Incidental Mutation 'R0040:Idh2'
| ID |
18572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh2
|
| Ensembl Gene |
ENSMUSG00000030541 |
| Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Synonyms |
Idh-2, IDPm |
| MMRRC Submission |
038334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0040 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79747570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 317
(S317P)
|
| 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: S317P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541
AA Change: S317P
| 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
|
| Meta Mutation Damage Score |
0.9749 |
| Coding Region Coverage |
- 1x: 84.2%
- 3x: 77.3%
- 10x: 61.4%
- 20x: 43.8%
|
| Validation Efficiency |
96% (74/77) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,622,165 (GRCm39) |
L356R |
possibly damaging |
Het |
| Antxr2 |
G |
A |
5: 98,086,284 (GRCm39) |
T441I |
possibly damaging |
Het |
| Apcs |
A |
G |
1: 172,722,023 (GRCm39) |
Y108H |
probably benign |
Het |
| Arpp21 |
T |
C |
9: 111,976,477 (GRCm39) |
|
probably benign |
Het |
| Atcay |
C |
T |
10: 81,046,353 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,159,196 (GRCm39) |
D141G |
probably damaging |
Het |
| Cacng5 |
A |
T |
11: 107,775,336 (GRCm39) |
L11Q |
probably damaging |
Het |
| Ccdc73 |
T |
C |
2: 104,822,429 (GRCm39) |
S793P |
probably damaging |
Het |
| Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,497,212 (GRCm39) |
P3062S |
probably damaging |
Het |
| Dctn4 |
A |
G |
18: 60,677,114 (GRCm39) |
N145D |
possibly damaging |
Het |
| Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,691,371 (GRCm39) |
T671A |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,205,734 (GRCm39) |
T709S |
possibly damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
| Ifi30 |
T |
C |
8: 71,216,421 (GRCm39) |
|
probably null |
Het |
| Ifna16 |
G |
A |
4: 88,594,867 (GRCm39) |
A76V |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,246,638 (GRCm39) |
E1127K |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,667,457 (GRCm39) |
V330A |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,192,401 (GRCm39) |
Y131C |
probably damaging |
Het |
| Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
| Lox |
A |
T |
18: 52,653,898 (GRCm39) |
H399Q |
possibly damaging |
Het |
| Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
| Mpp7 |
A |
T |
18: 7,403,180 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,821,148 (GRCm39) |
I451N |
probably damaging |
Het |
| Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,496,320 (GRCm39) |
H317R |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,661,665 (GRCm39) |
D536G |
probably damaging |
Het |
| Pira6 |
A |
G |
7: 4,284,482 (GRCm39) |
|
noncoding transcript |
Het |
| Pkhd1l1 |
T |
A |
15: 44,437,021 (GRCm39) |
Y3460N |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
| Rnf168 |
T |
A |
16: 32,096,991 (GRCm39) |
|
probably null |
Het |
| Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
| Scara5 |
C |
T |
14: 66,000,166 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
| Synpr |
G |
A |
14: 13,563,024 (GRCm38) |
A86T |
probably damaging |
Het |
| Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,638 (GRCm39) |
I303M |
probably damaging |
Het |
| Zc3h12d |
G |
A |
10: 7,743,678 (GRCm39) |
A483T |
probably benign |
Het |
| Zfp106 |
C |
A |
2: 120,362,094 (GRCm39) |
K1008N |
probably damaging |
Het |
| Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
Het |
| Zfp867 |
C |
T |
11: 59,354,691 (GRCm39) |
A213T |
possibly damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,579,090 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation