Incidental Mutation 'R8725:Idh2'
| ID |
673184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh2
|
| Ensembl Gene |
ENSMUSG00000030541 |
| Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Synonyms |
Idh-2, IDPm |
| MMRRC Submission |
068574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8725 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TCCCAGGGCC to TCC
at 79748079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118184
(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 |
probably null
Transcript: ENSMUST00000134328
|
| SMART Domains |
Protein: ENSMUSP00000118184
Gene: ENSMUSG00000030541
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
49 |
284 |
1.59e-8 |
SMART |
|
| 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: 99.8%
- 20x: 99.5%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
A |
14: 103,287,075 (GRCm39) |
W69R |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,792,743 (GRCm39) |
V1328E |
possibly damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,356 (GRCm39) |
H244R |
possibly damaging |
Het |
| Camk1 |
C |
A |
6: 113,315,109 (GRCm39) |
V199L |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,328,283 (GRCm39) |
K661I |
possibly damaging |
Het |
| Cdh16 |
C |
T |
8: 105,344,874 (GRCm39) |
V444I |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,243,715 (GRCm39) |
Y1580* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,362,663 (GRCm39) |
N339Y |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Deup1 |
T |
A |
9: 15,503,721 (GRCm39) |
D280V |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,113,019 (GRCm39) |
D1557V |
probably benign |
Het |
| Ext1 |
A |
G |
15: 53,208,065 (GRCm39) |
V232A |
possibly damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,105,726 (GRCm39) |
I514T |
possibly damaging |
Het |
| Gm14443 |
A |
T |
2: 175,010,693 (GRCm39) |
C584* |
probably null |
Het |
| Gm2696 |
T |
A |
10: 77,672,034 (GRCm39) |
C78S |
unknown |
Het |
| Gm4131 |
T |
C |
14: 62,701,300 (GRCm39) |
D276G |
possibly damaging |
Het |
| Gm5114 |
C |
T |
7: 39,060,657 (GRCm39) |
G64D |
probably benign |
Het |
| Gsx2 |
G |
T |
5: 75,236,755 (GRCm39) |
A112S |
probably benign |
Het |
| Hebp1 |
G |
T |
6: 135,114,919 (GRCm39) |
R181S |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,488,557 (GRCm39) |
G3616D |
probably damaging |
Het |
| Hemgn |
T |
G |
4: 46,394,638 (GRCm39) |
T491P |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,636,721 (GRCm39) |
S723P |
unknown |
Het |
| Kat6a |
G |
A |
8: 23,398,293 (GRCm39) |
G287D |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,907,757 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
C |
A |
7: 140,778,246 (GRCm39) |
D79E |
possibly damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,544,303 (GRCm39) |
Q34* |
probably null |
Het |
| Mlxipl |
A |
G |
5: 135,157,483 (GRCm39) |
M340V |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,756,563 (GRCm39) |
T604A |
possibly damaging |
Het |
| Or13a26 |
G |
T |
7: 140,284,607 (GRCm39) |
V148L |
probably benign |
Het |
| Or1n1 |
T |
A |
2: 36,749,610 (GRCm39) |
Y250F |
probably damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,658 (GRCm39) |
S115T |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,710,884 (GRCm39) |
V1022G |
unknown |
Het |
| Pank1 |
T |
G |
19: 34,855,989 (GRCm39) |
H163P |
possibly damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,154,736 (GRCm39) |
Q485R |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,734 (GRCm39) |
S655R |
probably damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,814,467 (GRCm39) |
C319* |
probably null |
Het |
| Pipox |
A |
T |
11: 77,774,804 (GRCm39) |
L93* |
probably null |
Het |
| Pkd1l1 |
A |
C |
11: 8,911,482 (GRCm39) |
V265G |
|
Het |
| Pld3 |
G |
A |
7: 27,239,079 (GRCm39) |
Q149* |
probably null |
Het |
| Pramel34 |
A |
T |
5: 93,784,316 (GRCm39) |
Y383N |
probably damaging |
Het |
| Prpf3 |
T |
A |
3: 95,748,021 (GRCm39) |
T415S |
possibly damaging |
Het |
| Rasgef1b |
G |
A |
5: 99,447,895 (GRCm39) |
T105I |
unknown |
Het |
| Rere |
G |
T |
4: 150,701,792 (GRCm39) |
E24* |
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Ric3 |
A |
T |
7: 108,637,924 (GRCm39) |
D277E |
probably benign |
Het |
| Rnf44 |
A |
T |
13: 54,831,826 (GRCm39) |
M82K |
probably damaging |
Het |
| Rsph14 |
T |
C |
10: 74,795,516 (GRCm39) |
N223S |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,415,396 (GRCm39) |
E234G |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,642,900 (GRCm39) |
N349S |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,555,822 (GRCm39) |
C183Y |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,402,912 (GRCm39) |
I74T |
|
Het |
| Slc39a12 |
T |
C |
2: 14,454,670 (GRCm39) |
S563P |
probably damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,315,454 (GRCm39) |
D526V |
probably damaging |
Het |
| Smpdl3b |
G |
T |
4: 132,461,060 (GRCm39) |
T339N |
probably damaging |
Het |
| Speer1e |
A |
T |
5: 11,236,408 (GRCm39) |
Q147L |
probably benign |
Het |
| Spi1 |
G |
A |
2: 90,945,516 (GRCm39) |
G199D |
probably damaging |
Het |
| Stx2 |
T |
C |
5: 129,070,564 (GRCm39) |
T118A |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,088,015 (GRCm39) |
S1355R |
possibly damaging |
Het |
| Taf15 |
A |
G |
11: 83,389,964 (GRCm39) |
T245A |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,760,653 (GRCm39) |
A120V |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,370,934 (GRCm39) |
G198W |
probably damaging |
Het |
| Wdtc1 |
G |
T |
4: 133,041,114 (GRCm39) |
H46N |
probably damaging |
Het |
| Zbtb1 |
C |
A |
12: 76,432,646 (GRCm39) |
R211S |
probably damaging |
Het |
| Zc3h8 |
A |
G |
2: 128,775,207 (GRCm39) |
V151A |
probably benign |
Het |
| Zfp219 |
T |
C |
14: 52,244,899 (GRCm39) |
T499A |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,940 (GRCm39) |
F31L |
probably damaging |
Het |
| Zfp879 |
C |
T |
11: 50,729,321 (GRCm39) |
D26N |
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 |
|
|
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'- AAACAAGCCTGTACCAGCTATAAGG -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation