Incidental Mutation 'R7076:Idh2'
| ID |
549214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh2
|
| Ensembl Gene |
ENSMUSG00000030541 |
| Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Synonyms |
Idh-2, IDPm |
| MMRRC Submission |
045171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7076 (G1)
|
| Quality Score |
217.477 |
|
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]
[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: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
G |
8: 56,324,694 (GRCm39) |
C587R |
probably damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,562,769 (GRCm39) |
T523A |
probably damaging |
Het |
| Arrdc3 |
A |
T |
13: 81,038,815 (GRCm39) |
K259M |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,186,150 (GRCm39) |
N151K |
probably benign |
Het |
| Cars2 |
C |
T |
8: 11,579,649 (GRCm39) |
E270K |
probably damaging |
Het |
| Ccp110 |
C |
A |
7: 118,331,628 (GRCm39) |
P943Q |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,661,786 (GRCm39) |
I466T |
probably benign |
Het |
| Cd164 |
A |
G |
10: 41,399,193 (GRCm39) |
E94G |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,415,446 (GRCm39) |
T1228I |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,311,091 (GRCm39) |
V3145L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,311,092 (GRCm39) |
K3144N |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,078 (GRCm39) |
V1649A |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,569,452 (GRCm39) |
D153E |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,055,853 (GRCm39) |
|
probably null |
Het |
| Dnajc21 |
T |
C |
15: 10,449,717 (GRCm39) |
T435A |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,543 (GRCm39) |
I209F |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,540 (GRCm39) |
S111I |
possibly damaging |
Het |
| Gm19965 |
T |
C |
1: 116,749,005 (GRCm39) |
C229R |
|
Het |
| Gpm6a |
C |
T |
8: 55,490,486 (GRCm39) |
T54I |
probably damaging |
Het |
| Gpr171 |
G |
T |
3: 59,005,577 (GRCm39) |
A66E |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,113 (GRCm39) |
D508G |
probably benign |
Het |
| Has1 |
G |
A |
17: 18,064,068 (GRCm39) |
R524C |
probably damaging |
Het |
| Ighv3-8 |
A |
T |
12: 114,286,402 (GRCm39) |
L7Q |
probably damaging |
Het |
| Ints10 |
A |
T |
8: 69,249,403 (GRCm39) |
R78* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,365,257 (GRCm39) |
I903V |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,386,052 (GRCm39) |
|
probably null |
Het |
| Mki67 |
A |
G |
7: 135,307,358 (GRCm39) |
V132A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,999 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Neurog3 |
A |
G |
10: 61,969,359 (GRCm39) |
T40A |
probably benign |
Het |
| Nipsnap3b |
T |
A |
4: 53,021,095 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
G |
A |
4: 48,055,957 (GRCm39) |
V328I |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,278 (GRCm39) |
Y136* |
probably null |
Het |
| Or2d36 |
T |
C |
7: 106,747,236 (GRCm39) |
F238L |
probably damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,430 (GRCm39) |
S140C |
probably damaging |
Het |
| Or5af2 |
G |
A |
11: 58,707,990 (GRCm39) |
R52Q |
probably benign |
Het |
| Or5b124 |
G |
T |
19: 13,611,244 (GRCm39) |
M256I |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,205 (GRCm39) |
V177D |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,263,577 (GRCm39) |
L102P |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,917,983 (GRCm39) |
R503Q |
probably damaging |
Het |
| Ppp2r2d |
T |
C |
7: 138,478,326 (GRCm39) |
M321T |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,475,302 (GRCm39) |
Y197C |
probably damaging |
Het |
| Prss32 |
A |
G |
17: 24,072,895 (GRCm39) |
D42G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,768,361 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,591 (GRCm39) |
C234R |
probably damaging |
Het |
| Slc23a4 |
A |
G |
6: 34,933,819 (GRCm39) |
S95P |
probably damaging |
Het |
| Srp14 |
T |
C |
2: 118,309,871 (GRCm39) |
T29A |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,784 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Tfr2 |
A |
T |
5: 137,581,836 (GRCm39) |
Y641F |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,117,766 (GRCm39) |
N27D |
probably damaging |
Het |
| Tvp23a |
T |
C |
16: 10,246,599 (GRCm39) |
D62G |
probably benign |
Het |
| Usp12 |
A |
G |
5: 146,674,562 (GRCm39) |
F347S |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,576,601 (GRCm39) |
L1504Q |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,020,895 (GRCm39) |
D141G |
possibly damaging |
Het |
| Zfp68 |
A |
G |
5: 138,605,201 (GRCm39) |
I374T |
possibly damaging |
Het |
| Zfp758 |
C |
T |
17: 22,594,137 (GRCm39) |
H208Y |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,819,751 (GRCm39) |
H1104R |
probably benign |
Het |
| Znrf2 |
T |
A |
6: 54,819,680 (GRCm39) |
*75K |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,790,385 (GRCm39) |
V2113A |
probably benign |
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 |
|
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'- GAGGTTGTTACTTGTCAAAGATCTCC -3'
(R):5'- CAGTAGGCGGCTTAAACAAGC -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation