Incidental Mutation 'IGL03351:Rasal2'
| ID |
419733 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 157020311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000129880]
[ENSMUST00000132699]
[ENSMUST00000134543]
[ENSMUST00000143358]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably benign
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: ENSMUST00000129880
|
| SMART Domains |
Protein: ENSMUSP00000118367
Gene: ENSMUSG00000070565
| 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
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134543
|
| SMART Domains |
Protein: ENSMUSP00000119623
Gene: ENSMUSG00000070565
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
45 |
160 |
8.46e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143358
|
| SMART Domains |
Protein: ENSMUSP00000116974
Gene: ENSMUSG00000070565
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
147 |
2e-83 |
BLAST |
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,561,427 (GRCm39) |
D251E |
probably benign |
Het |
| 5730460C07Rik |
C |
T |
3: 153,495,595 (GRCm39) |
|
noncoding transcript |
Het |
| Coch |
G |
A |
12: 51,649,989 (GRCm39) |
R326Q |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,270,126 (GRCm39) |
V366A |
probably benign |
Het |
| Csf1r |
C |
T |
18: 61,250,180 (GRCm39) |
Q382* |
probably null |
Het |
| Csta1 |
C |
A |
16: 35,951,411 (GRCm39) |
G4* |
probably null |
Het |
| Cts7 |
T |
C |
13: 61,504,417 (GRCm39) |
R49G |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,220,522 (GRCm39) |
V575A |
probably benign |
Het |
| Ero1a |
G |
T |
14: 45,531,990 (GRCm39) |
N227K |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,094,734 (GRCm39) |
C58* |
probably null |
Het |
| Hfm1 |
G |
A |
5: 107,059,441 (GRCm39) |
Q194* |
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,319 (GRCm39) |
Y285N |
probably damaging |
Het |
| Hyal6 |
G |
A |
6: 24,743,428 (GRCm39) |
G375R |
probably damaging |
Het |
| Itgb5 |
T |
C |
16: 33,730,922 (GRCm39) |
S93P |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,633,442 (GRCm39) |
M205K |
probably damaging |
Het |
| Kdm6a |
C |
T |
X: 18,113,343 (GRCm39) |
Q92* |
probably null |
Het |
| Klhl38 |
A |
G |
15: 58,186,726 (GRCm39) |
M1T |
probably null |
Het |
| Krtap7-1 |
T |
C |
16: 89,304,884 (GRCm39) |
|
probably benign |
Het |
| L1cam |
T |
C |
X: 72,906,634 (GRCm39) |
T270A |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,598,015 (GRCm39) |
N45S |
probably benign |
Het |
| Magea13 |
G |
A |
X: 57,964,297 (GRCm39) |
V19I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,565,970 (GRCm39) |
I424V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,194,739 (GRCm39) |
Q1650R |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,275,483 (GRCm39) |
E313V |
possibly damaging |
Het |
| Nipsnap3a |
A |
G |
4: 52,994,134 (GRCm39) |
T74A |
probably benign |
Het |
| Npr2 |
G |
T |
4: 43,640,652 (GRCm39) |
M368I |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,466,224 (GRCm39) |
T445A |
probably benign |
Het |
| Or14a256 |
A |
G |
7: 86,264,885 (GRCm39) |
Y323H |
possibly damaging |
Het |
| Or52r1b |
A |
G |
7: 102,691,337 (GRCm39) |
D212G |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,606 (GRCm39) |
T73A |
probably benign |
Het |
| Pole |
A |
G |
5: 110,449,864 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,088,391 (GRCm39) |
G644D |
probably benign |
Het |
| Pramel23 |
G |
A |
4: 143,423,658 (GRCm39) |
T377I |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,487 (GRCm39) |
Y1161H |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,744,943 (GRCm39) |
K264N |
probably damaging |
Het |
| Serpina6 |
A |
T |
12: 103,613,172 (GRCm39) |
I376N |
probably damaging |
Het |
| Setx |
T |
G |
2: 29,051,811 (GRCm39) |
I2062M |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,363,531 (GRCm39) |
D99G |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,401 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,451,154 (GRCm39) |
Y309H |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,024,595 (GRCm39) |
D1178G |
probably damaging |
Het |
| Trav5-1 |
G |
A |
14: 52,860,302 (GRCm39) |
E36K |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,535,099 (GRCm39) |
V274A |
probably benign |
Het |
| Vmn1r29 |
A |
T |
6: 58,284,735 (GRCm39) |
S152C |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,235,199 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
G |
13: 65,443,967 (GRCm39) |
L370R |
possibly damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,173 (GRCm39) |
Y234C |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation