Incidental Mutation 'R7561:Idh2'
ID |
585124 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
MMRRC Submission |
045654-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7561 (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]
[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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
A |
13: 77,341,314 (GRCm39) |
N314K |
probably benign |
Het |
A430005L14Rik |
T |
A |
4: 154,045,097 (GRCm39) |
I80N |
probably benign |
Het |
Abca2 |
A |
G |
2: 25,336,707 (GRCm39) |
H2271R |
probably damaging |
Het |
Acad8 |
T |
C |
9: 26,890,538 (GRCm39) |
I257V |
probably benign |
Het |
Acot12 |
A |
T |
13: 91,918,243 (GRCm39) |
T179S |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,386,741 (GRCm39) |
R1155G |
possibly damaging |
Het |
Adcy9 |
C |
T |
16: 4,236,028 (GRCm39) |
C461Y |
probably damaging |
Het |
Adgrf1 |
G |
A |
17: 43,622,000 (GRCm39) |
V746I |
possibly damaging |
Het |
Agbl1 |
C |
A |
7: 76,348,509 (GRCm39) |
Q869K |
unknown |
Het |
AI837181 |
T |
G |
19: 5,476,491 (GRCm39) |
V218G |
probably damaging |
Het |
Alg9 |
T |
C |
9: 50,754,074 (GRCm39) |
S585P |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,866,489 (GRCm39) |
Q216R |
|
Het |
Asb4 |
A |
T |
6: 5,430,968 (GRCm39) |
H401L |
possibly damaging |
Het |
Atg7 |
G |
T |
6: 114,650,002 (GRCm39) |
A60S |
possibly damaging |
Het |
Atp10a |
T |
A |
7: 58,476,881 (GRCm39) |
C1199S |
probably damaging |
Het |
Blm |
G |
A |
7: 80,152,276 (GRCm39) |
A557V |
probably damaging |
Het |
Cbln1 |
A |
T |
8: 88,198,624 (GRCm39) |
M82K |
probably benign |
Het |
Ccdc183 |
T |
G |
2: 25,501,529 (GRCm39) |
I293L |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,703,463 (GRCm39) |
S3035P |
unknown |
Het |
Cux2 |
A |
T |
5: 122,017,931 (GRCm39) |
S206T |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,161,425 (GRCm39) |
D355G |
probably benign |
Het |
Dhrs2 |
A |
G |
14: 55,474,698 (GRCm39) |
H111R |
probably benign |
Het |
Eif3b |
T |
G |
5: 140,428,109 (GRCm39) |
D781E |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,758,008 (GRCm39) |
I469N |
probably benign |
Het |
Fgf20 |
G |
T |
8: 40,732,975 (GRCm39) |
N154K |
possibly damaging |
Het |
Fndc10 |
T |
A |
4: 155,779,328 (GRCm39) |
V124E |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,210,324 (GRCm39) |
D13G |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 35,008,800 (GRCm39) |
S74P |
probably damaging |
Het |
Gramd1b |
G |
A |
9: 40,312,911 (GRCm39) |
T19I |
unknown |
Het |
Grm8 |
T |
C |
6: 27,429,524 (GRCm39) |
T457A |
probably benign |
Het |
Gucy2g |
C |
A |
19: 55,194,772 (GRCm39) |
V882L |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,429,288 (GRCm39) |
R811H |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,116,807 (GRCm39) |
|
probably null |
Het |
Il10ra |
T |
A |
9: 45,167,117 (GRCm39) |
D480V |
probably benign |
Het |
Il18rap |
A |
T |
1: 40,563,537 (GRCm39) |
H22L |
probably benign |
Het |
Inpp5a |
T |
A |
7: 139,147,338 (GRCm39) |
I321N |
probably damaging |
Het |
Insyn1 |
A |
G |
9: 58,406,687 (GRCm39) |
D199G |
probably damaging |
Het |
Kat2b |
T |
G |
17: 53,948,286 (GRCm39) |
L352R |
probably benign |
Het |
Katnip |
C |
T |
7: 125,441,894 (GRCm39) |
S627L |
probably benign |
Het |
Kcna1 |
A |
T |
6: 126,619,108 (GRCm39) |
V404E |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,328,712 (GRCm39) |
V1110E |
possibly damaging |
Het |
Moxd2 |
C |
T |
6: 40,864,337 (GRCm39) |
R31H |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,225,388 (GRCm39) |
N1368K |
probably damaging |
Het |
Mpzl3 |
G |
T |
9: 44,966,610 (GRCm39) |
V24F |
probably benign |
Het |
Mybph |
G |
A |
1: 134,121,465 (GRCm39) |
|
probably null |
Het |
Ncam1 |
G |
T |
9: 49,476,242 (GRCm39) |
D282E |
probably damaging |
Het |
Ntrk2 |
G |
A |
13: 59,009,202 (GRCm39) |
C331Y |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,964,434 (GRCm39) |
C1339* |
probably null |
Het |
Or3a1d |
T |
C |
11: 74,238,436 (GRCm39) |
|
probably benign |
Het |
Or5b98 |
T |
C |
19: 12,931,403 (GRCm39) |
V150A |
probably benign |
Het |
Or8k33 |
T |
C |
2: 86,383,661 (GRCm39) |
D269G |
probably benign |
Het |
Osbpl6 |
C |
A |
2: 76,416,498 (GRCm39) |
T672N |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,662,783 (GRCm39) |
|
probably null |
Het |
Perm1 |
A |
G |
4: 156,303,217 (GRCm39) |
N587S |
probably benign |
Het |
Pex7 |
A |
T |
10: 19,770,012 (GRCm39) |
C165* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,564,446 (GRCm39) |
T1347A |
possibly damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,942,008 (GRCm39) |
D933G |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,332,545 (GRCm39) |
F2586I |
|
Het |
Scn10a |
A |
G |
9: 119,523,390 (GRCm39) |
M1T |
probably null |
Het |
Sdhaf3 |
T |
A |
6: 6,956,079 (GRCm39) |
L18Q |
not run |
Het |
Septin7 |
A |
G |
9: 25,209,151 (GRCm39) |
E256G |
possibly damaging |
Het |
Slc35b2 |
A |
G |
17: 45,877,727 (GRCm39) |
T236A |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,347,556 (GRCm39) |
G766R |
probably damaging |
Het |
Slco6c1 |
G |
T |
1: 97,000,691 (GRCm39) |
S537Y |
probably damaging |
Het |
Srp68 |
T |
C |
11: 116,139,593 (GRCm39) |
E452G |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,919,229 (GRCm39) |
M382K |
probably benign |
Het |
Tas2r131 |
A |
G |
6: 132,933,921 (GRCm39) |
L296P |
probably benign |
Het |
Tlr9 |
A |
G |
9: 106,103,148 (GRCm39) |
E813G |
probably benign |
Het |
Trmt44 |
T |
C |
5: 35,715,336 (GRCm39) |
E659G |
possibly damaging |
Het |
Ttc21b |
G |
A |
2: 66,047,548 (GRCm39) |
A849V |
possibly damaging |
Het |
Unc45a |
G |
T |
7: 79,981,334 (GRCm39) |
S489R |
possibly damaging |
Het |
Xrn1 |
T |
C |
9: 95,881,511 (GRCm39) |
V795A |
probably benign |
Het |
Zbtb22 |
A |
T |
17: 34,136,952 (GRCm39) |
T366S |
probably benign |
Het |
Zcchc10 |
T |
A |
11: 53,215,545 (GRCm39) |
H6Q |
probably benign |
Het |
Zfp60 |
A |
G |
7: 27,447,955 (GRCm39) |
K208E |
probably damaging |
Het |
Zfp780b |
A |
T |
7: 27,664,037 (GRCm39) |
C173S |
possibly damaging |
Het |
Zfp786 |
C |
A |
6: 47,796,667 (GRCm39) |
R757L |
probably benign |
Het |
Zfp936 |
G |
A |
7: 42,839,339 (GRCm39) |
A269T |
probably damaging |
Het |
Zfp976 |
T |
C |
7: 42,265,701 (GRCm39) |
Y29C |
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 |
|
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'- GAAGCATCAGAGGTTGTTACTTGTC -3'
(R):5'- GCTTAAACAAGCCTGTACCAGC -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
|
Posted On |
2019-10-17 |