Incidental Mutation 'R8935:Idh2'
ID |
680573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
MMRRC Submission |
068778-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8935 (G1)
|
Quality Score |
134.008 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79764946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 27
(T27A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107384]
[ENSMUST00000134328]
[ENSMUST00000206714]
|
AlphaFold |
P54071 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107384
AA Change: T27A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103007 Gene: ENSMUSG00000030541 AA Change: T27A
Domain | Start | End | E-Value | Type |
Iso_dh
|
49 |
441 |
5.32e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134328
AA Change: T27A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118184 Gene: ENSMUSG00000030541 AA Change: T27A
Domain | Start | End | E-Value | Type |
Iso_dh
|
49 |
284 |
1.59e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206714
AA Change: T27A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0940 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
G |
T |
8: 117,698,181 (GRCm39) |
Q309K |
probably benign |
Het |
Adam20 |
T |
C |
8: 41,247,989 (GRCm39) |
V33A |
probably benign |
Het |
Ank |
T |
C |
15: 27,591,112 (GRCm39) |
V417A |
probably damaging |
Het |
Arhgef17 |
C |
T |
7: 100,527,324 (GRCm39) |
V779I |
probably benign |
Het |
Atp6v0a1 |
T |
A |
11: 100,929,519 (GRCm39) |
F440I |
possibly damaging |
Het |
Brca2 |
T |
G |
5: 150,492,446 (GRCm39) |
S3154A |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
Cep128 |
C |
T |
12: 91,233,770 (GRCm39) |
E433K |
probably damaging |
Het |
Cep192 |
C |
T |
18: 67,995,543 (GRCm39) |
T970I |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,153,210 (GRCm39) |
T249A |
possibly damaging |
Het |
Cpd |
C |
T |
11: 76,731,295 (GRCm39) |
G304S |
probably damaging |
Het |
Cpsf7 |
T |
A |
19: 10,509,345 (GRCm39) |
Y85* |
probably null |
Het |
Csf3r |
T |
A |
4: 125,937,200 (GRCm39) |
S695T |
probably benign |
Het |
Cyp20a1 |
A |
G |
1: 60,410,473 (GRCm39) |
Q258R |
probably damaging |
Het |
Ddi2 |
A |
T |
4: 141,412,600 (GRCm39) |
L104Q |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,983,066 (GRCm39) |
S733P |
possibly damaging |
Het |
Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
Elapor2 |
C |
T |
5: 9,491,764 (GRCm39) |
T708M |
probably damaging |
Het |
Fgfr3 |
A |
C |
5: 33,892,810 (GRCm39) |
D752A |
probably damaging |
Het |
Fmod |
C |
A |
1: 133,968,586 (GRCm39) |
H209N |
probably benign |
Het |
Gde1 |
C |
T |
7: 118,297,914 (GRCm39) |
E101K |
possibly damaging |
Het |
Gldc |
C |
T |
19: 30,109,093 (GRCm39) |
R615Q |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,764,122 (GRCm39) |
E1343G |
probably damaging |
Het |
Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
Gm4847 |
A |
G |
1: 166,469,789 (GRCm39) |
Y95H |
probably damaging |
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Gtpbp3 |
A |
G |
8: 71,945,181 (GRCm39) |
|
probably null |
Het |
Haspin |
A |
G |
11: 73,026,890 (GRCm39) |
F733S |
probably damaging |
Het |
Hgh1 |
C |
G |
15: 76,254,592 (GRCm39) |
R323G |
probably damaging |
Het |
Idh1 |
A |
T |
1: 65,204,378 (GRCm39) |
I244N |
probably damaging |
Het |
Igkv4-69 |
T |
C |
6: 69,260,912 (GRCm39) |
T72A |
possibly damaging |
Het |
Lmntd1 |
A |
G |
6: 145,489,229 (GRCm39) |
Y11H |
probably benign |
Het |
Myt1l |
T |
C |
12: 29,877,243 (GRCm39) |
M298T |
unknown |
Het |
Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
Nfya |
A |
T |
17: 48,700,294 (GRCm39) |
|
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,767,586 (GRCm39) |
D180G |
probably damaging |
Het |
Or10ag60 |
A |
G |
2: 87,438,421 (GRCm39) |
T230A |
possibly damaging |
Het |
Or4k50-ps1 |
A |
T |
2: 111,522,244 (GRCm39) |
Q127L |
unknown |
Het |
Osbpl6 |
T |
C |
2: 76,379,800 (GRCm39) |
V130A |
possibly damaging |
Het |
Prss44 |
T |
A |
9: 110,645,527 (GRCm39) |
I94N |
probably damaging |
Het |
Rbm6 |
C |
T |
9: 107,677,945 (GRCm39) |
V15I |
probably benign |
Het |
Rdh19 |
C |
T |
10: 127,685,929 (GRCm39) |
L14F |
possibly damaging |
Het |
Rtkn |
T |
C |
6: 83,115,196 (GRCm39) |
L14P |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,508,402 (GRCm39) |
N3405K |
probably benign |
Het |
Scp2 |
T |
C |
4: 107,950,072 (GRCm39) |
E179G |
probably damaging |
Het |
Sema3e |
A |
T |
5: 14,282,127 (GRCm39) |
K421I |
probably damaging |
Het |
Sorcs2 |
C |
T |
5: 36,193,202 (GRCm39) |
V755M |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,607,436 (GRCm39) |
I1328V |
probably damaging |
Het |
Speg |
A |
T |
1: 75,399,250 (GRCm39) |
K2232N |
probably benign |
Het |
St7l |
A |
G |
3: 104,778,204 (GRCm39) |
I114V |
probably damaging |
Het |
Stkld1 |
C |
T |
2: 26,833,941 (GRCm39) |
Q143* |
probably null |
Het |
Stox2 |
T |
C |
8: 47,645,895 (GRCm39) |
T586A |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,634,988 (GRCm39) |
|
probably null |
Het |
Tectb |
G |
T |
19: 55,183,132 (GRCm39) |
V338L |
probably benign |
Het |
Tiam1 |
T |
C |
16: 89,681,821 (GRCm39) |
N386D |
probably damaging |
Het |
Trps1 |
G |
A |
15: 50,752,344 (GRCm39) |
Q2* |
probably null |
Het |
Usp36 |
C |
T |
11: 118,167,657 (GRCm39) |
|
probably null |
Het |
Vmn1r198 |
C |
T |
13: 22,539,092 (GRCm39) |
Q104* |
probably null |
Het |
Vmn1r38 |
T |
C |
6: 66,753,979 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r110 |
A |
G |
17: 20,803,957 (GRCm39) |
V206A |
probably benign |
Het |
Vmn2r62 |
T |
A |
7: 42,437,791 (GRCm39) |
D231V |
probably benign |
Het |
Zfp143 |
T |
C |
7: 109,669,736 (GRCm39) |
L55P |
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 |
|
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'- TGATAGGACCCAGCAATCCC -3'
(R):5'- ATATGGAGGCTCCCAGAAAGC -3'
Sequencing Primer
(F):5'- AGCTCGGTGTAAGGCCAC -3'
(R):5'- AACAGGCCCAAGGGTGTC -3'
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Posted On |
2021-08-31 |