Incidental Mutation 'IGL02496:Rasal2'
| ID |
295840 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02496
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156977449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1075
(M1075K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078308
AA Change: M1100K
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: M1100K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
PH
|
58 |
307 |
3.97e-8 |
SMART |
|
C2
|
317 |
413 |
6.01e-10 |
SMART |
|
RasGAP
|
423 |
767 |
4.56e-157 |
SMART |
|
low complexity region
|
780 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1075 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1092 |
N/A |
INTRINSIC |
|
coiled coil region
|
1117 |
1236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132699
AA Change: M1075K
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: M1075K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
PH
|
40 |
289 |
1.7e-10 |
SMART |
|
C2
|
299 |
395 |
4e-12 |
SMART |
|
RasGAP
|
405 |
742 |
4.2e-153 |
SMART |
|
low complexity region
|
755 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1059 |
1067 |
N/A |
INTRINSIC |
|
coiled coil region
|
1092 |
1211 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced survival and decreased tumor latency. In other tumorigenic models, this allele promotes increase metastatic potential. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,327,712 (GRCm39) |
H1456P |
possibly damaging |
Het |
| Abcg1 |
C |
A |
17: 31,324,578 (GRCm39) |
H274Q |
probably damaging |
Het |
| Adamts4 |
G |
A |
1: 171,078,512 (GRCm39) |
R44Q |
probably benign |
Het |
| Amigo2 |
A |
T |
15: 97,143,494 (GRCm39) |
C309* |
probably null |
Het |
| Ccdc88c |
A |
C |
12: 100,919,552 (GRCm39) |
S446A |
probably benign |
Het |
| Cd9 |
A |
T |
6: 125,449,458 (GRCm39) |
V28E |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,678,163 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
C |
T |
5: 87,825,453 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
G |
T |
17: 46,851,302 (GRCm39) |
R373S |
possibly damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,126,640 (GRCm39) |
H1457N |
probably damaging |
Het |
| Dennd2b |
C |
A |
7: 109,155,442 (GRCm39) |
R436L |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,920,189 (GRCm39) |
S2235P |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,043,883 (GRCm39) |
W647R |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,930,919 (GRCm38) |
|
probably benign |
Het |
| Flnc |
G |
T |
6: 29,440,684 (GRCm39) |
V301L |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,049,627 (GRCm39) |
S445G |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,773,603 (GRCm39) |
|
probably benign |
Het |
| Hsd17b4 |
T |
C |
18: 50,288,220 (GRCm39) |
Y217H |
probably damaging |
Het |
| Iba57 |
T |
C |
11: 59,049,772 (GRCm39) |
T192A |
probably benign |
Het |
| Igkv5-48 |
A |
T |
6: 69,703,671 (GRCm39) |
I78N |
probably damaging |
Het |
| Inhbe |
A |
T |
10: 127,186,797 (GRCm39) |
W128R |
probably damaging |
Het |
| Ism1 |
T |
C |
2: 139,599,121 (GRCm39) |
C365R |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,670,470 (GRCm39) |
T127S |
probably damaging |
Het |
| Kmt2d |
C |
A |
15: 98,755,439 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,654,042 (GRCm39) |
R321G |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,977,854 (GRCm39) |
M76T |
possibly damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,684 (GRCm39) |
C223R |
probably damaging |
Het |
| Nucb1 |
G |
T |
7: 45,144,467 (GRCm39) |
|
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
| Or13a18 |
A |
C |
7: 140,190,081 (GRCm39) |
M1L |
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,556 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or6b1 |
A |
C |
6: 42,815,738 (GRCm39) |
I308L |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,206,824 (GRCm39) |
|
probably null |
Het |
| Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,507 (GRCm39) |
D476G |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,303,535 (GRCm39) |
E1685G |
possibly damaging |
Het |
| Plod2 |
T |
A |
9: 92,489,147 (GRCm39) |
L714Q |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,171,716 (GRCm39) |
I103V |
probably benign |
Het |
| Plscr3 |
C |
A |
11: 69,738,209 (GRCm39) |
|
probably benign |
Het |
| Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
| Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
| Prr36 |
C |
A |
8: 4,266,407 (GRCm39) |
E48* |
probably null |
Het |
| Ptgir |
G |
A |
7: 16,641,409 (GRCm39) |
V234I |
possibly damaging |
Het |
| Ptk7 |
A |
T |
17: 46,901,070 (GRCm39) |
V219E |
probably benign |
Het |
| Rab39b |
T |
A |
X: 74,618,609 (GRCm39) |
I74F |
probably damaging |
Het |
| Rpl37a |
G |
A |
1: 72,750,885 (GRCm39) |
A20T |
probably null |
Het |
| Serpinb10 |
A |
C |
1: 107,466,155 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,471,868 (GRCm39) |
Y1283N |
probably damaging |
Het |
| Slc22a23 |
T |
A |
13: 34,528,468 (GRCm39) |
I105F |
possibly damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,559,599 (GRCm39) |
I221N |
probably damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,659,247 (GRCm39) |
H691L |
probably damaging |
Het |
| Smo |
A |
C |
6: 29,758,480 (GRCm39) |
T542P |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,071,329 (GRCm39) |
I51N |
probably damaging |
Het |
| Spon1 |
G |
T |
7: 113,635,897 (GRCm39) |
V704L |
probably benign |
Het |
| Tex9 |
T |
A |
9: 72,389,774 (GRCm39) |
Q112L |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,919,486 (GRCm39) |
E580G |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,387,335 (GRCm38) |
V141E |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,636,466 (GRCm39) |
L247* |
probably null |
Het |
| Umodl1 |
G |
T |
17: 31,217,628 (GRCm39) |
V1145F |
probably damaging |
Het |
| Vasp |
C |
A |
7: 18,992,748 (GRCm39) |
|
probably benign |
Het |
| Vmn1r8 |
G |
T |
6: 57,013,556 (GRCm39) |
L202F |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,787,837 (GRCm39) |
T505A |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,112,693 (GRCm39) |
|
probably benign |
Het |
| Wfdc1 |
T |
G |
8: 120,406,909 (GRCm39) |
V109G |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,463,056 (GRCm39) |
E708* |
probably null |
Het |
| Zbtb1 |
T |
A |
12: 76,432,169 (GRCm39) |
F52I |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,648,117 (GRCm39) |
S1015P |
probably damaging |
Het |
| Zfp532 |
T |
C |
18: 65,757,113 (GRCm39) |
S349P |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,889,550 (GRCm39) |
C731S |
possibly damaging |
Het |
|
| Other mutations in Rasal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Rasal2
|
APN |
1 |
156,975,387 (GRCm39) |
missense |
probably benign |
|
|
IGL00484:Rasal2
|
APN |
1 |
157,001,745 (GRCm39) |
splice site |
probably null |
|
|
IGL00731:Rasal2
|
APN |
1 |
156,985,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00900:Rasal2
|
APN |
1 |
157,239,499 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01346:Rasal2
|
APN |
1 |
156,988,786 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01635:Rasal2
|
APN |
1 |
156,991,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Rasal2
|
APN |
1 |
157,003,502 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01939:Rasal2
|
APN |
1 |
157,003,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Rasal2
|
APN |
1 |
157,003,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01954:Rasal2
|
APN |
1 |
157,005,269 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02005:Rasal2
|
APN |
1 |
156,984,568 (GRCm39) |
nonsense |
probably null |
|
|
IGL02056:Rasal2
|
APN |
1 |
157,126,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02444:Rasal2
|
APN |
1 |
157,126,765 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02832:Rasal2
|
APN |
1 |
156,984,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03351:Rasal2
|
APN |
1 |
157,020,311 (GRCm39) |
splice site |
probably benign |
|
|
R0456:Rasal2
|
UTSW |
1 |
156,977,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Rasal2
|
UTSW |
1 |
156,975,362 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0681:Rasal2
|
UTSW |
1 |
156,984,750 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0682:Rasal2
|
UTSW |
1 |
157,006,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Rasal2
|
UTSW |
1 |
157,006,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Rasal2
|
UTSW |
1 |
156,986,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0789:Rasal2
|
UTSW |
1 |
156,984,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Rasal2
|
UTSW |
1 |
157,005,208 (GRCm39) |
unclassified |
probably benign |
|
|
R1175:Rasal2
|
UTSW |
1 |
156,975,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1332:Rasal2
|
UTSW |
1 |
157,003,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1396:Rasal2
|
UTSW |
1 |
156,992,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Rasal2
|
UTSW |
1 |
157,057,629 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1542:Rasal2
|
UTSW |
1 |
157,003,421 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1703:Rasal2
|
UTSW |
1 |
156,985,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Rasal2
|
UTSW |
1 |
157,001,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Rasal2
|
UTSW |
1 |
157,126,714 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2570:Rasal2
|
UTSW |
1 |
156,988,870 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3148:Rasal2
|
UTSW |
1 |
157,071,334 (GRCm39) |
intron |
probably benign |
|
|
R3157:Rasal2
|
UTSW |
1 |
156,986,225 (GRCm39) |
splice site |
probably benign |
|
|
R4277:Rasal2
|
UTSW |
1 |
156,984,696 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4459:Rasal2
|
UTSW |
1 |
157,003,402 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4460:Rasal2
|
UTSW |
1 |
157,003,402 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4563:Rasal2
|
UTSW |
1 |
157,003,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Rasal2
|
UTSW |
1 |
157,071,231 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4894:Rasal2
|
UTSW |
1 |
157,020,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5147:Rasal2
|
UTSW |
1 |
157,003,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Rasal2
|
UTSW |
1 |
156,985,335 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5421:Rasal2
|
UTSW |
1 |
157,126,711 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5459:Rasal2
|
UTSW |
1 |
156,985,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5651:Rasal2
|
UTSW |
1 |
156,984,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Rasal2
|
UTSW |
1 |
157,003,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Rasal2
|
UTSW |
1 |
156,988,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Rasal2
|
UTSW |
1 |
157,239,432 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6332:Rasal2
|
UTSW |
1 |
157,126,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6571:Rasal2
|
UTSW |
1 |
156,988,749 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7258:Rasal2
|
UTSW |
1 |
156,985,270 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7545:Rasal2
|
UTSW |
1 |
157,020,339 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7558:Rasal2
|
UTSW |
1 |
157,003,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7894:Rasal2
|
UTSW |
1 |
157,071,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8140:Rasal2
|
UTSW |
1 |
157,126,805 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8141:Rasal2
|
UTSW |
1 |
156,992,240 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8151:Rasal2
|
UTSW |
1 |
157,071,154 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8218:Rasal2
|
UTSW |
1 |
156,984,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8517:Rasal2
|
UTSW |
1 |
156,973,849 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9021:Rasal2
|
UTSW |
1 |
157,058,514 (GRCm39) |
missense |
unknown |
|
|
RF024:Rasal2
|
UTSW |
1 |
156,975,360 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Rasal2
|
UTSW |
1 |
157,003,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation