Incidental Mutation 'R1535:Rasal2'
| ID |
166859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
039574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1535 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 157057629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 181
(T181A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000129880]
[ENSMUST00000132699]
[ENSMUST00000134543]
[ENSMUST00000143358]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078308
AA Change: T181A
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: T181A
| 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: ENSMUST00000129880
AA Change: T117A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118367
Gene: ENSMUSG00000070565
AA Change: T117A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
128 |
243 |
8.46e-3 |
SMART |
|
Pfam:C2
|
252 |
323 |
1.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132699
AA Change: T163A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: T163A
| 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 |
probably benign
Transcript: ENSMUST00000134543
AA Change: T34A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000119623
Gene: ENSMUSG00000070565
AA Change: T34A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
45 |
160 |
8.46e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143358
AA Change: T53A
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116974
Gene: ENSMUSG00000070565
AA Change: T53A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
147 |
2e-83 |
BLAST |
|
| Meta Mutation Damage Score |
0.0673 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
| Validation Efficiency |
100% (75/75) |
| 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 |
|---|
| 3110009E18Rik |
T |
C |
1: 120,099,203 (GRCm39) |
S99P |
possibly damaging |
Het |
| Abca16 |
T |
A |
7: 120,139,928 (GRCm39) |
I1530N |
probably benign |
Het |
| Abcc9 |
T |
G |
6: 142,610,361 (GRCm39) |
Q601P |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,980,631 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
T |
13: 70,939,913 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
G |
C |
18: 65,483,275 (GRCm39) |
S244R |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,398 (GRCm39) |
F108L |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Bend5 |
C |
A |
4: 111,316,960 (GRCm39) |
D374E |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,397,671 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Ccer2 |
G |
T |
7: 28,456,822 (GRCm39) |
G189* |
probably null |
Het |
| Ces2h |
A |
G |
8: 105,741,118 (GRCm39) |
T37A |
probably benign |
Het |
| Cfap68 |
C |
T |
9: 50,675,307 (GRCm39) |
R40Q |
probably damaging |
Het |
| Cmah |
T |
C |
13: 24,623,203 (GRCm39) |
F213L |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,453,122 (GRCm39) |
E390G |
probably benign |
Het |
| Coq7 |
C |
T |
7: 118,128,897 (GRCm39) |
R46Q |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,451 (GRCm39) |
D136V |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,198,217 (GRCm39) |
L237P |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,998,692 (GRCm39) |
L549P |
unknown |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dis3 |
G |
T |
14: 99,316,862 (GRCm39) |
Q825K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,982,465 (GRCm39) |
R2568Q |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,538,279 (GRCm39) |
R2312S |
possibly damaging |
Het |
| Dock9 |
C |
T |
14: 121,783,476 (GRCm39) |
E2041K |
probably damaging |
Het |
| Eci1 |
A |
G |
17: 24,658,064 (GRCm39) |
E282G |
probably benign |
Het |
| Egf |
T |
A |
3: 129,484,427 (GRCm39) |
T464S |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,824,613 (GRCm39) |
P97S |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,242,944 (GRCm39) |
V1065A |
possibly damaging |
Het |
| Ep400 |
G |
T |
5: 110,856,032 (GRCm39) |
|
probably benign |
Het |
| Fam13a |
A |
C |
6: 58,916,332 (GRCm39) |
I607S |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,728 (GRCm39) |
S113P |
probably damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
| Fnip2 |
C |
A |
3: 79,389,072 (GRCm39) |
C553F |
probably damaging |
Het |
| Frmd3 |
G |
T |
4: 73,931,995 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
G |
A |
17: 27,653,775 (GRCm39) |
S470L |
probably benign |
Het |
| Gucy2e |
T |
A |
11: 69,117,070 (GRCm39) |
I784F |
probably damaging |
Het |
| H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,310,419 (GRCm39) |
T3338S |
possibly damaging |
Het |
| Idh1 |
C |
T |
1: 65,207,697 (GRCm39) |
G161R |
probably damaging |
Het |
| Idi1 |
T |
C |
13: 8,936,945 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
A |
T |
13: 8,990,680 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
C |
T |
2: 180,776,618 (GRCm39) |
G90S |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,134,486 (GRCm39) |
Y642H |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,443,994 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,334,486 (GRCm39) |
F4420I |
probably benign |
Het |
| Me1 |
A |
G |
9: 86,469,096 (GRCm39) |
S470P |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,605 (GRCm39) |
S71P |
probably damaging |
Het |
| Mfsd3 |
T |
C |
15: 76,586,979 (GRCm39) |
L273P |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,361,207 (GRCm39) |
K757R |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,662,013 (GRCm39) |
V782D |
probably damaging |
Het |
| Nab2 |
C |
G |
10: 127,500,916 (GRCm39) |
E59Q |
probably damaging |
Het |
| Nfyc |
A |
T |
4: 120,618,921 (GRCm39) |
N244K |
probably damaging |
Het |
| Nupr2 |
A |
G |
5: 129,937,672 (GRCm39) |
I80M |
probably damaging |
Het |
| Or4c15b |
T |
C |
2: 89,113,401 (GRCm39) |
I46M |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,576 (GRCm39) |
T24A |
probably benign |
Het |
| Or5a1 |
A |
G |
19: 12,097,696 (GRCm39) |
C115R |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,977,065 (GRCm39) |
T602A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,094,301 (GRCm39) |
V561D |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,138,843 (GRCm39) |
V489E |
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,909,886 (GRCm39) |
M1T |
probably null |
Het |
| Sgsm1 |
A |
T |
5: 113,411,135 (GRCm39) |
S864T |
possibly damaging |
Het |
| Slc5a10 |
C |
A |
11: 61,564,767 (GRCm39) |
G404V |
possibly damaging |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Son |
A |
G |
16: 91,456,622 (GRCm39) |
K1790E |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,816,505 (GRCm39) |
E509G |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,708,176 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,102,026 (GRCm39) |
I58V |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,040 (GRCm39) |
Y269C |
probably damaging |
Het |
| Wdr87-ps |
C |
T |
7: 29,229,004 (GRCm39) |
|
noncoding transcript |
Het |
| Yeats2 |
T |
A |
16: 20,008,115 (GRCm39) |
S416T |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,394,843 (GRCm39) |
H513Q |
probably 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 |
|
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 |
|
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'- TCTGAGTTGTTTgaagctggcaagat -3'
(R):5'- TGCACACATGAAAACACAAGTTGTCTC -3'
Sequencing Primer
(F):5'- CTAGGAATGCTGCATCTAGTGG -3'
(R):5'- TGTCTCTCAGAATAGATTCTTAACCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation