Incidental Mutation 'R9614:Idh2'
| ID |
724443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh2
|
| Ensembl Gene |
ENSMUSG00000030541 |
| Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Synonyms |
Idh-2, IDPm |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9614 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 79747925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 258
(Y258*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107384]
[ENSMUST00000125542]
[ENSMUST00000134328]
[ENSMUST00000164056]
[ENSMUST00000206714]
|
| AlphaFold |
P54071 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107384
AA Change: Y258*
|
| SMART Domains |
Protein: ENSMUSP00000103007
Gene: ENSMUSG00000030541
AA Change: Y258*
| 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
AA Change: *295R
|
| SMART Domains |
Protein: ENSMUSP00000118184
Gene: ENSMUSG00000030541
AA Change: *295R
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,767,364 (GRCm39) |
T317I |
possibly damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,251 (GRCm39) |
V1306E |
probably damaging |
Het |
| Adcy9 |
C |
T |
16: 4,106,547 (GRCm39) |
D1093N |
probably damaging |
Het |
| Adgra3 |
A |
G |
5: 50,164,250 (GRCm39) |
V243A |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,526,687 (GRCm39) |
A265T |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,970,119 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
A |
G |
16: 29,260,398 (GRCm39) |
V560A |
|
Het |
| Best2 |
A |
C |
8: 85,740,051 (GRCm39) |
C38G |
|
Het |
| Bicra |
A |
T |
7: 15,705,880 (GRCm39) |
S1520R |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,602,588 (GRCm39) |
L541P |
probably damaging |
Het |
| Calcoco2 |
T |
A |
11: 95,991,185 (GRCm39) |
H184L |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,403 (GRCm39) |
I163F |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,597,563 (GRCm39) |
H356R |
probably damaging |
Het |
| Clu |
A |
C |
14: 66,208,851 (GRCm39) |
H32P |
unknown |
Het |
| Col5a1 |
T |
A |
2: 27,879,186 (GRCm39) |
D840E |
unknown |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,208,239 (GRCm39) |
V1239L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,482,945 (GRCm39) |
Q267L |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,975,212 (GRCm39) |
R1689W |
probably damaging |
Het |
| Dao |
A |
T |
5: 114,152,060 (GRCm39) |
D126V |
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,978,423 (GRCm39) |
M560T |
probably benign |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,379 (GRCm39) |
I154N |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,517,144 (GRCm39) |
E980G |
probably damaging |
Het |
| Fgf21 |
T |
C |
7: 45,264,703 (GRCm39) |
T10A |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,678,882 (GRCm39) |
V598G |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,863 (GRCm39) |
I225F |
possibly damaging |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,744,047 (GRCm39) |
G294S |
probably damaging |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Immp2l |
T |
C |
12: 41,160,933 (GRCm39) |
V77A |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,441,924 (GRCm39) |
E103G |
|
Het |
| Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
| Kcnj6 |
G |
A |
16: 94,633,307 (GRCm39) |
T268I |
probably damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,284,037 (GRCm39) |
V514A |
probably benign |
Het |
| Mcfd2 |
A |
T |
17: 87,565,421 (GRCm39) |
H27Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,364,769 (GRCm39) |
W537R |
probably damaging |
Het |
| Mybl2 |
G |
T |
2: 162,906,225 (GRCm39) |
G102V |
probably damaging |
Het |
| Nars2 |
C |
T |
7: 96,689,125 (GRCm39) |
T349M |
probably damaging |
Het |
| Nat8f3 |
A |
T |
6: 85,738,708 (GRCm39) |
V18E |
|
Het |
| Npepps |
T |
C |
11: 97,149,177 (GRCm39) |
E115G |
probably benign |
Het |
| Odad3 |
T |
C |
9: 21,904,310 (GRCm39) |
D322G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,922,707 (GRCm39) |
V324E |
probably damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,071 (GRCm39) |
W20R |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,899,526 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,281 (GRCm39) |
V270M |
probably damaging |
Het |
| Or8j3b |
A |
G |
2: 86,205,012 (GRCm39) |
V248A |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,486 (GRCm39) |
S1550P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,854,420 (GRCm39) |
V243A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,944,005 (GRCm39) |
D293G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,203,441 (GRCm39) |
K1784R |
probably damaging |
Het |
| Rab23 |
CAA |
CA |
1: 33,764,077 (GRCm39) |
|
probably null |
Het |
| Raf1 |
T |
C |
6: 115,596,597 (GRCm39) |
N576D |
probably benign |
Het |
| Rasa4 |
C |
A |
5: 136,140,343 (GRCm39) |
H782Q |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,491,969 (GRCm39) |
E168* |
probably null |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,434 (GRCm39) |
N874K |
possibly damaging |
Het |
| Rxfp4 |
C |
T |
3: 88,559,969 (GRCm39) |
V161I |
possibly damaging |
Het |
| Scel |
G |
A |
14: 103,843,032 (GRCm39) |
G558D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,196,565 (GRCm39) |
K723R |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,002,445 (GRCm39) |
R142W |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 29,136,079 (GRCm39) |
G309D |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,223,476 (GRCm39) |
T111A |
probably benign |
Het |
| Tgfa |
G |
A |
6: 86,248,397 (GRCm39) |
R133H |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,345,754 (GRCm39) |
S1836P |
probably damaging |
Het |
| Tlk2 |
A |
G |
11: 105,138,328 (GRCm39) |
D292G |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,141,160 (GRCm39) |
I657T |
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,383,379 (GRCm39) |
T349I |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
| Tsc22d1 |
T |
G |
14: 76,653,983 (GRCm39) |
I154S |
probably damaging |
Het |
| Vmn1r2 |
T |
C |
4: 3,172,587 (GRCm39) |
Y169H |
probably damaging |
Het |
| Vmn1r77 |
G |
T |
7: 11,775,766 (GRCm39) |
V181L |
probably benign |
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 |
|
|
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 |
|
|
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'- AAAGGGCTTGTCTCAGGGAG -3'
(R):5'- AGGAGTCCAGGAGTCTTATGG -3'
Sequencing Primer
(F):5'- CTTGTCTCAGGGAGAGGGCAG -3'
(R):5'- CCAGGAGTCTTATGGAGGTGC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation