Incidental Mutation 'R8517:Rasal2'
| ID |
656182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
067849-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 156973849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078308
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
| 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 benign
Transcript: ENSMUST00000132699
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
| 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 |
- 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.] 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,861,206 (GRCm39) |
D131E |
probably damaging |
Het |
| Abca17 |
C |
A |
17: 24,536,207 (GRCm39) |
V487F |
probably benign |
Het |
| Anapc5 |
T |
C |
5: 122,959,093 (GRCm39) |
S41G |
probably benign |
Het |
| Aoc1 |
C |
T |
6: 48,883,644 (GRCm39) |
Q507* |
probably null |
Het |
| Ccdc171 |
G |
A |
4: 83,661,298 (GRCm39) |
R1136H |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,460,012 (GRCm39) |
D413G |
probably benign |
Het |
| Copz2 |
A |
G |
11: 96,744,309 (GRCm39) |
K74E |
possibly damaging |
Het |
| Cpsf4l |
C |
A |
11: 113,599,651 (GRCm39) |
A45S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,838,207 (GRCm39) |
I710V |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,446,479 (GRCm39) |
R3348Q |
|
Het |
| Dchs2 |
A |
G |
3: 83,178,419 (GRCm39) |
I1157M |
probably damaging |
Het |
| Dcst1 |
A |
G |
3: 89,272,455 (GRCm39) |
F3L |
probably benign |
Het |
| Dennd5b |
A |
C |
6: 148,930,619 (GRCm39) |
C743G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,155,440 (GRCm39) |
E725G |
probably benign |
Het |
| Dnajc3 |
G |
T |
14: 119,190,589 (GRCm39) |
G51* |
probably null |
Het |
| Dyrk2 |
T |
C |
10: 118,696,926 (GRCm39) |
T111A |
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,822 (GRCm39) |
F206I |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,062,565 (GRCm39) |
S176R |
probably benign |
Het |
| Farsb |
A |
T |
1: 78,439,933 (GRCm39) |
L313* |
probably null |
Het |
| Fbh1 |
A |
G |
2: 11,782,241 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
G |
A |
16: 16,240,509 (GRCm39) |
T740I |
probably benign |
Het |
| Gprc6a |
G |
T |
10: 51,507,337 (GRCm39) |
A64D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,253,723 (GRCm39) |
V1365E |
probably damaging |
Het |
| Hdc |
C |
G |
2: 126,439,890 (GRCm39) |
|
probably null |
Het |
| Igkv5-39 |
T |
G |
6: 69,877,553 (GRCm39) |
I68L |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,531,636 (GRCm39) |
V425D |
probably damaging |
Het |
| Kcnj12 |
T |
C |
11: 60,960,199 (GRCm39) |
S166P |
probably benign |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,524 (GRCm39) |
C293* |
probably null |
Het |
| Map7 |
T |
C |
10: 20,137,581 (GRCm39) |
V251A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,100,244 (GRCm39) |
L1597M |
possibly damaging |
Het |
| Nmu |
T |
C |
5: 76,493,326 (GRCm39) |
E82G |
possibly damaging |
Het |
| Nup85 |
T |
C |
11: 115,455,390 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
G |
5: 63,948,925 (GRCm39) |
N166D |
probably damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,681 (GRCm39) |
H274L |
possibly damaging |
Het |
| Pbrm1 |
C |
A |
14: 30,789,739 (GRCm39) |
D784E |
probably benign |
Het |
| Pcdhgb1 |
T |
A |
18: 37,815,117 (GRCm39) |
M536K |
possibly damaging |
Het |
| Pml |
T |
A |
9: 58,127,651 (GRCm39) |
Q698L |
possibly damaging |
Het |
| Pon1 |
T |
C |
6: 5,171,769 (GRCm39) |
Y294C |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,522,246 (GRCm39) |
H484L |
probably damaging |
Het |
| Rpia |
C |
A |
6: 70,743,630 (GRCm39) |
V274L |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,225 (GRCm39) |
L424P |
probably damaging |
Het |
| Scnm1 |
A |
C |
3: 95,040,134 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
A |
11: 82,894,968 (GRCm39) |
M613L |
possibly damaging |
Het |
| Snph |
A |
G |
2: 151,435,641 (GRCm39) |
V429A |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,170,934 (GRCm39) |
D1022V |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Ttc8 |
A |
G |
12: 98,909,594 (GRCm39) |
N100D |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,357,997 (GRCm39) |
H752L |
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,110,043 (GRCm39) |
E244D |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,564,760 (GRCm39) |
|
probably null |
Het |
| Zfp46 |
A |
G |
4: 136,018,458 (GRCm39) |
T431A |
probably benign |
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 |
|
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 |
|
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'- AGGATAATGCCAAGAAACTTCCAG -3'
(R):5'- TGCCCTGTAGGAAACATTACTGTC -3'
Sequencing Primer
(F):5'- AGTATCTTGTTTTCTACTGATTTGCC -3'
(R):5'- GTACCTGGAGTTTAAAGCCAGCATC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation