Incidental Mutation 'R5387:Idh2'
ID |
425333 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
MMRRC Submission |
042959-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5387 (G1)
|
Quality Score |
217 |
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]
[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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
99% (80/81) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,408,092 (GRCm39) |
S140T |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,981,055 (GRCm39) |
S780P |
probably damaging |
Het |
Ankhd1 |
C |
A |
18: 36,767,697 (GRCm39) |
H1205N |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,202,356 (GRCm39) |
K139R |
probably benign |
Het |
Anp32b |
T |
G |
4: 46,468,573 (GRCm39) |
C114W |
probably damaging |
Het |
Ascl1 |
C |
T |
10: 87,328,551 (GRCm39) |
A134T |
probably damaging |
Het |
Atl2 |
C |
T |
17: 80,160,229 (GRCm39) |
E453K |
probably benign |
Het |
Aup1 |
C |
T |
6: 83,032,005 (GRCm39) |
A84V |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,804,044 (GRCm39) |
M332K |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,822,708 (GRCm39) |
V1107A |
probably damaging |
Het |
Cd33 |
G |
A |
7: 43,181,477 (GRCm39) |
Q114* |
probably null |
Het |
Cdhr18 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Defb22 |
C |
A |
2: 152,327,826 (GRCm39) |
A120S |
unknown |
Het |
Dnah7b |
A |
G |
1: 46,227,819 (GRCm39) |
I1347M |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 77,025,668 (GRCm39) |
I549T |
possibly damaging |
Het |
Esp15 |
T |
A |
17: 39,955,468 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
A |
G |
10: 85,860,518 (GRCm39) |
T42A |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,725,556 (GRCm39) |
I1021T |
probably benign |
Het |
Gad1 |
C |
A |
2: 70,394,195 (GRCm39) |
S7* |
probably null |
Het |
H2ac7 |
T |
A |
13: 23,758,841 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
C |
T |
17: 35,658,518 (GRCm39) |
T52M |
probably damaging |
Het |
H2-T3 |
C |
T |
17: 36,497,594 (GRCm39) |
G28R |
probably benign |
Het |
Ift81 |
A |
G |
5: 122,693,598 (GRCm39) |
Y604H |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,842,785 (GRCm39) |
Y154C |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,742,441 (GRCm39) |
A846S |
probably benign |
Het |
Lnx2 |
G |
A |
5: 146,964,964 (GRCm39) |
P420S |
probably benign |
Het |
Lrit2 |
A |
G |
14: 36,794,216 (GRCm39) |
T427A |
probably damaging |
Het |
Lrrc43 |
G |
T |
5: 123,637,734 (GRCm39) |
|
probably null |
Het |
Mettl25b |
A |
T |
3: 87,837,318 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
C |
6: 121,861,353 (GRCm39) |
Y1325H |
probably damaging |
Het |
Naglu |
A |
T |
11: 100,967,550 (GRCm39) |
Y500F |
probably damaging |
Het |
Npy4r |
A |
G |
14: 33,868,940 (GRCm39) |
M116T |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,896,959 (GRCm39) |
Y526C |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,801,972 (GRCm39) |
S472P |
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,625,183 (GRCm39) |
T31S |
probably benign |
Het |
Or12k8 |
T |
C |
2: 36,975,731 (GRCm39) |
T10A |
possibly damaging |
Het |
Otogl |
T |
A |
10: 107,616,794 (GRCm39) |
T1828S |
probably benign |
Het |
Pank2 |
C |
T |
2: 131,116,182 (GRCm39) |
T200I |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,804,567 (GRCm39) |
Y946C |
probably damaging |
Het |
Pde12 |
A |
T |
14: 26,387,608 (GRCm39) |
S437T |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,304,427 (GRCm39) |
K1710E |
possibly damaging |
Het |
Plcd3 |
A |
G |
11: 102,969,281 (GRCm39) |
S229P |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Prkaa2 |
C |
A |
4: 104,897,374 (GRCm39) |
D280Y |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,321,303 (GRCm39) |
S620P |
probably damaging |
Het |
Rab33b |
A |
G |
3: 51,400,876 (GRCm39) |
T117A |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 156,985,335 (GRCm39) |
D804G |
possibly damaging |
Het |
Rbp3 |
A |
G |
14: 33,678,370 (GRCm39) |
T773A |
possibly damaging |
Het |
Rspry1 |
A |
G |
8: 95,364,914 (GRCm39) |
T185A |
possibly damaging |
Het |
Sec61a2 |
G |
T |
2: 5,887,356 (GRCm39) |
|
probably benign |
Het |
Setx |
C |
T |
2: 29,037,606 (GRCm39) |
R1364C |
probably benign |
Het |
Shtn1 |
G |
T |
19: 59,026,801 (GRCm39) |
L97M |
probably damaging |
Het |
Slc35f1 |
T |
C |
10: 52,984,260 (GRCm39) |
L340P |
probably damaging |
Het |
Slc45a1 |
T |
A |
4: 150,728,366 (GRCm39) |
|
probably benign |
Het |
Slmap |
T |
C |
14: 26,181,088 (GRCm39) |
E386G |
probably benign |
Het |
Smc2 |
C |
T |
4: 52,475,096 (GRCm39) |
A924V |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Tecta |
G |
A |
9: 42,286,359 (GRCm39) |
L766F |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,314,771 (GRCm39) |
|
probably null |
Het |
Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
Trappc2b |
A |
T |
11: 51,576,801 (GRCm39) |
D32E |
probably benign |
Het |
Trem1 |
T |
C |
17: 48,548,541 (GRCm39) |
I26T |
possibly damaging |
Het |
Ttc7b |
G |
T |
12: 100,413,222 (GRCm39) |
Q199K |
possibly damaging |
Het |
Ubap2l |
T |
C |
3: 89,913,903 (GRCm39) |
Y975C |
probably benign |
Het |
Ubxn11 |
C |
A |
4: 133,850,737 (GRCm39) |
D196E |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,569,180 (GRCm39) |
H945R |
possibly damaging |
Het |
Usp15 |
A |
G |
10: 122,967,191 (GRCm39) |
I405T |
probably damaging |
Het |
Uty |
C |
T |
Y: 1,189,339 (GRCm39) |
E138K |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,399,252 (GRCm39) |
E107G |
probably benign |
Het |
Wbp1l |
T |
C |
19: 46,632,896 (GRCm39) |
|
probably null |
Het |
Zfp184 |
T |
G |
13: 22,133,810 (GRCm39) |
|
probably benign |
Het |
Zfp36 |
A |
C |
7: 28,077,293 (GRCm39) |
L205R |
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 |
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 |
PCR Primer
(F):5'- GCATCAGAGGTTGTTACTTGTC -3'
(R):5'- AGTAGGCGGCTTAAACAAGC -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
|
Posted On |
2016-08-04 |