Incidental Mutation 'R7545:Rasal2'
| ID |
584131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
045650-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 157020339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 217
(S217T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000129880]
[ENSMUST00000132699]
[ENSMUST00000134543]
[ENSMUST00000143358]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078308
AA Change: S217T
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: S217T
| 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: ENSMUST00000129880
AA Change: S153T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118367
Gene: ENSMUSG00000070565
AA Change: S153T
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
128 |
243 |
8.46e-3 |
SMART |
|
Pfam:C2
|
252 |
323 |
1.7e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132699
AA Change: S199T
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: S199T
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134543
AA Change: S70T
PolyPhen 2
Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119623
Gene: ENSMUSG00000070565
AA Change: S70T
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
45 |
160 |
8.46e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143358
AA Change: S89T
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116974
Gene: ENSMUSG00000070565
AA Change: S89T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
147 |
2e-83 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,696,040 (GRCm39) |
Y159H |
probably damaging |
Het |
| A1cf |
A |
T |
19: 31,912,190 (GRCm39) |
N435I |
possibly damaging |
Het |
| Aasdh |
A |
T |
5: 77,027,861 (GRCm39) |
F849I |
probably damaging |
Het |
| Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
| Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
| Adam26b |
C |
T |
8: 43,974,750 (GRCm39) |
G84D |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 85,683,092 (GRCm39) |
E54D |
probably damaging |
Het |
| Ang6 |
T |
G |
14: 44,239,636 (GRCm39) |
I31L |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,449,060 (GRCm39) |
N403S |
probably damaging |
Het |
| Bicd1 |
G |
A |
6: 149,414,990 (GRCm39) |
V568M |
probably benign |
Het |
| Ccdc192 |
A |
G |
18: 57,863,895 (GRCm39) |
E233G |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,163 (GRCm39) |
M339L |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,056,286 (GRCm39) |
D399G |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,897 (GRCm39) |
R17W |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,894,939 (GRCm39) |
F3636S |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,596,681 (GRCm39) |
T842S |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,516,127 (GRCm39) |
Q236K |
probably benign |
Het |
| Ext2 |
C |
A |
2: 93,644,108 (GRCm39) |
V58L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,322,359 (GRCm39) |
K1269E |
possibly damaging |
Het |
| Fech |
A |
G |
18: 64,597,185 (GRCm39) |
L258P |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,230,311 (GRCm39) |
S467P |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,269,779 (GRCm39) |
D1141E |
probably damaging |
Het |
| Gm45861 |
T |
G |
8: 28,071,032 (GRCm39) |
M1246R |
unknown |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,769,775 (GRCm39) |
|
probably benign |
Het |
| Itpripl1 |
A |
T |
2: 126,983,581 (GRCm39) |
C180* |
probably null |
Het |
| Klhl33 |
C |
A |
14: 51,130,631 (GRCm39) |
V28F |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,481,194 (GRCm39) |
D304V |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,377,028 (GRCm39) |
N537S |
possibly damaging |
Het |
| Mroh9 |
A |
G |
1: 162,902,277 (GRCm39) |
I112T |
possibly damaging |
Het |
| Mterf1a |
T |
A |
5: 3,940,995 (GRCm39) |
E291V |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,362,405 (GRCm39) |
N1905K |
unknown |
Het |
| Myt1l |
G |
A |
12: 29,877,087 (GRCm39) |
R246Q |
unknown |
Het |
| Nav2 |
A |
G |
7: 49,232,605 (GRCm39) |
E1854G |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,300,350 (GRCm39) |
D287E |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,630,966 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,929,725 (GRCm39) |
D5163E |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,403 (GRCm39) |
P127L |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,984 (GRCm39) |
|
probably null |
Het |
| Plppr1 |
A |
T |
4: 49,320,002 (GRCm39) |
L209F |
possibly damaging |
Het |
| Pmm1 |
T |
C |
15: 81,835,803 (GRCm39) |
D226G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,959,766 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
A |
G |
1: 191,104,806 (GRCm39) |
V80A |
probably benign |
Het |
| Pramel17 |
T |
A |
4: 101,695,159 (GRCm39) |
I51L |
probably benign |
Het |
| Psrc1 |
A |
G |
3: 108,293,759 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
T |
C |
17: 66,174,593 (GRCm39) |
T60A |
probably benign |
Het |
| Rnase12 |
A |
G |
14: 51,294,395 (GRCm39) |
F95L |
probably damaging |
Het |
| Rnf152 |
A |
T |
1: 105,211,957 (GRCm39) |
I200K |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Ryk |
C |
T |
9: 102,765,672 (GRCm39) |
T327I |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,892,903 (GRCm39) |
T40S |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,595,964 (GRCm39) |
H153Y |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,591,139 (GRCm39) |
D1317G |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,817,164 (GRCm39) |
T19M |
probably benign |
Het |
| Spata31 |
C |
T |
13: 65,070,359 (GRCm39) |
R836* |
probably null |
Het |
| Specc1l |
T |
C |
10: 75,080,921 (GRCm39) |
S106P |
probably benign |
Het |
| Speer1a |
C |
A |
5: 11,394,884 (GRCm39) |
Q124K |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,317,799 (GRCm39) |
N74S |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,674,543 (GRCm39) |
S498T |
probably damaging |
Het |
| Sva |
C |
T |
6: 42,019,148 (GRCm39) |
T106I |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,301,984 (GRCm39) |
L131Q |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 88,954,727 (GRCm39) |
R97W |
probably damaging |
Het |
| Tmx4 |
A |
G |
2: 134,451,425 (GRCm39) |
L176S |
possibly damaging |
Het |
| Tomm20l |
C |
A |
12: 71,164,171 (GRCm39) |
|
probably null |
Het |
| Topors |
A |
T |
4: 40,262,173 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ulk4 |
T |
C |
9: 120,970,904 (GRCm39) |
T1023A |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,094,153 (GRCm39) |
|
probably null |
Het |
| Urb2 |
T |
C |
8: 124,756,491 (GRCm39) |
S733P |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,591,060 (GRCm39) |
D750G |
|
Het |
| Xylt1 |
G |
A |
7: 117,192,812 (GRCm39) |
D373N |
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 |
|
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'- GCCTTACCAAAATTCGCACTG -3'
(R):5'- AGATTCTGGCCCAGTCCTTC -3'
Sequencing Primer
(F):5'- AATTCGCACTGTGCTAGACATGG -3'
(R):5'- GGCCCAGTCCTTCCTTCTCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation