Incidental Mutation 'R0387:Idh2'
ID |
65516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
MMRRC Submission |
038593-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0387 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79748005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 232
(A232T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107384]
[ENSMUST00000125542]
[ENSMUST00000134328]
[ENSMUST00000164056]
[ENSMUST00000206714]
|
AlphaFold |
P54071 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107384
AA Change: A232T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103007 Gene: ENSMUSG00000030541 AA Change: A232T
Domain | Start | End | E-Value | Type |
Iso_dh
|
49 |
441 |
5.32e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125542
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134070
|
Predicted Effect |
unknown
Transcript: ENSMUST00000134328
AA Change: R268H
|
SMART Domains |
Protein: ENSMUSP00000118184 Gene: ENSMUSG00000030541 AA Change: R268H
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
|
Meta Mutation Damage Score |
0.9207 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.0%
|
Validation Efficiency |
99% (77/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
G |
7: 119,932,075 (GRCm39) |
|
probably null |
Het |
Abcc9 |
T |
A |
6: 142,585,230 (GRCm39) |
K825* |
probably null |
Het |
Afp |
T |
C |
5: 90,645,150 (GRCm39) |
C189R |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,001,678 (GRCm39) |
|
probably benign |
Het |
Alpk3 |
A |
T |
7: 80,753,975 (GRCm39) |
T1652S |
possibly damaging |
Het |
Atg4b |
C |
A |
1: 93,714,278 (GRCm39) |
Q354K |
probably benign |
Het |
Atxn2 |
T |
C |
5: 121,940,206 (GRCm39) |
S388P |
possibly damaging |
Het |
C2cd3 |
T |
A |
7: 100,071,714 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
C |
A |
9: 107,391,080 (GRCm39) |
T403K |
probably damaging |
Het |
Cap2 |
C |
T |
13: 46,713,992 (GRCm39) |
H79Y |
probably damaging |
Het |
Car10 |
G |
T |
11: 93,473,847 (GRCm39) |
|
probably null |
Het |
Ccno |
T |
C |
13: 113,126,401 (GRCm39) |
L290P |
probably damaging |
Het |
Cfap69 |
T |
C |
5: 5,639,303 (GRCm39) |
K624E |
probably damaging |
Het |
Ctnna3 |
A |
G |
10: 64,421,909 (GRCm39) |
M568V |
probably benign |
Het |
Cyp1b1 |
C |
A |
17: 80,021,203 (GRCm39) |
V180L |
probably benign |
Het |
Cyp2u1 |
G |
T |
3: 131,089,201 (GRCm39) |
|
probably null |
Het |
Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
Dnm1 |
C |
T |
2: 32,210,593 (GRCm39) |
G1S |
possibly damaging |
Het |
Dnmt1 |
A |
G |
9: 20,829,509 (GRCm39) |
L698P |
probably damaging |
Het |
Dock10 |
C |
A |
1: 80,517,993 (GRCm39) |
C1327F |
probably damaging |
Het |
Dph3b-ps |
A |
G |
13: 106,683,363 (GRCm39) |
|
noncoding transcript |
Het |
Dpyd |
G |
A |
3: 119,220,875 (GRCm39) |
D949N |
probably benign |
Het |
Dync2li1 |
A |
G |
17: 84,962,768 (GRCm39) |
K345E |
possibly damaging |
Het |
Eml2 |
T |
A |
7: 18,916,184 (GRCm39) |
|
probably null |
Het |
Exoc7 |
A |
G |
11: 116,185,227 (GRCm39) |
|
probably benign |
Het |
Faah |
A |
T |
4: 115,862,889 (GRCm39) |
C113* |
probably null |
Het |
Fcf1 |
T |
A |
12: 85,019,776 (GRCm39) |
D16E |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,790,879 (GRCm39) |
|
probably benign |
Het |
Ghr |
A |
G |
15: 3,349,373 (GRCm39) |
S602P |
probably benign |
Het |
Gm5114 |
T |
C |
7: 39,058,233 (GRCm39) |
D462G |
probably benign |
Het |
Gm8186 |
T |
A |
17: 26,318,000 (GRCm39) |
S66C |
probably damaging |
Het |
Gorab |
C |
T |
1: 163,224,403 (GRCm39) |
V133M |
