Incidental Mutation 'R8671:Idh2'
ID |
661160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
MMRRC Submission |
068526-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8671 (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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (48/48) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
C |
T |
4: 73,861,166 (GRCm39) |
E145K |
probably damaging |
Het |
Ambp |
A |
T |
4: 63,068,656 (GRCm39) |
Y120* |
probably null |
Het |
Ankrd36 |
C |
T |
11: 5,579,312 (GRCm39) |
A192V |
probably benign |
Het |
Apol7e |
A |
T |
15: 77,601,803 (GRCm39) |
M134L |
probably benign |
Het |
Atg9b |
A |
T |
5: 24,591,107 (GRCm39) |
N774K |
probably benign |
Het |
Catsperb |
T |
A |
12: 101,560,596 (GRCm39) |
N862K |
possibly damaging |
Het |
Ccdc7a |
T |
A |
8: 129,646,948 (GRCm39) |
D648V |
probably damaging |
Het |
Cfap54 |
G |
T |
10: 92,790,934 (GRCm39) |
P1855T |
unknown |
Het |
Clcnkb |
T |
A |
4: 141,139,541 (GRCm39) |
T154S |
probably damaging |
Het |
Cux1 |
C |
T |
5: 136,279,454 (GRCm39) |
R609H |
probably damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,252,667 (GRCm39) |
D413G |
possibly damaging |
Het |
Elp1 |
A |
G |
4: 56,771,453 (GRCm39) |
L948P |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,443,501 (GRCm39) |
|
probably null |
Het |
Grm5 |
T |
C |
7: 87,765,498 (GRCm39) |
|
probably null |
Het |
Hectd3 |
T |
G |
4: 116,853,778 (GRCm39) |
F225V |
possibly damaging |
Het |
Hpcal4 |
G |
T |
4: 123,082,976 (GRCm39) |
M107I |
probably benign |
Het |
Larp4 |
C |
A |
15: 99,908,339 (GRCm39) |
Q607K |
probably benign |
Het |
Marchf8 |
A |
G |
6: 116,378,815 (GRCm39) |
R250G |
probably benign |
Het |
Med13 |
A |
C |
11: 86,161,923 (GRCm39) |
N2135K |
probably damaging |
Het |
Msh5 |
T |
A |
17: 35,264,909 (GRCm39) |
R89* |
probably null |
Het |
Musk |
T |
G |
4: 58,286,051 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
C |
5: 113,022,609 (GRCm39) |
Q261R |
unknown |
Het |
Npr1 |
A |
T |
3: 90,363,464 (GRCm39) |
|
probably benign |
Het |
Nynrin |
T |
A |
14: 56,107,899 (GRCm39) |
V1002E |
possibly damaging |
Het |
Or2l5 |
T |
C |
16: 19,333,804 (GRCm39) |
Y194C |
possibly damaging |
Het |
Or4c103 |
A |
T |
2: 88,513,449 (GRCm39) |
F209Y |
probably benign |
Het |
Or4f14c |
T |
A |
2: 111,941,333 (GRCm39) |
K88M |
probably damaging |
Het |
Or5w15 |
A |
T |
2: 87,567,990 (GRCm39) |
L226Q |
probably damaging |
Het |
Pcare |
G |
T |
17: 72,058,372 (GRCm39) |
A435E |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Potefam1 |
T |
C |
2: 111,059,877 (GRCm39) |
|
probably benign |
Het |
Potefam3e |
T |
A |
8: 19,784,775 (GRCm39) |
L203* |
probably null |
Het |
Prkd1 |
T |
A |
12: 50,435,191 (GRCm39) |
N512I |
probably benign |
Het |
Pwwp2b |
C |
T |
7: 138,836,326 (GRCm39) |
P589L |
probably damaging |
Het |
Rasgrp4 |
G |
A |
7: 28,842,452 (GRCm39) |
G242D |
probably damaging |
Het |
Rcbtb1 |
T |
G |
14: 59,467,973 (GRCm39) |
V480G |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,305,501 (GRCm39) |
S945G |
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,824,863 (GRCm39) |
Q242* |
probably null |
Het |
Slfn3 |
T |
A |
11: 83,103,825 (GRCm39) |
V232E |
probably benign |
Het |
Stab1 |
T |
A |
14: 30,879,365 (GRCm39) |
K705M |
probably damaging |
Het |
Syn2 |
C |
A |
6: 115,255,128 (GRCm39) |
S480* |
probably null |
Het |
Thsd4 |
A |
T |
9: 60,301,728 (GRCm39) |
L189H |
probably damaging |
Het |
Tinagl1 |
T |
C |
4: 130,061,597 (GRCm39) |
T250A |
probably benign |
Het |
Tnc |
A |
T |
4: 63,935,683 (GRCm39) |
C418S |
probably damaging |
Het |
Ube2q1 |
A |
G |
3: 89,683,385 (GRCm39) |
E110G |
probably damaging |
Het |
Wdfy4 |
G |
T |
14: 32,693,722 (GRCm39) |
|
probably benign |
Het |
Xcl1 |
T |
C |
1: 164,759,419 (GRCm39) |
M94V |
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,444,095 (GRCm39) |
S413P |
possibly damaging |
Het |
Zfp454 |
A |
C |
11: 50,764,595 (GRCm39) |
I279S |
possibly damaging |
Het |
Zfp971 |
A |
C |
2: 177,675,730 (GRCm39) |
Q443P |
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 |
|
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'- CAGGAAGCATCAGAGGTTGTTAC -3'
(R):5'- GCTTAAACAAGCCTGTACCAG -3'
Sequencing Primer
(F):5'- GTCAAAGATCTCCTGGAAGATGTC -3'
(R):5'- GCCTGTACCAGCTATAAGGTCTAG -3'
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Posted On |
2021-03-08 |