Incidental Mutation 'R9619:Idh2'
ID |
726590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9619 (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]
[ENSMUST00000206714]
[ENSMUST00000164056]
|
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: ENSMUST00000206714
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
T |
C |
17: 14,101,566 (GRCm39) |
L1033P |
probably damaging |
Het |
Agrn |
A |
G |
4: 156,258,490 (GRCm39) |
I992T |
probably benign |
Het |
Akap9 |
A |
T |
5: 4,094,833 (GRCm39) |
E2209V |
probably damaging |
Het |
Arfip1 |
C |
T |
3: 84,435,081 (GRCm39) |
G76E |
probably benign |
Het |
Arsk |
T |
C |
13: 76,223,151 (GRCm39) |
T149A |
probably damaging |
Het |
Caap1 |
A |
G |
4: 94,444,718 (GRCm39) |
V75A |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,385,965 (GRCm39) |
V2105A |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,436,827 (GRCm39) |
F571S |
probably benign |
Het |
Crx |
A |
T |
7: 15,602,185 (GRCm39) |
D164E |
probably benign |
Het |
Csgalnact1 |
A |
G |
8: 68,854,006 (GRCm39) |
V265A |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,413,662 (GRCm39) |
R1051Q |
probably benign |
Het |
Dld |
A |
T |
12: 31,382,390 (GRCm39) |
L471* |
probably null |
Het |
Dmrtb1 |
G |
T |
4: 107,540,847 (GRCm39) |
H171Q |
probably benign |
Het |
Dnajc12 |
G |
A |
10: 63,233,075 (GRCm39) |
R72Q |
probably damaging |
Het |
Dpf1 |
A |
G |
7: 29,012,618 (GRCm39) |
H237R |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,416,499 (GRCm39) |
L800Q |
probably damaging |
Het |
Dyrk2 |
A |
T |
10: 118,696,292 (GRCm39) |
L322Q |
probably damaging |
Het |
Ect2 |
A |
G |
3: 27,201,026 (GRCm39) |
V149A |
probably benign |
Het |
Efhc1 |
G |
A |
1: 21,037,603 (GRCm39) |
R260H |
probably benign |
Het |
Emp2 |
G |
T |
16: 10,102,420 (GRCm39) |
Q131K |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,594,249 (GRCm39) |
I593T |
possibly damaging |
Het |
Fbln5 |
A |
C |
12: 101,723,552 (GRCm39) |
I383S |
probably damaging |
Het |
Foxq1 |
A |
T |
13: 31,743,580 (GRCm39) |
E227D |
probably benign |
Het |
Gm8237 |
A |
T |
14: 5,863,637 (GRCm38) |
N9K |
probably damaging |
Het |
Ifi44 |
T |
C |
3: 151,451,509 (GRCm39) |
N199S |
probably damaging |
Het |
Ifna16 |
T |
G |
4: 88,594,762 (GRCm39) |
D111A |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,092,552 (GRCm39) |
D793G |
probably benign |
Het |
Igfbp5 |
A |
G |
1: 72,901,543 (GRCm39) |
V270A |
probably benign |
Het |
Kif20b |
A |
C |
19: 34,933,429 (GRCm39) |
D1345A |
probably damaging |
Het |
Klhl9 |
T |
C |
4: 88,639,062 (GRCm39) |
H393R |
probably benign |
Het |
Lad1 |
G |
T |
1: 135,755,521 (GRCm39) |
A266S |
possibly damaging |
Het |
Lama2 |
A |
G |
10: 27,064,282 (GRCm39) |
L1233P |
probably damaging |
Het |
Limch1 |
T |
C |
5: 67,015,284 (GRCm39) |
I52T |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,443,871 (GRCm39) |
F599L |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,628,478 (GRCm39) |
D703G |
possibly damaging |
Het |
Nexmif |
C |
T |
X: 103,129,841 (GRCm39) |
R692H |
possibly damaging |
Het |
Ogfod2 |
G |
A |
5: 124,252,470 (GRCm39) |
G183D |
probably damaging |
Het |
Or2z8 |
T |
C |
8: 72,811,605 (GRCm39) |
L27S |
probably damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,140 (GRCm39) |
I113F |
possibly damaging |
Het |
Pcgf6 |
T |
C |
19: 47,037,261 (GRCm39) |
T182A |
possibly damaging |
Het |
Pcnx4 |
T |
A |
12: 72,622,282 (GRCm39) |
C1084S |
possibly damaging |
Het |
Peg10 |
A |
G |
6: 4,755,316 (GRCm39) |
N366D |
probably benign |
Het |
Prr16 |
T |
A |
18: 51,435,797 (GRCm39) |
I92K |
possibly damaging |
Het |
Rbm39 |
A |
T |
2: 156,001,117 (GRCm39) |
N312K |
probably damaging |
Het |
Rps10 |
G |
A |
17: 27,849,459 (GRCm39) |
R160C |
probably benign |
Het |
Scrg1 |
G |
T |
8: 57,927,363 (GRCm39) |
V5L |
unknown |
Het |
Slc39a4 |
T |
A |
15: 76,497,874 (GRCm39) |
H408L |
probably damaging |
Het |
Slco1a5 |
T |
C |
6: 142,198,846 (GRCm39) |
E273G |
probably benign |
Het |
Syne1 |
A |
C |
10: 5,090,909 (GRCm39) |
V815G |
probably benign |
Het |
Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
Treml1 |
T |
A |
17: 48,672,006 (GRCm39) |
F167I |
probably benign |
Het |
Trpv2 |
T |
C |
11: 62,480,562 (GRCm39) |
V333A |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,053 (GRCm39) |
F346L |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,440,622 (GRCm39) |
Y412F |
possibly damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,926,136 (GRCm39) |
N547S |
probably damaging |
Het |
Vopp1 |
G |
A |
6: 57,731,617 (GRCm39) |
P125S |
probably benign |
Het |
Wwc1 |
A |
G |
11: 35,766,779 (GRCm39) |
F492S |
probably damaging |
Het |
Zfp114 |
A |
G |
7: 23,880,077 (GRCm39) |
E142G |
probably benign |
Het |
Zfp715 |
A |
C |
7: 42,949,104 (GRCm39) |
Y285* |
probably null |
Het |
Zwilch |
A |
G |
9: 64,057,440 (GRCm39) |
V442A |
probably benign |
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 |
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 |
|
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'- GCTTAAACAAGCCTGTACCAGC -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
|
Posted On |
2022-10-06 |