Incidental Mutation 'R8140:Rasal2'
| ID |
632460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
067568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 157126805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 78
(S78P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078308
AA Change: S78P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: S78P
| 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: S60P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: S60P
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 93.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,954 (GRCm39) |
V230E |
possibly damaging |
Het |
| Amotl1 |
G |
A |
9: 14,484,011 (GRCm39) |
|
probably null |
Het |
| Atp7b |
C |
A |
8: 22,518,576 (GRCm39) |
E87D |
probably damaging |
Het |
| Bcat2 |
C |
T |
7: 45,237,775 (GRCm39) |
P347L |
probably damaging |
Het |
| Brox |
A |
T |
1: 183,075,437 (GRCm39) |
|
probably null |
Het |
| Cd37 |
A |
G |
7: 44,887,959 (GRCm39) |
I58T |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,252,829 (GRCm39) |
M333K |
probably benign |
Het |
| Chtop |
A |
G |
3: 90,412,700 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
A |
T |
6: 30,544,904 (GRCm39) |
K54N |
probably benign |
Het |
| Cpa6 |
A |
G |
1: 10,395,519 (GRCm39) |
S383P |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,540,748 (GRCm39) |
I2542N |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,090,357 (GRCm39) |
V1179I |
probably benign |
Het |
| Erbin |
T |
C |
13: 104,056,802 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
T |
2: 130,457,170 (GRCm39) |
D473E |
possibly damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,097,395 (GRCm39) |
E372G |
probably damaging |
Het |
| Fgl1 |
T |
C |
8: 41,653,646 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
G |
18: 9,213,797 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,925 (GRCm39) |
H411L |
probably benign |
Het |
| Gm49380 |
G |
T |
9: 44,023,269 (GRCm39) |
D326E |
probably benign |
Het |
| Hcrtr1 |
G |
A |
4: 130,029,083 (GRCm39) |
R240C |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,088,181 (GRCm39) |
Y948N |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,295,167 (GRCm39) |
S301G |
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,520,574 (GRCm39) |
D362E |
possibly damaging |
Het |
| Ighv1-9 |
G |
A |
12: 114,547,361 (GRCm39) |
P60L |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,867,390 (GRCm39) |
I751T |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,941,402 (GRCm39) |
Y851C |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,531,499 (GRCm39) |
S470P |
probably benign |
Het |
| Mfsd2a |
C |
T |
4: 122,843,091 (GRCm39) |
V397I |
probably benign |
Het |
| Mroh1 |
C |
A |
15: 76,318,073 (GRCm39) |
H867N |
probably benign |
Het |
| Mthfd1l |
C |
T |
10: 3,957,745 (GRCm39) |
R261* |
probably null |
Het |
| Myo3a |
A |
G |
2: 22,412,157 (GRCm39) |
I725M |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Nek11 |
G |
T |
9: 105,270,156 (GRCm39) |
P22Q |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,457 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or5k15 |
T |
C |
16: 58,709,948 (GRCm39) |
T212A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,603 (GRCm39) |
V124E |
possibly damaging |
Het |
| Peg10 |
C |
G |
6: 4,756,113 (GRCm39) |
Q230E |
unknown |
Het |
| Pipox |
T |
C |
11: 77,774,735 (GRCm39) |
D116G |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,774,236 (GRCm39) |
R993H |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,702,611 (GRCm39) |
N1108K |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,637,202 (GRCm39) |
R291Q |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,134,309 (GRCm39) |
Y277N |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,433,252 (GRCm39) |
L171Q |
probably damaging |
Het |
| Sfta2 |
A |
G |
17: 35,912,666 (GRCm39) |
E14G |
unknown |
Het |
| Sh3rf3 |
T |
A |
10: 58,885,177 (GRCm39) |
S353R |
possibly damaging |
Het |
| Slc37a1 |
A |
T |
17: 31,541,233 (GRCm39) |
I242F |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,621,762 (GRCm39) |
D274E |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,959,127 (GRCm39) |
S685R |
possibly damaging |
Het |
| Tenm4 |
A |
C |
7: 96,544,383 (GRCm39) |
D2170A |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,691,265 (GRCm39) |
T472A |
probably damaging |
Het |
| Tspan9 |
T |
C |
6: 127,942,241 (GRCm39) |
H203R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,601,995 (GRCm39) |
T18556A |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,868,569 (GRCm39) |
Y323* |
probably null |
Het |
| Usp31 |
G |
T |
7: 121,248,249 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,058 (GRCm39) |
T611S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,864,317 (GRCm39) |
V552A |
|
Het |
| Zap70 |
G |
T |
1: 36,810,262 (GRCm39) |
R124L |
possibly damaging |
Het |
| Zfand6 |
A |
T |
7: 84,281,957 (GRCm39) |
S91T |
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 |
|
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 |
|
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'- ACTACAGTTTATGGTTGCTAGAGTCTG -3'
(R):5'- AAACAGCCTCCCATTGTCTC -3'
Sequencing Primer
(F):5'- GTAGCTTTGTAGCTCACCT -3'
(R):5'- AGCCTCCCATTGTCTCAATGTAAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation