Incidental Mutation 'R7558:Rasal2'
ID |
584869 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasal2
|
Ensembl Gene |
ENSMUSG00000070565 |
Gene Name |
RAS protein activator like 2 |
Synonyms |
A330066M24Rik |
MMRRC Submission |
045625-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7558 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 157003406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 436
(R436C)
|
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: R436C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000077423 Gene: ENSMUSG00000070565 AA Change: R436C
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 damaging
Transcript: ENSMUST00000132699
AA Change: R418C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114964 Gene: ENSMUSG00000070565 AA Change: R418C
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
G |
T |
11: 23,466,285 (GRCm39) |
|
probably null |
Het |
Adgrg6 |
A |
T |
10: 14,307,351 (GRCm39) |
M817K |
probably damaging |
Het |
Adh6b |
T |
A |
3: 138,058,297 (GRCm39) |
D53E |
probably benign |
Het |
Ap3d1 |
A |
G |
10: 80,558,755 (GRCm39) |
V283A |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,860,421 (GRCm39) |
Y1329H |
probably damaging |
Het |
B3gnt9 |
T |
C |
8: 105,981,304 (GRCm39) |
Y28C |
probably benign |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Chrd |
T |
A |
16: 20,557,304 (GRCm39) |
V641E |
probably damaging |
Het |
Clvs2 |
A |
T |
10: 33,419,460 (GRCm39) |
I198N |
probably damaging |
Het |
Cplane1 |
C |
T |
15: 8,254,851 (GRCm39) |
R13C |
unknown |
Het |
Dbndd2 |
T |
C |
2: 164,332,136 (GRCm39) |
S120P |
probably benign |
Het |
Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
Dsp |
A |
G |
13: 38,352,742 (GRCm39) |
M207V |
probably benign |
Het |
Fignl2 |
T |
C |
15: 100,952,264 (GRCm39) |
E6G |
probably damaging |
Het |
Fmod |
A |
G |
1: 133,968,731 (GRCm39) |
Y257C |
probably benign |
Het |
Foxk2 |
T |
C |
11: 121,178,884 (GRCm39) |
S239P |
probably benign |
Het |
Fstl5 |
C |
T |
3: 76,337,092 (GRCm39) |
T217I |
possibly damaging |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gm45140 |
G |
A |
6: 87,798,511 (GRCm39) |
S34F |
|
Het |
H2-Q6 |
A |
G |
17: 35,644,595 (GRCm39) |
E128G |
probably benign |
Het |
Hmmr |
A |
G |
11: 40,624,156 (GRCm39) |
F11L |
probably damaging |
Het |
Igfbpl1 |
G |
T |
4: 45,813,497 (GRCm39) |
N239K |
probably damaging |
Het |
Itpr2 |
G |
T |
6: 146,292,363 (GRCm39) |
D443E |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,450,928 (GRCm39) |
I736F |
probably damaging |
Het |
Kctd11 |
A |
T |
11: 69,770,416 (GRCm39) |
H207Q |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,600,746 (GRCm39) |
D462E |
probably damaging |
Het |
Kif5a |
G |
A |
10: 127,083,948 (GRCm39) |
T81I |
probably damaging |
Het |
Lemd2 |
C |
A |
17: 27,423,137 (GRCm39) |
A86S |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,231,948 (GRCm39) |
D1174G |
|
Het |
Lrrc8b |
G |
T |
5: 105,629,577 (GRCm39) |
W641L |
probably damaging |
Het |
Malt1 |
T |
C |
18: 65,595,905 (GRCm39) |
C438R |
probably damaging |
Het |
Marchf8 |
T |
C |
6: 116,380,526 (GRCm39) |
F126L |
possibly damaging |
Het |
Nalcn |
C |
A |
14: 123,723,797 (GRCm39) |
|
probably null |
Het |
Nyap2 |
A |
T |
1: 81,247,088 (GRCm39) |
T679S |
probably benign |
Het |
Or52n4b |
C |
G |
7: 108,143,928 (GRCm39) |
Y65* |
probably null |
Het |
Or5b3 |
T |
A |
19: 13,388,355 (GRCm39) |
C141S |
probably damaging |
Het |
Otog |
C |
A |
7: 45,952,584 (GRCm39) |
P419Q |
probably damaging |
Het |
Pabpc4 |
T |
G |
4: 123,188,413 (GRCm39) |
S341A |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,311,782 (GRCm39) |
H2006Q |
probably benign |
Het |
Ppp2r5e |
A |
T |
12: 75,511,766 (GRCm39) |
V319D |
probably damaging |
Het |
Ptk2b |
T |
C |
14: 66,391,628 (GRCm39) |
S969G |
possibly damaging |
Het |
Rpap1 |
A |
T |
2: 119,601,735 (GRCm39) |
F742I |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,329,746 (GRCm39) |
F7L |
|
Het |
Slc14a2 |
A |
G |
18: 78,235,334 (GRCm39) |
I143T |
probably benign |
Het |
Slc22a26 |
T |
A |
19: 7,762,651 (GRCm39) |
M430L |
possibly damaging |
Het |
Smarcc1 |
C |
A |
9: 109,976,184 (GRCm39) |
T157K |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,204,991 (GRCm39) |
I375T |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,800,302 (GRCm39) |
I609V |
possibly damaging |
Het |
Tnk2 |
C |
A |
16: 32,498,903 (GRCm39) |
Q739K |
probably benign |
Het |
Trio |
T |
A |
15: 27,831,480 (GRCm39) |
I1340F |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,756,029 (GRCm39) |
F91L |
probably damaging |
Het |
Vax1 |
T |
C |
19: 59,158,416 (GRCm39) |
T16A |
unknown |
Het |
Vps13d |
T |
G |
4: 144,881,150 (GRCm39) |
H1481P |
|
Het |
Zbtb7a |
A |
G |
10: 80,984,269 (GRCm39) |
*570W |
probably null |
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 |
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'- TTTGCACATGGTAAGGAAGGAC -3'
(R):5'- ACCTCTTCATAGCATCACGG -3'
Sequencing Primer
(F):5'- GGTAACATACCCCTTTTGACTTAC -3'
(R):5'- CACGGTTCATATTTATAAGGATGTGG -3'
|
Posted On |
2019-10-17 |