Incidental Mutation 'R9111:Idh2'
| ID |
692251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh2
|
| Ensembl Gene |
ENSMUSG00000030541 |
| Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Synonyms |
Idh-2, IDPm |
| MMRRC Submission |
068971-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9111 (G1)
|
| Quality Score |
217.468 |
|
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,696,646 (GRCm39) |
N210S |
|
Het |
| Adamts17 |
A |
G |
7: 66,489,648 (GRCm39) |
D22G |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,971,797 (GRCm39) |
E58G |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,311,534 (GRCm39) |
A1830T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,340 (GRCm39) |
V4118A |
probably damaging |
Het |
| Ccdc28a |
G |
A |
10: 18,100,750 (GRCm39) |
P73S |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,284,903 (GRCm39) |
D771E |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,315,985 (GRCm39) |
P13S |
possibly damaging |
Het |
| Cdr2 |
G |
A |
7: 120,559,345 (GRCm39) |
S158F |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,252,326 (GRCm39) |
T812S |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cp |
A |
T |
3: 20,027,949 (GRCm39) |
I452F |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,585,488 (GRCm39) |
I2F |
probably damaging |
Het |
| Dlat |
G |
A |
9: 50,570,906 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,601,017 (GRCm39) |
D984G |
possibly damaging |
Het |
| Dsc2 |
T |
C |
18: 20,167,764 (GRCm39) |
I710V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,252,122 (GRCm39) |
E20G |
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,679 (GRCm39) |
Y380C |
probably damaging |
Het |
| Fscn3 |
A |
G |
6: 28,430,310 (GRCm39) |
D160G |
probably damaging |
Het |
| Gm9195 |
G |
A |
14: 72,694,123 (GRCm39) |
Q1531* |
probably null |
Het |
| Hps3 |
T |
C |
3: 20,084,575 (GRCm39) |
|
probably null |
Het |
| Igsf1 |
C |
T |
X: 48,875,736 (GRCm39) |
E755K |
probably null |
Het |
| Kalrn |
A |
G |
16: 34,181,371 (GRCm39) |
V89A |
probably damaging |
Het |
| Kcng1 |
C |
A |
2: 168,104,535 (GRCm39) |
G437V |
probably damaging |
Het |
| Krt82 |
C |
T |
15: 101,451,786 (GRCm39) |
R343Q |
probably benign |
Het |
| Lbr |
T |
C |
1: 181,645,068 (GRCm39) |
D528G |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,406,819 (GRCm39) |
E256G |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,381,285 (GRCm39) |
|
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
| Myrf |
A |
G |
19: 10,191,421 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,280,585 (GRCm39) |
T82S |
possibly damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,055 (GRCm39) |
V82I |
probably benign |
Het |
| P2rx6 |
G |
T |
16: 17,385,627 (GRCm39) |
W176L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,454,657 (GRCm39) |
E108G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,993,531 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,131 (GRCm39) |
E328G |
probably benign |
Het |
| Prmt1 |
A |
C |
7: 44,631,169 (GRCm39) |
V114G |
probably damaging |
Het |
| Rnf133 |
G |
A |
6: 23,648,928 (GRCm39) |
H334Y |
probably benign |
Het |
| Rps18-ps5 |
T |
A |
13: 28,441,626 (GRCm39) |
L3Q |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,602,206 (GRCm39) |
S385P |
probably benign |
Het |
| Sel1l3 |
A |
T |
5: 53,279,213 (GRCm39) |
|
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
CCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGC |
4: 126,915,401 (GRCm39) |
|
probably benign |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Slc5a4b |
A |
T |
10: 75,925,827 (GRCm39) |
|
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,298,920 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,306,333 (GRCm39) |
F161L |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,685,984 (GRCm39) |
I451T |
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 |
|
|
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 |
|
|
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'- CCAGGAAGCATCAGAGGTTG -3'
(R):5'- TAAACAAGCCTGTACCAGCTATAAG -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation