Incidental Mutation 'R5421:Rasal2'
| ID |
426537 |
| 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 # |
R5421 (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 157126711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 109
(K109R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078308
AA Change: K109R
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: K109R
| 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: ENSMUST00000132699
AA Change: K91R
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: K91R
| 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 |
noncoding transcript
Transcript: ENSMUST00000143080
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
T |
15: 74,421,876 (GRCm39) |
Q882L |
probably damaging |
Het |
| Afdn |
T |
C |
17: 14,052,668 (GRCm39) |
V525A |
probably benign |
Het |
| AI987944 |
T |
C |
7: 41,024,200 (GRCm39) |
T263A |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,363,271 (GRCm39) |
S31G |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,241,504 (GRCm39) |
S685P |
probably benign |
Het |
| Blnk |
C |
A |
19: 40,956,967 (GRCm39) |
V47F |
probably damaging |
Het |
| Bmp4 |
T |
A |
14: 46,623,355 (GRCm39) |
M64L |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,909,577 (GRCm39) |
V1017E |
possibly damaging |
Het |
| C1ra |
C |
T |
6: 124,499,749 (GRCm39) |
P645L |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,568,513 (GRCm39) |
C248* |
probably null |
Het |
| Cdk6 |
T |
C |
5: 3,523,120 (GRCm39) |
V180A |
probably damaging |
Het |
| Colec12 |
A |
T |
18: 9,858,580 (GRCm39) |
R454S |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,438,964 (GRCm39) |
S1111P |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,996,186 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,326,462 (GRCm39) |
T3613I |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,143,132 (GRCm39) |
Q115R |
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,545,655 (GRCm39) |
Y262H |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,047,690 (GRCm39) |
|
probably null |
Het |
| Flnb |
C |
T |
14: 7,926,494 (GRCm38) |
T1846I |
probably damaging |
Het |
| Folr2 |
C |
T |
7: 101,489,851 (GRCm39) |
R139H |
probably benign |
Het |
| Fxn |
A |
T |
19: 24,254,649 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
C |
2: 54,747,908 (GRCm39) |
N263T |
probably damaging |
Het |
| Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
| Htr5a |
G |
T |
5: 28,055,985 (GRCm39) |
W325C |
possibly damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,385 (GRCm39) |
Y772* |
probably null |
Het |
| Kif12 |
T |
C |
4: 63,089,665 (GRCm39) |
S59G |
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,836,473 (GRCm39) |
R96Q |
probably damaging |
Het |
| Klrd1 |
T |
C |
6: 129,575,406 (GRCm39) |
Y191H |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,428,008 (GRCm39) |
|
probably null |
Het |
| Nek1 |
A |
C |
8: 61,459,711 (GRCm39) |
R6S |
possibly damaging |
Het |
| Or4b13 |
G |
A |
2: 90,083,089 (GRCm39) |
T81I |
probably benign |
Het |
| Or5p68 |
G |
C |
7: 107,946,182 (GRCm39) |
A2G |
probably benign |
Het |
| Or6k8-ps1 |
C |
T |
1: 173,979,861 (GRCm39) |
R260* |
probably null |
Het |
| Palld |
C |
T |
8: 61,969,584 (GRCm39) |
E1005K |
probably damaging |
Het |
| Ppp2r1a |
T |
A |
17: 21,176,968 (GRCm39) |
Y169N |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,565,773 (GRCm39) |
D960G |
probably benign |
Het |
| Rad51ap2 |
A |
T |
12: 11,509,368 (GRCm39) |
K915* |
probably null |
Het |
| Rc3h1 |
G |
A |
1: 160,779,400 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
C |
T |
5: 146,147,339 (GRCm39) |
V560I |
probably benign |
Het |
| Samd8 |
A |
G |
14: 21,842,563 (GRCm39) |
D295G |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,803,813 (GRCm39) |
L337P |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,451,581 (GRCm39) |
Y245H |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,722,079 (GRCm39) |
F268L |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,346 (GRCm39) |
T420A |
probably damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,356 (GRCm39) |
T52S |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,043,095 (GRCm39) |
N1414D |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,911,261 (GRCm39) |
|
noncoding transcript |
Het |
| Syt9 |
T |
C |
7: 107,024,563 (GRCm39) |
V152A |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,666,261 (GRCm39) |
N261I |
probably benign |
Het |
| Tln1 |
G |
A |
4: 43,533,609 (GRCm39) |
A2315V |
possibly damaging |
Het |
| Tox |
C |
A |
4: 6,842,409 (GRCm39) |
M40I |
possibly damaging |
Het |
| Ucp1 |
G |
A |
8: 84,017,320 (GRCm39) |
A37T |
probably benign |
Het |
| Vapa |
A |
G |
17: 65,902,031 (GRCm39) |
V33A |
possibly damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,803,882 (GRCm39) |
L231S |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,401 (GRCm39) |
A768T |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,805 (GRCm39) |
T604A |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
| Wwc1 |
C |
T |
11: 35,801,123 (GRCm39) |
E105K |
possibly damaging |
Het |
| Wwc1 |
T |
G |
11: 35,766,890 (GRCm39) |
D455A |
possibly damaging |
Het |
| Zfp426 |
G |
A |
9: 20,382,015 (GRCm39) |
A309V |
probably damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,335 (GRCm39) |
N105K |
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 |
|
|
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 |
|
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'- AGATTCCACAACTTAATGCCTCTC -3'
(R):5'- TGGTGTACTAGGCATGAGAATG -3'
Sequencing Primer
(F):5'- AAGATCCAGTCTTGCCTGTG -3'
(R):5'- AGGCATGAGAATGGTTTATTAATTGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation