Incidental Mutation 'R0385:Idh2'
| ID |
65497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh2
|
| Ensembl Gene |
ENSMUSG00000030541 |
| Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Synonyms |
Idh-2, IDPm |
| MMRRC Submission |
038591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,122,574 (GRCm39) |
N331S |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,142 (GRCm39) |
N189S |
probably benign |
Het |
| Apc |
T |
A |
18: 34,448,997 (GRCm39) |
N1930K |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,171,601 (GRCm39) |
D391G |
probably damaging |
Het |
| Atn1 |
G |
T |
6: 124,720,334 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,987,216 (GRCm39) |
E471G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,714,023 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42ep2 |
T |
A |
19: 5,968,553 (GRCm39) |
M51L |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,972,875 (GRCm39) |
A254T |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,433 (GRCm39) |
L1044H |
probably damaging |
Het |
| Dkk3 |
A |
C |
7: 111,757,430 (GRCm39) |
M58R |
probably damaging |
Het |
| Dpy19l3 |
G |
A |
7: 35,452,130 (GRCm39) |
R5W |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,416,711 (GRCm39) |
P871S |
probably damaging |
Het |
| Dusp1 |
A |
T |
17: 26,726,670 (GRCm39) |
S131T |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,745,555 (GRCm39) |
G314R |
probably damaging |
Het |
| Entr1 |
T |
C |
2: 26,277,671 (GRCm39) |
E41G |
possibly damaging |
Het |
| Fam222b |
C |
A |
11: 78,045,756 (GRCm39) |
P439Q |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,776,970 (GRCm39) |
I369F |
probably benign |
Het |
| Fdps |
G |
A |
3: 89,002,201 (GRCm39) |
S205F |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,663,773 (GRCm39) |
V252E |
possibly damaging |
Het |
| Frmd5 |
A |
G |
2: 121,386,055 (GRCm39) |
Y230H |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,171 (GRCm39) |
V88I |
probably benign |
Het |
| Gnptab |
T |
C |
10: 88,272,387 (GRCm39) |
I1009T |
probably damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,016 (GRCm39) |
D310E |
probably benign |
Het |
| Klk4 |
T |
C |
7: 43,533,432 (GRCm39) |
M97T |
probably benign |
Het |
| Krt82 |
C |
T |
15: 101,454,028 (GRCm39) |
V227M |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,587 (GRCm39) |
V226A |
probably damaging |
Het |
| Mbd1 |
AGCTGACTCGGTAC |
A |
18: 74,406,312 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
T |
C |
2: 5,008,965 (GRCm39) |
K335E |
possibly damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,030,611 (GRCm39) |
D62G |
possibly damaging |
Het |
| Nasp |
A |
T |
4: 116,467,892 (GRCm39) |
N364K |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,224,573 (GRCm39) |
N317D |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,005,777 (GRCm39) |
V619A |
possibly damaging |
Het |
| Oser1 |
C |
T |
2: 163,253,316 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,268 (GRCm39) |
F526S |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,055,967 (GRCm39) |
N444S |
probably damaging |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Pou2f2 |
G |
A |
7: 24,815,501 (GRCm39) |
Q89* |
probably null |
Het |
| Ptprb |
A |
G |
10: 116,186,083 (GRCm39) |
I1713V |
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,046,902 (GRCm39) |
Y442H |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,837,259 (GRCm39) |
I152N |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,823 (GRCm39) |
S1568P |
probably damaging |
Het |
| Rhag |
T |
A |
17: 41,145,618 (GRCm39) |
V357E |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,678,324 (GRCm39) |
D174E |
possibly damaging |
Het |
| Sf3b4 |
T |
C |
3: 96,080,298 (GRCm39) |
Y16H |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,668,619 (GRCm39) |
V449I |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,058,409 (GRCm39) |
I648M |
probably benign |
Het |
| Slc25a25 |
T |
A |
2: 32,307,834 (GRCm39) |
I254F |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,591,109 (GRCm39) |
H1307R |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,943,205 (GRCm39) |
M890I |
probably damaging |
Het |
| Supt16 |
A |
C |
14: 52,414,175 (GRCm39) |
M468R |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,916,817 (GRCm39) |
S56P |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,375,443 (GRCm39) |
|
probably null |
Het |
| Tmco3 |
T |
G |
8: 13,346,027 (GRCm39) |
C288W |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,830,911 (GRCm39) |
Y145H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,712,061 (GRCm39) |
|
probably benign |
Het |
| Usb1 |
G |
T |
8: 96,071,946 (GRCm39) |
W215C |
probably damaging |
Het |
| Usp2 |
C |
G |
9: 44,004,047 (GRCm39) |
T305R |
probably damaging |
Het |
| Vmn1r13 |
G |
A |
6: 57,187,690 (GRCm39) |
S283N |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,256,381 (GRCm39) |
K467E |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,221,604 (GRCm39) |
S1121Y |
probably damaging |
Het |
| Zbed6 |
A |
T |
1: 133,584,522 (GRCm39) |
D938E |
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 |
|
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 |
|
|
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 |
Incidental Mutation