Incidental Mutation 'R9021:Rasal2'
| ID |
686182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
068851-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 157058514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 12
(V12D)
|
| 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 |
unknown
Transcript: ENSMUST00000143358
AA Change: V12D
|
| SMART Domains |
Protein: ENSMUSP00000116974
Gene: ENSMUSG00000070565
AA Change: V12D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
147 |
2e-83 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (64/65) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 104,003,864 (GRCm39) |
D770G |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,284,071 (GRCm39) |
G200D |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,253,999 (GRCm39) |
L170H |
possibly damaging |
Het |
| Asap3 |
T |
C |
4: 135,966,299 (GRCm39) |
|
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,094,712 (GRCm39) |
M595K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,052,493 (GRCm39) |
D3064E |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,445,679 (GRCm39) |
Y522* |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,448,877 (GRCm39) |
Y81F |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,091,393 (GRCm39) |
M1616K |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,797,042 (GRCm39) |
S374R |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,586,745 (GRCm39) |
F1759I |
possibly damaging |
Het |
| Crocc |
T |
A |
4: 140,749,674 (GRCm39) |
I1487F |
probably benign |
Het |
| Dll4 |
TC |
T |
2: 119,163,054 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,402,490 (GRCm39) |
I1230T |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,808 (GRCm39) |
I2518L |
possibly damaging |
Het |
| Eps8l2 |
G |
T |
7: 140,936,117 (GRCm39) |
V224L |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,830,971 (GRCm39) |
V13A |
probably benign |
Het |
| Fam78a |
T |
C |
2: 31,959,313 (GRCm39) |
M266V |
probably benign |
Het |
| Fam81a |
A |
G |
9: 70,017,538 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,709,620 (GRCm39) |
I245V |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,949,805 (GRCm39) |
V378A |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,888,609 (GRCm39) |
S2718R |
probably damaging |
Het |
| Gata3os |
T |
A |
2: 9,887,345 (GRCm39) |
|
probably benign |
Het |
| Gm14305 |
A |
G |
2: 176,413,167 (GRCm39) |
K353R |
possibly damaging |
Het |
| Inppl1 |
A |
C |
7: 101,480,915 (GRCm39) |
V315G |
probably damaging |
Het |
| Kbtbd6 |
A |
T |
14: 79,690,822 (GRCm39) |
I506F |
probably damaging |
Het |
| Klf6 |
G |
C |
13: 5,915,160 (GRCm39) |
G200R |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,518,930 (GRCm39) |
I45T |
probably benign |
Het |
| Lrriq4 |
T |
G |
3: 30,704,401 (GRCm39) |
V143G |
probably benign |
Het |
| Map2k2 |
G |
T |
10: 80,955,159 (GRCm39) |
G217C |
probably damaging |
Het |
| Mcm10 |
T |
C |
2: 4,997,782 (GRCm39) |
N813S |
probably benign |
Het |
| Mfng |
T |
A |
15: 78,657,348 (GRCm39) |
N42I |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,361,141 (GRCm39) |
D808G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,673,632 (GRCm39) |
F99L |
probably benign |
Het |
| Mroh8 |
A |
T |
2: 157,064,787 (GRCm39) |
V763E |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,551,752 (GRCm39) |
P193T |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,821,142 (GRCm39) |
D447G |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,807,284 (GRCm39) |
|
probably benign |
Het |
| Narf |
C |
A |
11: 121,136,209 (GRCm39) |
P195Q |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,818,745 (GRCm39) |
F496I |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,360,772 (GRCm39) |
Y225C |
probably damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,428 (GRCm39) |
Y118* |
probably null |
Het |
| Or11h4 |
T |
G |
14: 50,974,554 (GRCm39) |
I22L |
probably benign |
Het |
| Or2i1 |
G |
T |
17: 37,508,380 (GRCm39) |
R85S |
possibly damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,807,939 (GRCm39) |
A65V |
unknown |
Het |
| Pdcd2l |
A |
G |
7: 33,885,760 (GRCm39) |
L308P |
probably damaging |
Het |
| Pitx2 |
T |
A |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,980,183 (GRCm39) |
N180S |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,286,485 (GRCm39) |
M228L |
probably benign |
Het |
| Prex1 |
C |
A |
2: 166,432,429 (GRCm39) |
V707F |
possibly damaging |
Het |
| Ripk1 |
A |
G |
13: 34,205,373 (GRCm39) |
E284G |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,499,251 (GRCm39) |
W107R |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,954,177 (GRCm39) |
Y159C |
probably damaging |
Het |
| Serpina1a |
A |
T |
12: 103,824,293 (GRCm39) |
W30R |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,579 (GRCm39) |
V325A |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,371,396 (GRCm39) |
R294G |
probably benign |
Het |
| Supt5 |
A |
T |
7: 28,016,671 (GRCm39) |
I737N |
probably damaging |
Het |
| Thap11 |
T |
C |
8: 106,582,660 (GRCm39) |
V223A |
probably damaging |
Het |
| Trabd |
T |
A |
15: 88,968,913 (GRCm39) |
S144T |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,933,949 (GRCm39) |
S701T |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,986 (GRCm39) |
P215S |
possibly damaging |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,749 (GRCm39) |
L211F |
probably damaging |
Het |
| Vmn2r86 |
A |
C |
10: 130,282,934 (GRCm39) |
Y561D |
probably damaging |
Het |
| Zfp384 |
C |
A |
6: 125,013,336 (GRCm39) |
A468E |
|
Het |
| Zfp658 |
A |
G |
7: 43,223,381 (GRCm39) |
H552R |
possibly damaging |
Het |
| Zranb2 |
T |
C |
3: 157,250,720 (GRCm39) |
V297A |
unknown |
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 |
|
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 |
|
|
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'- ATAGACCAGCCTCTCCTTGC -3'
(R):5'- TTTTAAAGGCAGAACAGCAGGAATC -3'
Sequencing Primer
(F):5'- GCCTATATGACCTTACCACATTTTAC -3'
(R):5'- CAAAATGTCAGTCTCCGGAGTCATG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation