T probably damaging Het
Fam110a T C 2: 151,812,461 (GRCm39) D103G probably damaging Het
Foxo6 T A 4: 120,125,133 (GRCm39) Q554L unknown Het
Gbp5 T A 3: 142,206,481 (GRCm39) M55K probably damaging Het
Gm20730 T C 6: 43,058,638 (GRCm39) Y58C possibly damaging Het
Grip1 T A 10: 119,874,509 (GRCm39) S679T possibly damaging Het
Gtdc1 A C 2: 44,679,030 (GRCm39) probably benign Het
Igha T A 12: 113,222,684 (GRCm39) N246Y Het
Ighg2b T A 12: 113,270,926 (GRCm39) T104S probably benign Het
Ighmbp2 C T 19: 3,318,726 (GRCm39) W450* probably null Het
Ipo11 T C 13: 106,978,690 (GRCm39) E839G possibly damaging Het
Iqce T C 5: 140,675,578 (GRCm39) D207G probably damaging Het
Irgm2 T C 11: 58,110,408 (GRCm39) V45A possibly damaging Het
Itga1 C T 13: 115,107,027 (GRCm39) W1021* probably null Het
Itga3 T C 11: 94,944,911 (GRCm39) Y799C probably damaging Het
Klf1 T C 8: 85,629,912 (GRCm39) S246P possibly damaging Het
Kras A T 6: 145,166,338 (GRCm39) M188K probably benign Het
Lacc1 C T 14: 77,272,613 (GRCm39) C61Y probably benign Het
Lect2 T A 13: 56,690,822 (GRCm39) probably benign Het
Leng9 G A 7: 4,152,782 (GRCm39) probably benign Het
Lhx9 A G 1: 138,769,704 (GRCm39) C6R probably damaging Het
Matn3 T A 12: 9,002,172 (GRCm39) I128K probably damaging Het
Ndst1 T C 18: 60,830,196 (GRCm39) E638G probably benign Het
Nell2 A T 15: 95,139,424 (GRCm39) C603S probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Oas1h T G 5: 121,000,657 (GRCm39) F89C probably damaging Het
Or4d10c A T 19: 12,066,056 (GRCm39) Y33* probably null Het
Or52l1 A G 7: 104,829,638 (GRCm39) V294A probably damaging Het
Or5b101 T A 19: 13,004,827 (GRCm39) S289C Het
Or5d45 C T 2: 88,153,975 (GRCm39) G25S probably damaging Het
P2ry2 G A 7: 100,647,228 (GRCm39) T359I probably damaging Het
Pbxip1 T A 3: 89,352,864 (GRCm39) V170E probably benign Het
Pcdhb20 T A 18: 37,639,146 (GRCm39) N557K probably damaging Het
Pdilt A G 7: 119,099,611 (GRCm39) V219A possibly damaging Het
Plec G T 15: 76,067,310 (GRCm39) S1149* probably null Het
Pnkp C T 7: 44,507,617 (GRCm39) T61I possibly damaging Het
Polr1f G T 12: 33,487,867 (GRCm39) E261* probably null Het
Prss56 T A 1: 87,115,749 (GRCm39) V541D probably damaging Het
Rab40c A G 17: 26,138,407 (GRCm39) V25A probably damaging Het
Rgs8 A T 1: 153,546,567 (GRCm39) H22L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc1a2 T C 2: 102,586,353 (GRCm39) V319A probably damaging Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Spata18 A T 5: 73,828,572 (GRCm39) I378F probably damaging Het
Speer1i T A 5: 11,092,799 (GRCm39) Y79* probably null Het
Stag1 T C 9: 100,762,854 (GRCm39) V485A probably damaging Het
Tas2r104 T A 6: 131,662,569 (GRCm39) I47F probably damaging Het
Thumpd1 A T 7: 119,317,471 (GRCm39) H143Q possibly damaging Het
Tmem231 T C 8: 112,640,697 (GRCm39) Q272R probably damaging Het
Tnfaip2 A G 12: 111,412,310 (GRCm39) D237G probably benign Het
Tox3 T C 8: 91,074,543 (GRCm39) D12G probably benign Het
Vmn1r1 A G 1: 181,985,309 (GRCm39) S119P probably damaging Het
Xrn1 A G 9: 95,870,999 (GRCm39) E608G probably benign Het
Zfp395 T C 14: 65,629,528 (GRCm39) C281R probably damaging 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
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'- AGGAAGCATCAGAGGTTGTTAC -3'
(R):5'- GCTTAAACAAGCCTGTACCAG -3'

Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
Posted On 2021-08-31