probably benign |
Het |
Gria1 |
G |
A |
11: 57,200,710 (GRCm39) |
|
probably null |
Het |
Grik1 |
T |
A |
16: 87,831,238 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,280,276 (GRCm39) |
L378P |
probably damaging |
Het |
Htr5b |
A |
T |
1: 121,455,275 (GRCm39) |
V215D |
probably damaging |
Het |
Htra1 |
A |
G |
7: 130,581,208 (GRCm39) |
T319A |
probably damaging |
Het |
Klrb1a |
A |
C |
6: 128,586,697 (GRCm39) |
H189Q |
possibly damaging |
Het |
Lhfpl6 |
A |
G |
3: 52,950,749 (GRCm39) |
T8A |
probably benign |
Het |
Ly75 |
T |
A |
2: 60,136,748 (GRCm39) |
Y1493F |
probably benign |
Het |
Mfsd5 |
T |
C |
15: 102,189,531 (GRCm39) |
I301T |
possibly damaging |
Het |
Mlkl |
C |
T |
8: 112,059,982 (GRCm39) |
E135K |
probably damaging |
Het |
Mrgprx2 |
A |
C |
7: 48,148,908 (GRCm39) |
M1R |
probably null |
Het |
Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
Mtbp |
A |
G |
15: 55,474,425 (GRCm39) |
I280V |
possibly damaging |
Het |
Myo5c |
A |
T |
9: 75,192,303 (GRCm39) |
|
probably benign |
Het |
Nos3 |
A |
G |
5: 24,572,583 (GRCm39) |
K174R |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,883,737 (GRCm39) |
|
probably benign |
Het |
Or8b40 |
T |
A |
9: 38,027,066 (GRCm39) |
|
probably null |
Het |
Pi4kb |
G |
C |
3: 94,892,051 (GRCm39) |
E256Q |
probably benign |
Het |
Pik3c2a |
T |
A |
7: 115,972,979 (GRCm39) |
I739F |
probably damaging |
Het |
Pla2r1 |
T |
A |
2: 60,262,945 (GRCm39) |
K1031N |
probably benign |
Het |
Plk4 |
A |
T |
3: 40,767,319 (GRCm39) |
|
probably benign |
Het |
Polq |
T |
C |
16: 36,849,792 (GRCm39) |
C349R |
probably damaging |
Het |
Polq |
G |
T |
16: 36,909,679 (GRCm39) |
E2354D |
probably damaging |
Het |
Prss22 |
A |
G |
17: 24,212,903 (GRCm39) |
L278P |
probably damaging |
Het |
Prss3l |
A |
G |
6: 41,420,303 (GRCm39) |
I141T |
possibly damaging |
Het |
Ptprk |
G |
A |
10: 28,230,625 (GRCm39) |
V239I |
possibly damaging |
Het |
Raph1 |
T |
G |
1: 60,549,655 (GRCm39) |
|
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ripor3 |
C |
T |
2: 167,825,692 (GRCm39) |
W755* |
probably null |
Het |
Rnd3 |
G |
T |
2: 51,038,243 (GRCm39) |
D77E |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,782,792 (GRCm39) |
|
probably benign |
Het |
Serpinb1a |
C |
T |
13: 33,032,721 (GRCm39) |
V63I |
probably benign |
Het |
Six1 |
T |
G |
12: 73,092,815 (GRCm39) |
Y129S |
probably damaging |
Het |
Spata31d1a |
G |
A |
13: 59,851,315 (GRCm39) |
T271I |
probably damaging |
Het |
Stab1 |
T |
C |
14: 30,870,058 (GRCm39) |
D1387G |
probably benign |
Het |
Stra6 |
T |
A |
9: 58,060,466 (GRCm39) |
M625K |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,301,029 (GRCm39) |
S900G |
probably benign |
Het |
Tdpoz4 |
A |
C |
3: 93,704,007 (GRCm39) |
K101N |
probably benign |
Het |
Tigd2 |
T |
C |
6: 59,188,143 (GRCm39) |
Y337H |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,902,548 (GRCm39) |
I1134V |
probably benign |
Het |
Tspyl5 |
A |
G |
15: 33,687,081 (GRCm39) |
I288T |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,936,663 (GRCm39) |
V61A |
possibly damaging |
Het |
Xxylt1 |
A |
G |
16: 30,776,194 (GRCm39) |
Y381H |
probably benign |
Het |
Zcchc9 |
T |
A |
13: 91,949,066 (GRCm39) |
M12L |
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,358,953 (GRCm39) |
|
probably null |
Het |
Zfp74 |
T |
A |
7: 29,634,179 (GRCm39) |
T510S |
probably benign |
Het |
Zfp808 |
A |
G |
13: 62,317,292 (GRCm39) |
T14A |
probably damaging |
Het |
|
Other mutations in Idh2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2013-08-08 |