Incidental Mutation 'R1844:Idh2'
ID 207542
Institutional Source Beutler Lab
Gene Symbol Idh2
Ensembl Gene ENSMUSG00000030541
Gene Name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms Idh-2, IDPm
MMRRC Submission 039869-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1844 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79744594-79765140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 79748625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 113 (T113R)
Ref Sequence ENSEMBL: ENSMUSP00000145852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107384] [ENSMUST00000125542] [ENSMUST00000134328] [ENSMUST00000164056] [ENSMUST00000206714]
AlphaFold P54071
Predicted Effect probably benign
Transcript: ENSMUST00000107384
AA Change: T191R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541
AA Change: T191R

DomainStartEndE-ValueType
Iso_dh 49 441 5.32e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125542
AA Change: T113R

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134070
Predicted Effect probably benign
Transcript: ENSMUST00000134328
AA Change: T191R

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118184
Gene: ENSMUSG00000030541
AA Change: T191R

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.1%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,197,566 (GRCm39) K857E probably benign Het
Adam20 A G 8: 41,249,080 (GRCm39) N397D probably benign Het
Adgrf3 T G 5: 30,404,211 (GRCm39) D347A probably damaging Het
Ang6 C T 14: 44,239,330 (GRCm39) E133K possibly damaging Het
Arhgap23 T A 11: 97,354,234 (GRCm39) W205R probably damaging Het
Arhgef40 C A 14: 52,235,080 (GRCm39) R1086S probably damaging Het
Atr G T 9: 95,787,870 (GRCm39) A1488S probably benign Het
Cabin1 A T 10: 75,579,184 (GRCm39) probably null Het
Cby2 C T 14: 75,820,850 (GRCm39) V292I probably benign Het
Cdh22 A C 2: 164,985,614 (GRCm39) F324C probably damaging Het
Cep350 T C 1: 155,724,374 (GRCm39) I3075V probably damaging Het
Chd9 A T 8: 91,683,323 (GRCm39) K588* probably null Het
Clns1a A T 7: 97,346,066 (GRCm39) I44F probably damaging Het
Colgalt1 T C 8: 72,063,995 (GRCm39) I51T possibly damaging Het
Cpt2 C T 4: 107,761,452 (GRCm39) E217K possibly damaging Het
Ctss A G 3: 95,454,105 (GRCm39) probably null Het
Cyp1a1 A G 9: 57,609,980 (GRCm39) T465A probably benign Het
Dbn1 A G 13: 55,629,160 (GRCm39) probably null Het
Dennd1b A G 1: 139,018,143 (GRCm39) probably null Het
Dnajc1 A C 2: 18,298,838 (GRCm39) Y49* probably null Het
Dock10 T A 1: 80,520,918 (GRCm39) I1188L probably damaging Het
Dsg1c T G 18: 20,416,096 (GRCm39) probably null Het
Efcab6 G A 15: 83,851,822 (GRCm39) T352I possibly damaging Het
Eps8l3 T C 3: 107,786,902 (GRCm39) L26P possibly damaging Het
Fbxw26 A G 9: 109,553,946 (GRCm39) V231A probably benign Het
Fetub G A 16: 22,754,419 (GRCm39) E209K possibly damaging Het
Galc A T 12: 98,212,556 (GRCm39) probably null Het
Gm6871 A T 7: 41,222,892 (GRCm39) N65K probably benign Het
Gstp3 A G 19: 4,107,540 (GRCm39) I208T probably benign Het
Gtpbp3 A G 8: 71,945,272 (GRCm39) Y448C probably benign Het
Hdac7 G T 15: 97,705,857 (GRCm39) Q385K probably damaging Het
Hemgn C T 4: 46,396,655 (GRCm39) V194M possibly damaging Het
Jarid2 A C 13: 45,056,219 (GRCm39) K336T possibly damaging Het
Kcnj4 C T 15: 79,369,216 (GRCm39) V255M probably damaging Het
Ldhb C A 6: 142,439,934 (GRCm39) W202L probably damaging Het
Lmbrd2 T A 15: 9,177,838 (GRCm39) Y512* probably null Het
Lrp1 A G 10: 127,431,152 (GRCm39) probably null Het
Map3k12 G A 15: 102,411,970 (GRCm39) P365S probably damaging Het
Map3k5 G A 10: 19,979,909 (GRCm39) D806N probably benign Het
Matn3 A G 12: 9,017,662 (GRCm39) E438G possibly damaging Het
Mcmbp G A 7: 128,325,698 (GRCm39) L97F probably damaging Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Mphosph8 T C 14: 56,934,616 (GRCm39) V855A probably damaging Het
Mycbp2 T A 14: 103,393,150 (GRCm39) H3027L possibly damaging Het
Nbea C T 3: 55,989,857 (GRCm39) R333H probably damaging Het
Notch1 G T 2: 26,350,446 (GRCm39) H2231Q probably benign Het
Npas2 A T 1: 39,364,456 (GRCm39) H266L probably damaging Het
Oas3 A G 5: 120,898,045 (GRCm39) S833P probably damaging Het
Or1j15 T C 2: 36,458,789 (GRCm39) Y60H probably damaging Het
Or5ak24 T C 2: 85,260,265 (GRCm39) T303A probably benign Het
Or5w17 A C 2: 87,584,334 (GRCm39) M1R probably null Het
Or6c65 G A 10: 129,603,725 (GRCm39) R120H probably benign Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pitpnm1 T C 19: 4,162,395 (GRCm39) V1075A probably damaging Het
Pkp3 G A 7: 140,668,415 (GRCm39) V555M probably damaging Het
Plekhm2 T C 4: 141,359,685 (GRCm39) T381A probably benign Het
Plppr3 A G 10: 79,702,244 (GRCm39) probably null Het
Ppp2r5e A T 12: 75,516,540 (GRCm39) F216I possibly damaging Het
Ppp3ca T A 3: 136,627,672 (GRCm39) V412D probably benign Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Psph A C 5: 129,843,532 (GRCm39) I174R probably damaging Het
Ptov1 A G 7: 44,514,991 (GRCm39) Y207H possibly damaging Het
Ptprs A G 17: 56,741,510 (GRCm39) S585P probably damaging Het
Rnf146 A T 10: 29,223,720 (GRCm39) H55Q probably damaging Het
Rnf213 T A 11: 119,332,009 (GRCm39) M2407K probably damaging Het
Rnls A C 19: 33,179,931 (GRCm39) L55R possibly damaging Het
Rptor T C 11: 119,647,146 (GRCm39) C246R probably damaging Het
Rrp12 C T 19: 41,866,222 (GRCm39) probably null Het
Samd3 A G 10: 26,127,672 (GRCm39) D223G probably damaging Het
Sdad1 G A 5: 92,453,155 (GRCm39) Q68* probably null Het
Selenov G A 7: 27,989,847 (GRCm39) T219M probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Slc26a10 A T 10: 127,014,279 (GRCm39) V245E probably damaging Het
Slit1 A G 19: 41,614,012 (GRCm39) L820P probably damaging Het
Snap23 T C 2: 120,421,163 (GRCm39) F96L probably benign Het
Speer1k T C 5: 10,998,994 (GRCm39) probably benign Het
Spef1l A T 7: 139,556,005 (GRCm39) I212N probably benign Het
Stkld1 A G 2: 26,840,115 (GRCm39) H395R probably damaging Het
Syt13 G A 2: 92,771,165 (GRCm39) G84D probably damaging Het
Terb2 T A 2: 122,016,990 (GRCm39) L37Q probably damaging Het
Themis A G 10: 28,657,753 (GRCm39) Y107C probably damaging Het
Top2a T A 11: 98,906,895 (GRCm39) T249S probably benign Het
Tspo2 A T 17: 48,756,148 (GRCm39) F71Y probably damaging Het
Ttc21b T A 2: 66,053,921 (GRCm39) K753* probably null Het
Ttk A G 9: 83,736,915 (GRCm39) Y458C possibly damaging Het
Ttn T C 2: 76,586,017 (GRCm39) R21905G probably damaging Het
Ugt3a1 T A 15: 9,351,254 (GRCm39) F88I probably benign Het
Vmn1r119 A G 7: 20,746,121 (GRCm39) L87P probably damaging Het
Vmn1r36 A G 6: 66,693,747 (GRCm39) F6L probably benign Het
Vmn2r15 T A 5: 109,434,860 (GRCm39) K615* probably null Het
Wdr18 G A 10: 79,802,561 (GRCm39) probably null Het
Wdr6 A T 9: 108,453,176 (GRCm39) W236R probably damaging Het
Zbtb48 T C 4: 152,110,955 (GRCm39) T187A 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
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
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'- TCCTGGCATGAGAATGAGGC -3'
(R):5'- CTTCAGAGAGCCAATCATCTGC -3'

Sequencing Primer
(F):5'- CATGAGAATGAGGCCAACAGAAGC -3'
(R):5'- AAACATCCCCCGCCTTGTC -3'
Posted On 2014-06-23