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)
|
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
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 |
probably benign
Transcript: ENSMUST00000134328
|
SMART Domains |
Protein: ENSMUSP00000118184 Gene: ENSMUSG00000030541
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
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |