Incidental Mutation 'R8141:Rasal2'
| ID |
632510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
067569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156992240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 569
(D569G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078308
AA Change: D569G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: D569G
| 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: ENSMUST00000132699
AA Change: D551G
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: D551G
| 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: 98.3%
- 20x: 90.7%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,688 (GRCm39) |
T229A |
probably benign |
Het |
| 4930438A08Rik |
A |
G |
11: 58,177,411 (GRCm39) |
E40G |
|
Het |
| Actn2 |
T |
C |
13: 12,303,516 (GRCm39) |
D428G |
probably damaging |
Het |
| Arl14epl |
C |
A |
18: 47,059,410 (GRCm39) |
N8K |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,757,636 (GRCm39) |
V226A |
probably benign |
Het |
| C1s1 |
A |
T |
6: 124,508,321 (GRCm39) |
L556Q |
probably damaging |
Het |
| Casr |
T |
C |
16: 36,315,173 (GRCm39) |
K966E |
probably damaging |
Het |
| Ccm2l |
T |
C |
2: 152,912,791 (GRCm39) |
L110P |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,873,991 (GRCm39) |
R59H |
|
Het |
| Celf3 |
C |
A |
3: 94,395,850 (GRCm39) |
N410K |
probably damaging |
Het |
| Cfap251 |
T |
G |
5: 123,424,493 (GRCm39) |
V726G |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Fam53b |
A |
C |
7: 132,361,758 (GRCm39) |
V90G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,908,362 (GRCm39) |
I2547F |
possibly damaging |
Het |
| Foxk1 |
A |
G |
5: 142,439,716 (GRCm39) |
Y524C |
probably damaging |
Het |
| Gpr87 |
A |
G |
3: 59,087,020 (GRCm39) |
S162P |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,583,189 (GRCm39) |
V343A |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,237,949 (GRCm39) |
L744P |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,491,608 (GRCm39) |
K359N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,961,599 (GRCm39) |
K1459* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,993,735 (GRCm39) |
W507* |
probably null |
Het |
| Klra17 |
T |
C |
6: 129,849,292 (GRCm39) |
D94G |
probably damaging |
Het |
| Llgl1 |
G |
C |
11: 60,601,142 (GRCm39) |
E693D |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,855 (GRCm39) |
T38A |
unknown |
Het |
| Lypd4 |
A |
T |
7: 24,564,254 (GRCm39) |
D201E |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,076,795 (GRCm39) |
S1794P |
|
Het |
| Oog2 |
T |
C |
4: 143,920,777 (GRCm39) |
L70P |
probably damaging |
Het |
| Or6n2 |
T |
C |
1: 173,897,488 (GRCm39) |
L208P |
probably damaging |
Het |
| Pacsin1 |
G |
T |
17: 27,926,034 (GRCm39) |
R282S |
possibly damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,535,361 (GRCm39) |
Y452N |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,338,387 (GRCm39) |
V547A |
possibly damaging |
Het |
| Plcb4 |
T |
C |
2: 135,781,169 (GRCm39) |
F209L |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,571,384 (GRCm39) |
S158P |
probably benign |
Het |
| Prlhr |
C |
G |
19: 60,455,747 (GRCm39) |
R273P |
probably damaging |
Het |
| Prss41 |
G |
A |
17: 24,056,607 (GRCm39) |
P196L |
probably damaging |
Het |
| Ptgr3 |
T |
C |
18: 84,112,651 (GRCm39) |
L109P |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,793,643 (GRCm39) |
E598G |
possibly damaging |
Het |
| Sf3b3 |
A |
C |
8: 111,547,483 (GRCm39) |
M715R |
possibly damaging |
Het |
| Ska1 |
T |
C |
18: 74,339,907 (GRCm39) |
N13S |
probably benign |
Het |
| Spocd1 |
A |
C |
4: 129,823,497 (GRCm39) |
E98A |
|
Het |
| Sycp1 |
G |
T |
3: 102,842,885 (GRCm39) |
A28E |
possibly damaging |
Het |
| Syf2 |
C |
T |
4: 134,664,182 (GRCm39) |
R199C |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,108,442 (GRCm39) |
D942G |
possibly damaging |
Het |
| Tamalin |
T |
A |
15: 101,129,790 (GRCm39) |
C358S |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,801,776 (GRCm39) |
T764A |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 28,957,238 (GRCm39) |
Q503* |
probably null |
Het |
| Usp13 |
T |
C |
3: 32,949,025 (GRCm39) |
V454A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,652,472 (GRCm39) |
T50A |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,331 (GRCm39) |
C1382S |
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 |
|
R8140:Rasal2
|
UTSW |
1 |
157,126,805 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CCTGCTTAGAGTGAAGGGTG -3'
(R):5'- CAGTACATGGGTGGAGTTAGC -3'
Sequencing Primer
(F):5'- CTTAGAGTGAAGGGTGACATTTAAAC -3'
(R):5'- AGTTAGCTGTTAGGTTCTAAAGCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation