Incidental Mutation 'R7254:Idh2'
ID |
574593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
MMRRC Submission |
045315-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7254 (G1)
|
Quality Score |
217.468 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TCCCAGGGCC to TCC
at 79748079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118184
(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 |
probably null
Transcript: ENSMUST00000134328
|
SMART Domains |
Protein: ENSMUSP00000118184 Gene: ENSMUSG00000030541
Domain | Start | End | E-Value | Type |
Iso_dh
|
49 |
284 |
1.59e-8 |
SMART |
|
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: 99.0%
|
Validation Efficiency |
98% (59/60) |
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 |
4931406B18Rik |
A |
T |
7: 43,147,623 (GRCm39) |
D249E |
probably damaging |
Het |
Acacb |
A |
C |
5: 114,347,812 (GRCm39) |
|
probably null |
Het |
Adnp |
A |
G |
2: 168,025,918 (GRCm39) |
V459A |
probably damaging |
Het |
Arid3b |
T |
C |
9: 57,704,037 (GRCm39) |
K304E |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,977,816 (GRCm39) |
R2713L |
probably damaging |
Het |
Bmpr1a |
A |
C |
14: 34,136,720 (GRCm39) |
D490E |
probably benign |
Het |
Cacna1g |
A |
T |
11: 94,323,393 (GRCm39) |
C1270* |
probably null |
Het |
Cep295nl |
G |
T |
11: 118,223,866 (GRCm39) |
P326Q |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,383,043 (GRCm39) |
I377V |
unknown |
Het |
Creb1 |
C |
T |
1: 64,615,436 (GRCm39) |
Q223* |
probably null |
Het |
Ctsc |
G |
A |
7: 87,958,767 (GRCm39) |
G349D |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,681,769 (GRCm39) |
R311* |
probably null |
Het |
Dpcd |
A |
G |
19: 45,565,473 (GRCm39) |
Q149R |
probably benign |
Het |
Dse |
T |
A |
10: 34,060,144 (GRCm39) |
|
probably benign |
Het |
Dync2i1 |
A |
G |
12: 116,226,205 (GRCm39) |
|
probably benign |
Het |
Eef2k |
C |
T |
7: 120,488,488 (GRCm39) |
H458Y |
probably benign |
Het |
Gipr |
A |
T |
7: 18,897,538 (GRCm39) |
V90E |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,009,189 (GRCm39) |
D22E |
probably damaging |
Het |
Gm21886 |
A |
T |
18: 80,132,950 (GRCm39) |
C69* |
probably null |
Het |
Gm5114 |
G |
A |
7: 39,058,390 (GRCm39) |
L410F |
probably benign |
Het |
Gmip |
T |
A |
8: 70,269,118 (GRCm39) |
|
probably null |
Het |
Gtf2f1 |
T |
C |
17: 57,314,101 (GRCm39) |
T128A |
possibly damaging |
Het |
Hnrnpr |
A |
G |
4: 136,059,886 (GRCm39) |
E330G |
possibly damaging |
Het |
Hoxd9 |
T |
A |
2: 74,528,718 (GRCm39) |
W107R |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,876,554 (GRCm39) |
|
probably null |
Het |
Ifi213 |
G |
T |
1: 173,421,529 (GRCm39) |
P120Q |
probably damaging |
Het |
Il6 |
A |
T |
5: 30,219,906 (GRCm39) |
Q94L |
probably benign |
Het |
Kcnab1 |
A |
G |
3: 65,226,908 (GRCm39) |
S196G |
probably benign |
Het |
Kcnv1 |
C |
T |
15: 44,976,604 (GRCm39) |
V228I |
probably benign |
Het |
Lars2 |
A |
G |
9: 123,284,028 (GRCm39) |
T739A |
possibly damaging |
Het |
Med13 |
T |
C |
11: 86,210,661 (GRCm39) |
S494G |
probably benign |
Het |
Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
Myh9 |
T |
G |
15: 77,650,024 (GRCm39) |
Q1646P |
probably damaging |
Het |
Nif3l1 |
T |
A |
1: 58,489,625 (GRCm39) |
S171R |
probably benign |
Het |
Or13n4 |
A |
G |
7: 106,422,777 (GRCm39) |
*319Q |
probably null |
Het |
Or1e1c |
A |
G |
11: 73,266,201 (GRCm39) |
I212V |
probably benign |
Het |
Or1r1 |
A |
G |
11: 73,874,603 (GRCm39) |
V277A |
probably benign |
Het |
Or51f23 |
A |
G |
7: 102,452,765 (GRCm39) |
T27A |
probably benign |
Het |
Or5b113 |
A |
T |
19: 13,342,475 (GRCm39) |
D161V |
probably benign |
Het |
Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
Or8c8 |
T |
C |
9: 38,164,719 (GRCm39) |
M2T |
probably benign |
Het |
Pak5 |
A |
T |
2: 135,958,684 (GRCm39) |
S135T |
possibly damaging |
Het |
Prr29 |
A |
T |
11: 106,265,684 (GRCm39) |
M1L |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,742,502 (GRCm39) |
V2407E |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,741,978 (GRCm39) |
H1310L |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,538,767 (GRCm39) |
S393G |
unknown |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Ror2 |
A |
G |
13: 53,272,756 (GRCm39) |
I303T |
possibly damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,447,921 (GRCm39) |
D1378N |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,821,188 (GRCm39) |
C91S |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,889,790 (GRCm39) |
I677V |
probably benign |
Het |
Tada1 |
T |
A |
1: 166,216,217 (GRCm39) |
C139* |
probably null |
Het |
Tbr1 |
T |
A |
2: 61,636,386 (GRCm39) |
V254E |
probably damaging |
Het |
Timd4 |
A |
T |
11: 46,734,016 (GRCm39) |
I340F |
probably benign |
Het |
Tubb2a |
T |
C |
13: 34,258,515 (GRCm39) |
Y425C |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,819,476 (GRCm39) |
M287K |
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 |
|
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 |
2019-09-18 |