Incidental Mutation 'R7561:Idh2'
ID 585124
Institutional Source Beutler Lab
Gene Symbol Idh2
Ensembl Gene ENSMUSG00000030541
Gene Name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms Idh-2, IDPm
MMRRC Submission 045654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7561 (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] [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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,341,314 (GRCm39) N314K probably benign Het
A430005L14Rik T A 4: 154,045,097 (GRCm39) I80N probably benign Het
Abca2 A G 2: 25,336,707 (GRCm39) H2271R probably damaging Het
Acad8 T C 9: 26,890,538 (GRCm39) I257V probably benign Het
Acot12 A T 13: 91,918,243 (GRCm39) T179S probably damaging Het
Adcy10 A G 1: 165,386,741 (GRCm39) R1155G possibly damaging Het
Adcy9 C T 16: 4,236,028 (GRCm39) C461Y probably damaging Het
Adgrf1 G A 17: 43,622,000 (GRCm39) V746I possibly damaging Het
Agbl1 C A 7: 76,348,509 (GRCm39) Q869K unknown Het
AI837181 T G 19: 5,476,491 (GRCm39) V218G probably damaging Het
Alg9 T C 9: 50,754,074 (GRCm39) S585P possibly damaging Het
Arhgef38 T C 3: 132,866,489 (GRCm39) Q216R Het
Asb4 A T 6: 5,430,968 (GRCm39) H401L possibly damaging Het
Atg7 G T 6: 114,650,002 (GRCm39) A60S possibly damaging Het
Atp10a T A 7: 58,476,881 (GRCm39) C1199S probably damaging Het
Blm G A 7: 80,152,276 (GRCm39) A557V probably damaging Het
Cbln1 A T 8: 88,198,624 (GRCm39) M82K probably benign Het
Ccdc183 T G 2: 25,501,529 (GRCm39) I293L probably benign Het
Col6a3 A G 1: 90,703,463 (GRCm39) S3035P unknown Het
Cux2 A T 5: 122,017,931 (GRCm39) S206T probably benign Het
Cyfip2 T C 11: 46,161,425 (GRCm39) D355G probably benign Het
Dhrs2 A G 14: 55,474,698 (GRCm39) H111R probably benign Het
Eif3b T G 5: 140,428,109 (GRCm39) D781E probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fermt1 A T 2: 132,758,008 (GRCm39) I469N probably benign Het
Fgf20 G T 8: 40,732,975 (GRCm39) N154K possibly damaging Het
Fndc10 T A 4: 155,779,328 (GRCm39) V124E probably damaging Het
Fra10ac1 T C 19: 38,210,324 (GRCm39) D13G probably damaging Het
Gpatch1 A G 7: 35,008,800 (GRCm39) S74P probably damaging Het
Gramd1b G A 9: 40,312,911 (GRCm39) T19I unknown Het
Grm8 T C 6: 27,429,524 (GRCm39) T457A probably benign Het
Gucy2g C A 19: 55,194,772 (GRCm39) V882L probably benign Het
Hectd4 G A 5: 121,429,288 (GRCm39) R811H possibly damaging Het
Hk1 C T 10: 62,116,807 (GRCm39) probably null Het
Il10ra T A 9: 45,167,117 (GRCm39) D480V probably benign Het
Il18rap A T 1: 40,563,537 (GRCm39) H22L probably benign Het
Inpp5a T A 7: 139,147,338 (GRCm39) I321N probably damaging Het
Insyn1 A G 9: 58,406,687 (GRCm39) D199G probably damaging Het
Kat2b T G 17: 53,948,286 (GRCm39) L352R probably benign Het
Katnip C T 7: 125,441,894 (GRCm39) S627L probably benign Het
Kcna1 A T 6: 126,619,108 (GRCm39) V404E probably damaging Het
Mcm3ap T A 10: 76,328,712 (GRCm39) V1110E possibly damaging Het
Moxd2 C T 6: 40,864,337 (GRCm39) R31H probably damaging Het
Mpdz A T 4: 81,225,388 (GRCm39) N1368K probably damaging Het
Mpzl3 G T 9: 44,966,610 (GRCm39) V24F probably benign Het
Mybph G A 1: 134,121,465 (GRCm39) probably null Het
Ncam1 G T 9: 49,476,242 (GRCm39) D282E probably damaging Het
Ntrk2 G A 13: 59,009,202 (GRCm39) C331Y probably benign Het
Nwd2 T A 5: 63,964,434 (GRCm39) C1339* probably null Het
Or3a1d T C 11: 74,238,436 (GRCm39) probably benign Het
Or5b98 T C 19: 12,931,403 (GRCm39) V150A probably benign Het
Or8k33 T C 2: 86,383,661 (GRCm39) D269G probably benign Het
Osbpl6 C A 2: 76,416,498 (GRCm39) T672N probably damaging Het
Pds5b T C 5: 150,662,783 (GRCm39) probably null Het
Perm1 A G 4: 156,303,217 (GRCm39) N587S probably benign Het
Pex7 A T 10: 19,770,012 (GRCm39) C165* probably null Het
Pik3r4 A G 9: 105,564,446 (GRCm39) T1347A possibly damaging Het
Pitpnm3 T C 11: 71,942,008 (GRCm39) D933G probably benign Het
Rnf213 T A 11: 119,332,545 (GRCm39) F2586I Het
Scn10a A G 9: 119,523,390 (GRCm39) M1T probably null Het
Sdhaf3 T A 6: 6,956,079 (GRCm39) L18Q not run Het
Septin7 A G 9: 25,209,151 (GRCm39) E256G possibly damaging Het
Slc35b2 A G 17: 45,877,727 (GRCm39) T236A probably damaging Het
Slc4a4 G A 5: 89,347,556 (GRCm39) G766R probably damaging Het
Slco6c1 G T 1: 97,000,691 (GRCm39) S537Y probably damaging Het
Srp68 T C 11: 116,139,593 (GRCm39) E452G probably damaging Het
Taf2 A T 15: 54,919,229 (GRCm39) M382K probably benign Het
Tas2r131 A G 6: 132,933,921 (GRCm39) L296P probably benign Het
Tlr9 A G 9: 106,103,148 (GRCm39) E813G probably benign Het
Trmt44 T C 5: 35,715,336 (GRCm39) E659G possibly damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Unc45a G T 7: 79,981,334 (GRCm39) S489R possibly damaging Het
Xrn1 T C 9: 95,881,511 (GRCm39) V795A probably benign Het
Zbtb22 A T 17: 34,136,952 (GRCm39) T366S probably benign Het
Zcchc10 T A 11: 53,215,545 (GRCm39) H6Q probably benign Het
Zfp60 A G 7: 27,447,955 (GRCm39) K208E probably damaging Het
Zfp780b A T 7: 27,664,037 (GRCm39) C173S possibly damaging Het
Zfp786 C A 6: 47,796,667 (GRCm39) R757L probably benign Het
Zfp936 G A 7: 42,839,339 (GRCm39) A269T probably damaging Het
Zfp976 T C 7: 42,265,701 (GRCm39) Y29C 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
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'- GAAGCATCAGAGGTTGTTACTTGTC -3'
(R):5'- GCTTAAACAAGCCTGTACCAGC -3'

Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
Posted On 2019-10-17