Incidental Mutation 'IGL02892:Idh2'
ID 363206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Idh2
Ensembl Gene ENSMUSG00000030541
Gene Name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms Idh-2, IDPm
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02892
Quality Score
Status
Chromosome 7
Chromosomal Location 79744594-79765140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79745418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 408 (S408G)
Ref Sequence ENSEMBL: ENSMUSP00000103007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049680] [ENSMUST00000107384] [ENSMUST00000125542] [ENSMUST00000134328] [ENSMUST00000206714] [ENSMUST00000164056] [ENSMUST00000166250]
AlphaFold P54071
Predicted Effect probably benign
Transcript: ENSMUST00000049680
SMART Domains Protein: ENSMUSP00000050577
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: ENSMUST00000107384
AA Change: S408G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541
AA Change: S408G

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
Predicted Effect probably benign
Transcript: ENSMUST00000166250
SMART Domains Protein: ENSMUSP00000129357
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
low complexity region 614 633 N/A INTRINSIC
Coding Region Coverage
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,651,771 (GRCm39) L493* probably null Het
Adam32 T A 8: 25,368,727 (GRCm39) probably benign Het
Alpk1 T C 3: 127,473,771 (GRCm39) D744G possibly damaging Het
Arhgef12 A G 9: 42,912,268 (GRCm39) V530A possibly damaging Het
Baz2b A T 2: 59,731,080 (GRCm39) N2095K probably damaging Het
Btnl2 A T 17: 34,581,642 (GRCm39) Q240L possibly damaging Het
Cd96 T C 16: 45,870,160 (GRCm39) probably null Het
Cep350 G A 1: 155,744,552 (GRCm39) T2089I possibly damaging Het
Chd9 T C 8: 91,703,543 (GRCm39) probably benign Het
Cib4 C T 5: 30,702,051 (GRCm39) probably benign Het
Cilp2 T C 8: 70,336,970 (GRCm39) T280A probably benign Het
Coq5 T A 5: 115,432,876 (GRCm39) probably benign Het
Cyth3 A G 5: 143,693,192 (GRCm39) I339V possibly damaging Het
Dcaf7 T C 11: 105,937,518 (GRCm39) V47A possibly damaging Het
Dcdc2c A G 12: 28,585,544 (GRCm39) I151T probably benign Het
Defb7 T A 8: 19,547,678 (GRCm39) F61Y probably benign Het
Diaph3 T A 14: 87,104,066 (GRCm39) K773* probably null Het
Dmxl1 A G 18: 49,992,187 (GRCm39) N311S probably damaging Het
Dnah7b G A 1: 46,158,458 (GRCm39) R347H possibly damaging Het
Egflam C T 15: 7,319,277 (GRCm39) V234I probably benign Het
Emilin3 C T 2: 160,751,069 (GRCm39) V180M possibly damaging Het
Fam76b A T 9: 13,740,117 (GRCm39) E50V probably null Het
Fat3 A T 9: 16,288,858 (GRCm39) Y222N probably damaging Het
Grm7 A G 6: 111,230,981 (GRCm39) N468S probably damaging Het
Gucy1a2 G T 9: 3,634,471 (GRCm39) G172C probably damaging Het
Hmcn1 A C 1: 150,551,725 (GRCm39) probably null Het
Hydin G A 8: 111,325,591 (GRCm39) V4667M possibly damaging Het
Kcng4 T C 8: 120,359,821 (GRCm39) Q185R probably benign Het
Lamp3 A G 16: 19,494,802 (GRCm39) V301A probably damaging Het
Lrrc23 T C 6: 124,751,399 (GRCm39) N220S probably benign Het
Lrrc41 T A 4: 115,946,032 (GRCm39) M249K possibly damaging Het
Ltbp4 T A 7: 27,010,074 (GRCm39) D1162V probably damaging Het
Mlh1 T C 9: 111,082,037 (GRCm39) I229V probably benign Het
Or1o11 T C 17: 37,756,925 (GRCm39) L160P probably damaging Het
Pgap6 A G 17: 26,338,094 (GRCm39) Y466C probably damaging Het
Plekhg2 T A 7: 28,062,342 (GRCm39) D525V probably damaging Het
Plin4 T C 17: 56,412,108 (GRCm39) K641R probably damaging Het
Plxnb2 A G 15: 89,045,425 (GRCm39) probably null Het
Polr1a T C 6: 71,908,680 (GRCm39) S502P possibly damaging Het
Prss16 A G 13: 22,187,220 (GRCm39) V450A probably benign Het
Prss42 G A 9: 110,628,458 (GRCm39) V201M probably damaging Het
Pus7 A T 5: 23,959,554 (GRCm39) N322K probably damaging Het
Riok1 G T 13: 38,224,041 (GRCm39) probably benign Het
Rmdn3 T A 2: 118,984,561 (GRCm39) T64S probably benign Het
Rmnd5a T A 6: 71,391,798 (GRCm39) M131L probably benign Het
Rtbdn C T 8: 85,681,718 (GRCm39) R170C probably damaging Het
Sesn3 T C 9: 14,226,030 (GRCm39) probably null Het
Slc2a6 A G 2: 26,914,305 (GRCm39) Y271H probably benign Het
Slc5a5 T G 8: 71,345,161 (GRCm39) T49P probably damaging Het
Slc7a10 T C 7: 34,894,593 (GRCm39) V84A possibly damaging Het
Slc9a4 A G 1: 40,623,204 (GRCm39) T148A possibly damaging Het
Smg1 T A 7: 117,767,178 (GRCm39) probably benign Het
Snx19 T A 9: 30,339,660 (GRCm39) V266E probably damaging Het
Synm T A 7: 67,384,804 (GRCm39) I511F probably damaging Het
Tango6 T A 8: 107,468,642 (GRCm39) probably benign Het
Tie1 T A 4: 118,343,479 (GRCm39) D128V probably damaging Het
Timeless T C 10: 128,080,120 (GRCm39) L423P probably damaging Het
Tln1 A G 4: 43,555,679 (GRCm39) L145P probably damaging Het
Trp53i13 A T 11: 77,399,121 (GRCm39) D376E probably damaging Het
Ubr4 A T 4: 139,144,642 (GRCm39) I1484F probably damaging Het
Unc13a C T 8: 72,102,554 (GRCm39) V943M probably damaging Het
Usp50 T C 2: 126,611,822 (GRCm39) K301R probably damaging Het
Vmn1r62 G T 7: 5,679,202 (GRCm39) M294I probably benign Het
Vps39 A G 2: 120,153,652 (GRCm39) probably benign Het
Vwa8 T A 14: 79,341,140 (GRCm39) probably benign Het
Wdr27 A T 17: 15,096,438 (GRCm39) W748R possibly 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
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
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
Posted On 2015-12-18