Incidental Mutation 'R7401:Idh2'
| ID |
574168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh2
|
| Ensembl Gene |
ENSMUSG00000030541 |
| Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Synonyms |
Idh-2, IDPm |
| MMRRC Submission |
045483-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7401 (G1)
|
| Quality Score |
107.467 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
GGTCCCAG to GG
at 79748077 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 |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
A |
T |
16: 16,936,268 (GRCm39) |
L152Q |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 105,114,640 (GRCm39) |
N292K |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,855,309 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,562,781 (GRCm39) |
N519D |
probably benign |
Het |
| Adsl |
A |
G |
15: 80,846,983 (GRCm39) |
H263R |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,299,000 (GRCm39) |
D1567V |
unknown |
Het |
| Bscl2 |
T |
C |
19: 8,823,914 (GRCm39) |
F280L |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,569,306 (GRCm39) |
T873S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,669 (GRCm39) |
|
probably null |
Het |
| Cast |
G |
T |
13: 74,956,577 (GRCm39) |
A18E |
unknown |
Het |
| Cd207 |
A |
C |
6: 83,654,830 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,203,678 (GRCm39) |
S130P |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,840,459 (GRCm39) |
N157K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chaf1b |
G |
T |
16: 93,681,268 (GRCm39) |
|
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,215,870 (GRCm39) |
I968V |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,833,466 (GRCm39) |
V362I |
probably benign |
Het |
| Crem |
A |
G |
18: 3,295,329 (GRCm39) |
S80P |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,063,390 (GRCm39) |
T267I |
probably damaging |
Het |
| Cyth1 |
A |
T |
11: 118,073,077 (GRCm39) |
N274K |
possibly damaging |
Het |
| Dicer1 |
C |
T |
12: 104,678,537 (GRCm39) |
G594S |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,521,180 (GRCm39) |
C849Y |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,622,979 (GRCm39) |
E1189G |
possibly damaging |
Het |
| Fermt1 |
C |
A |
2: 132,759,479 (GRCm39) |
V426L |
probably benign |
Het |
| Fes |
A |
G |
7: 80,028,524 (GRCm39) |
|
probably null |
Het |
| Gmeb1 |
C |
A |
4: 131,953,085 (GRCm39) |
L560F |
probably damaging |
Het |
| Hace1 |
T |
C |
10: 45,546,722 (GRCm39) |
L452P |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,943,502 (GRCm39) |
H975L |
probably damaging |
Het |
| Il1r2 |
T |
A |
1: 40,162,370 (GRCm39) |
C338S |
probably damaging |
Het |
| Iqcn |
T |
C |
8: 71,169,921 (GRCm39) |
I1337T |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 167,030,204 (GRCm39) |
S114G |
probably damaging |
Het |
| Lce1c |
A |
T |
3: 92,587,623 (GRCm39) |
T17S |
unknown |
Het |
| Lhfpl4 |
C |
A |
6: 113,153,627 (GRCm39) |
L141F |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,279,594 (GRCm39) |
E988G |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Neurod1 |
T |
A |
2: 79,285,290 (GRCm39) |
D31V |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,106,927 (GRCm39) |
C116R |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,928,537 (GRCm39) |
V28A |
probably benign |
Het |
| Odad1 |
A |
C |
7: 45,592,189 (GRCm39) |
Q323P |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,449 (GRCm39) |
V207A |
probably benign |
Het |
| Or5d44 |
T |
G |
2: 88,141,772 (GRCm39) |
M123L |
probably benign |
Het |
| Pabpc4l |
T |
A |
3: 46,401,024 (GRCm39) |
R207W |
probably damaging |
Het |
| Pabpc4l |
A |
T |
3: 46,400,687 (GRCm39) |
I319N |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,762,568 (GRCm39) |
D1371N |
probably damaging |
Het |
| Peg10 |
G |
GGTC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,706,867 (GRCm39) |
A557T |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,466,602 (GRCm39) |
V58D |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,046,959 (GRCm39) |
V259A |
probably benign |
Het |
| Psmd3 |
A |
T |
11: 98,576,466 (GRCm39) |
T123S |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,339,103 (GRCm39) |
|
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,141 (GRCm39) |
H66R |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,233,401 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
T |
A |
10: 74,865,628 (GRCm39) |
E70V |
possibly damaging |
Het |
| Slc24a5 |
G |
A |
2: 124,930,111 (GRCm39) |
V471I |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,988,515 (GRCm39) |
T862S |
probably benign |
Het |
| Ssbp2 |
T |
A |
13: 91,839,002 (GRCm39) |
D291E |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,023,197 (GRCm39) |
K329E |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,014,155 (GRCm39) |
K3115N |
probably damaging |
Het |
| Tars1 |
A |
T |
15: 11,392,095 (GRCm39) |
L239* |
probably null |
Het |
| Tbxa2r |
T |
C |
10: 81,168,625 (GRCm39) |
Y105H |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,743 (GRCm39) |
D265E |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,795,266 (GRCm39) |
D652G |
possibly damaging |
Het |
| Tsga10 |
T |
C |
1: 37,873,268 (GRCm39) |
R204G |
probably null |
Het |
| Twnk |
A |
G |
19: 45,000,219 (GRCm39) |
D645G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,217,122 (GRCm39) |
D1118V |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,238,071 (GRCm39) |
I83T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,685,574 (GRCm39) |
W2233R |
possibly damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,416 (GRCm39) |
T185S |
possibly damaging |
Het |
| Vmn2r111 |
G |
T |
17: 22,790,067 (GRCm39) |
T313K |
possibly damaging |
Het |
| Wdr4 |
A |
G |
17: 31,728,806 (GRCm39) |
L123S |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,386 (GRCm39) |
E957G |
possibly 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 |
|
|
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 |
PCR Primer
(F):5'- CCAGGAAGCATCAGAGGTTG -3'
(R):5'- TAAACAAGCCTGTACCAGCTATAAG -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation