Incidental Mutation 'R0456:Rasal2'
| ID |
39993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
038656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156977413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1087
(N1087S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078308
AA Change: N1112S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: N1112S
| 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: N1087S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: N1087S
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,429,036 (GRCm39) |
P11L |
probably damaging |
Het |
| Antxr1 |
A |
C |
6: 87,194,257 (GRCm39) |
V347G |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,051,492 (GRCm39) |
N1127D |
probably benign |
Het |
| Bivm |
T |
A |
1: 44,165,969 (GRCm39) |
W140R |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,494,776 (GRCm39) |
V928A |
possibly damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,795 (GRCm39) |
Y152H |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,550 (GRCm39) |
I268F |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,839,100 (GRCm39) |
N439K |
probably damaging |
Het |
| Csf3r |
C |
A |
4: 125,929,654 (GRCm39) |
N392K |
probably damaging |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,704 (GRCm39) |
I484V |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,169 (GRCm39) |
K280E |
probably damaging |
Het |
| Eefsec |
A |
G |
6: 88,274,870 (GRCm39) |
Y365H |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,142,843 (GRCm39) |
|
probably null |
Het |
| Erap1 |
G |
A |
13: 74,812,339 (GRCm39) |
V385I |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,482,571 (GRCm39) |
I3077F |
probably damaging |
Het |
| Fras1 |
T |
G |
5: 96,862,202 (GRCm39) |
|
probably null |
Het |
| Fras1 |
G |
T |
5: 96,702,647 (GRCm39) |
G230C |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,682 (GRCm39) |
M182T |
possibly damaging |
Het |
| Gzmg |
A |
G |
14: 56,395,779 (GRCm39) |
V60A |
probably damaging |
Het |
| H4c6 |
T |
C |
13: 23,735,561 (GRCm39) |
D86G |
probably damaging |
Het |
| Hapln4 |
A |
T |
8: 70,537,645 (GRCm39) |
Y113F |
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,471,677 (GRCm39) |
T274S |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,774,885 (GRCm39) |
H302L |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,500,893 (GRCm39) |
V118A |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,823,270 (GRCm39) |
S41P |
possibly damaging |
Het |
| Krt23 |
A |
G |
11: 99,377,604 (GRCm39) |
V134A |
probably benign |
Het |
| Lamb1 |
G |
A |
12: 31,354,729 (GRCm39) |
C992Y |
probably damaging |
Het |
| Lrif1 |
C |
T |
3: 106,639,094 (GRCm39) |
P35S |
probably benign |
Het |
| Lrrc4 |
A |
G |
6: 28,831,103 (GRCm39) |
S171P |
probably damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,883 (GRCm39) |
|
probably null |
Het |
| Matr3 |
T |
A |
18: 35,705,917 (GRCm39) |
F281I |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,495,162 (GRCm39) |
F199I |
probably damaging |
Het |
| Nxn |
G |
A |
11: 76,153,963 (GRCm39) |
Q291* |
probably null |
Het |
| Or5b113 |
A |
G |
19: 13,342,102 (GRCm39) |
T37A |
probably damaging |
Het |
| Pdp2 |
G |
T |
8: 105,320,421 (GRCm39) |
R90L |
probably damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,711,291 (GRCm39) |
E160* |
probably null |
Het |
| Ppp2r5c |
T |
G |
12: 110,489,013 (GRCm39) |
S118R |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,218,861 (GRCm39) |
|
probably null |
Het |
| Ptpro |
G |
T |
6: 137,391,228 (GRCm39) |
V783L |
probably benign |
Het |
| Rab40c |
A |
G |
17: 26,103,631 (GRCm39) |
V144A |
possibly damaging |
Het |
| Rfc3 |
T |
A |
5: 151,570,988 (GRCm39) |
S103C |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,155,823 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rit2 |
A |
T |
18: 31,108,504 (GRCm39) |
F160L |
probably benign |
Het |
| Rnh1 |
A |
G |
7: 140,742,461 (GRCm39) |
S366P |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,682,292 (GRCm39) |
Y2029C |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,986,288 (GRCm39) |
I505F |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,642,483 (GRCm39) |
S379C |
possibly damaging |
Het |
| Sult1e1 |
A |
G |
5: 87,726,493 (GRCm39) |
L207P |
possibly damaging |
Het |
| Sycp2 |
C |
G |
2: 178,023,648 (GRCm39) |
S456T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,292,252 (GRCm39) |
T1339A |
probably benign |
Het |
| Tas2r117 |
A |
G |
6: 132,780,354 (GRCm39) |
N164S |
probably benign |
Het |
| Tigd3 |
A |
G |
19: 5,942,821 (GRCm39) |
L103P |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,788 (GRCm39) |
S965P |
probably damaging |
Het |
| Tmem82 |
T |
C |
4: 141,344,701 (GRCm39) |
T81A |
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,685,618 (GRCm39) |
T156A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,982 (GRCm39) |
E198G |
probably benign |
Het |
| Tnpo2 |
A |
G |
8: 85,781,045 (GRCm39) |
N767S |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,104,102 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tst |
A |
G |
15: 78,289,780 (GRCm39) |
V85A |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,507,507 (GRCm39) |
N503K |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,590,435 (GRCm39) |
M2346I |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,388 (GRCm39) |
D37G |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,665 (GRCm39) |
L79* |
probably null |
Het |
| Zbtb3 |
A |
T |
19: 8,780,564 (GRCm39) |
D59V |
probably damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,602 (GRCm39) |
F182S |
probably benign |
Het |
| Zfp426 |
A |
G |
9: 20,381,593 (GRCm39) |
F465L |
probably damaging |
Het |
| Zfp526 |
A |
G |
7: 24,925,637 (GRCm39) |
E632G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTACACAGTGAATCCCAAGCCAG -3'
(R):5'- TCAGCAGCAGCCAGTTCTTTAATCC -3'
Sequencing Primer
(F):5'- GGTTCTACCTTTTCAGCATGCTTG -3'
(R):5'- GCCCTGGCACTGATAGATTATTAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation