Incidental Mutation 'R4894:Rasal2'
| ID |
377457 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 157020374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 205
(S205L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000129880]
[ENSMUST00000132699]
[ENSMUST00000134543]
[ENSMUST00000143358]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078308
AA Change: S205L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: S205L
| 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: S141L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118367
Gene: ENSMUSG00000070565
AA Change: S141L
| 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: S187L
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: S187L
| 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: S58L
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119623
Gene: ENSMUSG00000070565
AA Change: S58L
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
45 |
160 |
8.46e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143358
AA Change: S77L
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116974
Gene: ENSMUSG00000070565
AA Change: S77L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
147 |
2e-83 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
C |
A |
17: 43,609,975 (GRCm39) |
Y176* |
probably null |
Het |
| Akap13 |
T |
A |
7: 75,375,068 (GRCm39) |
M1900K |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,585,332 (GRCm39) |
E381G |
probably damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,891,183 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
G |
T |
1: 154,364,551 (GRCm39) |
S341* |
probably null |
Het |
| Camk1d |
G |
A |
2: 5,359,539 (GRCm39) |
S161L |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,173,630 (GRCm39) |
H1619Q |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,838,629 (GRCm39) |
I1276N |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,719,662 (GRCm39) |
V436A |
probably damaging |
Het |
| Ctcfl |
G |
A |
2: 172,959,196 (GRCm39) |
P177S |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,620,539 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Epc1 |
A |
T |
18: 6,449,011 (GRCm39) |
S495R |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,230,758 (GRCm39) |
|
probably null |
Het |
| Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
| Fam111a |
C |
G |
19: 12,565,913 (GRCm39) |
T554R |
probably benign |
Het |
| Fbh1 |
A |
T |
2: 11,767,771 (GRCm39) |
I359N |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,490,751 (GRCm39) |
C1023R |
probably damaging |
Het |
| Helz2 |
G |
C |
2: 180,877,940 (GRCm39) |
P953A |
probably benign |
Het |
| Ifi204 |
G |
T |
1: 173,587,808 (GRCm39) |
S117Y |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,810,088 (GRCm39) |
*665W |
probably null |
Het |
| Igfn1 |
G |
A |
1: 135,882,520 (GRCm39) |
T2775M |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,325,634 (GRCm39) |
T1101A |
probably benign |
Het |
| Ipo13 |
A |
C |
4: 117,760,638 (GRCm39) |
I614S |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,761,687 (GRCm39) |
I476T |
possibly damaging |
Het |
| Kdm2b |
C |
A |
5: 123,079,030 (GRCm39) |
E308* |
probably null |
Het |
| Klhl20 |
A |
T |
1: 160,937,102 (GRCm39) |
M91K |
possibly damaging |
Het |
| Klrb1f |
T |
C |
6: 129,030,151 (GRCm39) |
F64L |
probably benign |
Het |
| Ldlrad3 |
C |
T |
2: 101,888,293 (GRCm39) |
C106Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,915,530 (GRCm39) |
T161A |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 102,997,613 (GRCm39) |
M1334K |
possibly damaging |
Het |
| Mepe |
C |
G |
5: 104,473,268 (GRCm39) |
P3R |
probably damaging |
Het |
| Mgat4e |
A |
G |
1: 134,468,856 (GRCm39) |
V396A |
probably benign |
Het |
| Nfx1 |
T |
G |
4: 40,996,877 (GRCm39) |
S651A |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,639,483 (GRCm39) |
C100S |
probably damaging |
Het |
| Or2w6 |
T |
C |
13: 21,843,352 (GRCm39) |
N47S |
probably damaging |
Het |
| Or4c109 |
T |
C |
2: 88,817,783 (GRCm39) |
I254M |
possibly damaging |
Het |
| Rag2 |
T |
C |
2: 101,460,022 (GRCm39) |
S111P |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,077,572 (GRCm39) |
D545E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,033,115 (GRCm39) |
V498A |
possibly damaging |
Het |
| Rec8 |
T |
C |
14: 55,862,787 (GRCm39) |
L582P |
probably damaging |
Het |
| Retn |
G |
A |
8: 3,707,358 (GRCm39) |
R106H |
probably damaging |
Het |
| Rnf112 |
A |
G |
11: 61,343,488 (GRCm39) |
L116P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,372,066 (GRCm39) |
Y4885H |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,409 (GRCm39) |
I399M |
probably benign |
Het |
| Sez6 |
G |
T |
11: 77,866,086 (GRCm39) |
G738V |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,872,643 (GRCm39) |
V56A |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,849,542 (GRCm39) |
V862D |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,671,768 (GRCm39) |
|
probably null |
Het |
| Srpk2 |
C |
A |
5: 23,750,527 (GRCm39) |
G59W |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,632,779 (GRCm39) |
S96P |
probably damaging |
Het |
| Ube2v1 |
A |
G |
2: 167,452,280 (GRCm39) |
S108P |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 43,987,125 (GRCm39) |
S141L |
probably benign |
Het |
| Vamp5 |
T |
C |
6: 72,347,181 (GRCm39) |
D46G |
possibly damaging |
Het |
| Vmn1r23 |
T |
A |
6: 57,903,310 (GRCm39) |
Q156L |
probably benign |
Het |
| Vmn2r6 |
C |
T |
3: 64,454,829 (GRCm39) |
S490N |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,183,440 (GRCm39) |
I10N |
probably damaging |
Het |
| Vwf |
C |
T |
6: 125,622,897 (GRCm39) |
Q1755* |
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,877,717 (GRCm39) |
H82Q |
probably benign |
Het |
| Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
| Wdr72 |
A |
G |
9: 74,117,843 (GRCm39) |
T852A |
probably benign |
Het |
| Zfp1 |
T |
A |
8: 112,396,355 (GRCm39) |
C92* |
probably null |
Het |
| Zfp1004 |
T |
A |
2: 150,033,899 (GRCm39) |
C104* |
probably null |
Het |
| Zfp426 |
A |
T |
9: 20,386,369 (GRCm39) |
|
probably benign |
Het |
| Zfp442 |
C |
T |
2: 150,253,130 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
T |
C |
7: 29,635,470 (GRCm39) |
|
probably benign |
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 |
|
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'- AGCGCCTTACCAAAATTCGC -3'
(R):5'- CAGGGACTTCGCACATGTTG -3'
Sequencing Primer
(F):5'- AATTCGCACTGTGCTAGACATGG -3'
(R):5'- AAATCATGAGGTGTCATTTCTGTTGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation