Incidental Mutation 'R0787:Rasal2'
| ID |
76884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
038967-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0787 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156986266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 766
(S766P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078308
AA Change: S791P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: S791P
| 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 |
probably damaging
Transcript: ENSMUST00000132699
AA Change: S766P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: S766P
| 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 |
|
| Meta Mutation Damage Score |
0.1142 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001F09Rik |
A |
T |
14: 43,202,950 (GRCm39) |
|
probably null |
Het |
| Abca8a |
T |
A |
11: 109,933,814 (GRCm39) |
Y1197F |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,955 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,886,948 (GRCm39) |
C979S |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,921,019 (GRCm39) |
D523E |
unknown |
Het |
| Ankfy1 |
T |
A |
11: 72,651,122 (GRCm39) |
I1024N |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,700,315 (GRCm39) |
S379G |
probably null |
Het |
| Arhgap40 |
T |
C |
2: 158,389,710 (GRCm39) |
S625P |
probably benign |
Het |
| Armc12 |
G |
C |
17: 28,757,740 (GRCm39) |
A291P |
probably damaging |
Het |
| Armc9 |
A |
G |
1: 86,130,227 (GRCm39) |
N524D |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,545,767 (GRCm39) |
T2305K |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,036,079 (GRCm39) |
N277S |
probably benign |
Het |
| Czib |
T |
A |
4: 107,747,326 (GRCm39) |
L6Q |
probably damaging |
Het |
| Dennd2b |
G |
T |
7: 109,124,827 (GRCm39) |
R1068S |
possibly damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,827,719 (GRCm39) |
V129E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,772,696 (GRCm39) |
D79G |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,336,010 (GRCm39) |
E58G |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,062,702 (GRCm39) |
V222E |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,493,592 (GRCm39) |
Y3913N |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,241,765 (GRCm39) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,160,610 (GRCm39) |
D759V |
probably damaging |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Isg15 |
C |
T |
4: 156,284,396 (GRCm39) |
R44H |
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,109,497 (GRCm39) |
T232I |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,934,167 (GRCm39) |
H1399Q |
probably benign |
Het |
| Lig1 |
A |
C |
7: 13,032,995 (GRCm39) |
K499Q |
probably benign |
Het |
| Lrrn3 |
C |
A |
12: 41,504,230 (GRCm39) |
C29F |
probably damaging |
Het |
| Mtmr10 |
T |
C |
7: 63,950,363 (GRCm39) |
I136T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,562,604 (GRCm39) |
Y854H |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,969,395 (GRCm39) |
N81D |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,124,193 (GRCm39) |
A659V |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,487,479 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,241,865 (GRCm39) |
V83A |
probably damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,827,031 (GRCm39) |
M326K |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,802,916 (GRCm39) |
D235G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,392,660 (GRCm39) |
P1665Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,292,678 (GRCm39) |
T326A |
probably damaging |
Het |
| Prr22 |
A |
T |
17: 57,078,072 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Ptov1 |
A |
C |
7: 44,514,894 (GRCm39) |
|
probably null |
Het |
| Shmt1 |
T |
C |
11: 60,683,802 (GRCm39) |
T337A |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,686,645 (GRCm39) |
I1168N |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,912,777 (GRCm39) |
V1126A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,066,687 (GRCm39) |
S2304T |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,586,449 (GRCm39) |
R1446M |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,200,965 (GRCm39) |
I425V |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,781,765 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,200,581 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,713 (GRCm39) |
S573P |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,254 (GRCm39) |
V191E |
probably damaging |
Het |
| Zdhhc3 |
A |
T |
9: 122,912,688 (GRCm39) |
C153* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,227,147 (GRCm39) |
V2154D |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,471 (GRCm39) |
V2046A |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,140,634 (GRCm39) |
I227N |
unknown |
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 |
|
IGL02496:Rasal2
|
APN |
1 |
156,977,449 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGCATTGTGACAAACAACTGGG -3'
(R):5'- ACATCCTTCCGTCAATGGGCATC -3'
Sequencing Primer
(F):5'- GACAAACAACTGGGTTTATCTTGTG -3'
(R):5'- CACAATGCTTGTTGTCCAATTAGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation