Incidental Mutation 'R1109:Rasal2'
ID |
98590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasal2
|
Ensembl Gene |
ENSMUSG00000070565 |
Gene Name |
RAS protein activator like 2 |
Synonyms |
A330066M24Rik |
MMRRC Submission |
039182-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1109 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 157005208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 |
noncoding transcript
Transcript: ENSMUST00000128538
|
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 |
probably benign
Transcript: ENSMUST00000143358
|
SMART Domains |
Protein: ENSMUSP00000116974 Gene: ENSMUSG00000070565
Domain | Start | End | E-Value | Type |
Blast:PH
|
1 |
147 |
2e-83 |
BLAST |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.9%
|
Validation Efficiency |
100% (80/80) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
T |
G |
3: 121,573,245 (GRCm39) |
E262D |
probably damaging |
Het |
Abcg1 |
G |
A |
17: 31,330,210 (GRCm39) |
A504T |
probably benign |
Het |
Acot11 |
T |
C |
4: 106,606,545 (GRCm39) |
T515A |
probably benign |
Het |
Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
Arhgap44 |
T |
A |
11: 64,917,642 (GRCm39) |
H375L |
probably benign |
Het |
Aspm |
A |
T |
1: 139,384,496 (GRCm39) |
I98F |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,305,719 (GRCm39) |
|
probably benign |
Het |
Coa3 |
T |
C |
11: 101,169,611 (GRCm39) |
K48R |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,607,005 (GRCm39) |
S473P |
probably damaging |
Het |
Dnmt1 |
A |
T |
9: 20,833,684 (GRCm39) |
Y451N |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,043,927 (GRCm39) |
Y819H |
possibly damaging |
Het |
Dtx1 |
G |
A |
5: 120,848,484 (GRCm39) |
|
probably benign |
Het |
Dus2 |
T |
A |
8: 106,780,114 (GRCm39) |
F479I |
probably benign |
Het |
Elp1 |
T |
C |
4: 56,786,723 (GRCm39) |
T407A |
probably benign |
Het |
Esrp1 |
T |
C |
4: 11,365,205 (GRCm39) |
E262G |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,418,951 (GRCm39) |
Y466C |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,703,150 (GRCm39) |
F1625S |
possibly damaging |
Het |
Fbxw25 |
A |
T |
9: 109,479,128 (GRCm39) |
H374Q |
probably benign |
Het |
Focad |
T |
C |
4: 88,114,984 (GRCm39) |
|
probably benign |
Het |
Gad2 |
G |
T |
2: 22,571,406 (GRCm39) |
R448L |
probably damaging |
Het |
Gad2 |
G |
A |
2: 22,580,171 (GRCm39) |
|
probably benign |
Het |
Galnt16 |
G |
T |
12: 80,637,405 (GRCm39) |
E377D |
probably benign |
Het |
Gcc1 |
A |
C |
6: 28,419,166 (GRCm39) |
L389R |
probably damaging |
Het |
Ggct |
A |
T |
6: 54,966,554 (GRCm39) |
|
probably benign |
Het |
Gm7052 |
G |
A |
17: 22,259,133 (GRCm39) |
|
probably benign |
Het |
Gps2 |
T |
A |
11: 69,806,507 (GRCm39) |
H177Q |
possibly damaging |
Het |
Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
Il36a |
G |
A |
2: 24,106,602 (GRCm39) |
G62E |
probably damaging |
Het |
Il3ra |
C |
T |
14: 14,349,317 (GRCm38) |
R138W |
probably damaging |
Het |
Itprid1 |
G |
T |
6: 55,945,245 (GRCm39) |
K655N |
probably damaging |
Het |
Kdm4b |
T |
A |
17: 56,706,430 (GRCm39) |
I848N |
probably damaging |
Het |
L3hypdh |
A |
G |
12: 72,120,770 (GRCm39) |
V327A |
possibly damaging |
Het |
Lepr |
G |
T |
4: 101,628,552 (GRCm39) |
L552F |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,740,941 (GRCm39) |
I449T |
probably damaging |
Het |
Lrrn1 |
A |
G |
6: 107,544,225 (GRCm39) |
K8E |
probably benign |
Het |
Mex3a |
G |
T |
3: 88,443,967 (GRCm39) |
D348Y |
possibly damaging |
Het |
Mindy2 |
G |
A |
9: 70,538,361 (GRCm39) |
R325* |
probably null |
Het |
Mkrn1 |
A |
T |
6: 39,376,268 (GRCm39) |
M382K |
probably damaging |
Het |
Mroh1 |
G |
T |
15: 76,330,709 (GRCm39) |
|
probably benign |
Het |
Myo15a |
T |
A |
11: 60,383,892 (GRCm39) |
D1646E |
probably damaging |
Het |
Neu2 |
A |
G |
1: 87,524,450 (GRCm39) |
D145G |
probably damaging |
Het |
Obi1 |
A |
T |
14: 104,717,200 (GRCm39) |
L391* |
probably null |
Het |
Or10ah1-ps1 |
A |
T |
5: 143,123,374 (GRCm39) |
N216K |
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or2w3b |
T |
C |
11: 58,623,742 (GRCm39) |
Y83C |
probably benign |
Het |
Plekhm2 |
T |
A |
4: 141,355,295 (GRCm39) |
I938F |
probably benign |
Het |
Pnma8a |
A |
T |
7: 16,695,392 (GRCm39) |
K416* |
probably null |
Het |
Ppid |
T |
C |
3: 79,506,168 (GRCm39) |
S198P |
probably benign |
Het |
Rabl6 |
G |
T |
2: 25,477,538 (GRCm39) |
P304Q |
probably damaging |
Het |
Ripor1 |
G |
T |
8: 106,345,560 (GRCm39) |
|
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,054,124 (GRCm39) |
L658Q |
probably damaging |
Het |
Safb |
T |
A |
17: 56,908,228 (GRCm39) |
|
probably benign |
Het |
Sf3b5 |
T |
C |
10: 12,884,497 (GRCm39) |
M44T |
probably benign |
Het |
Slc26a9 |
A |
T |
1: 131,686,536 (GRCm39) |
M419L |
probably benign |
Het |
Slc38a8 |
T |
C |
8: 120,209,394 (GRCm39) |
D393G |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,705,199 (GRCm39) |
D230G |
probably benign |
Het |
Smc1b |
T |
C |
15: 84,997,016 (GRCm39) |
T535A |
probably damaging |
Het |
Smg7 |
G |
C |
1: 152,721,334 (GRCm39) |
P626R |
probably damaging |
Het |
Smu1 |
C |
T |
4: 40,755,722 (GRCm39) |
V48M |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,934,667 (GRCm39) |
Y650H |
possibly damaging |
Het |
Spata1 |
C |
T |
3: 146,181,053 (GRCm39) |
V302I |
possibly damaging |
Het |
Sptb |
G |
A |
12: 76,650,377 (GRCm39) |
A1780V |
probably damaging |
Het |
Srrm2 |
G |
A |
17: 24,038,591 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
C |
6: 48,474,377 (GRCm39) |
N4933H |
probably damaging |
Het |
Sult2a2 |
T |
C |
7: 13,468,798 (GRCm39) |
I88T |
probably benign |
Het |
Tgfa |
G |
T |
6: 86,247,072 (GRCm39) |
|
probably benign |
Het |
Thsd1 |
T |
A |
8: 22,733,708 (GRCm39) |
C252S |
possibly damaging |
Het |
Tmem102 |
T |
A |
11: 69,695,630 (GRCm39) |
H114L |
probably damaging |
Het |
Tnni3k |
T |
A |
3: 154,498,414 (GRCm39) |
K808N |
possibly damaging |
Het |
Trpm7 |
G |
T |
2: 126,639,713 (GRCm39) |
L1628M |
probably benign |
Het |
Ttn |
A |
G |
2: 76,561,081 (GRCm39) |
Y29107H |
probably damaging |
Het |
Upb1 |
T |
C |
10: 75,273,999 (GRCm39) |
L342P |
probably damaging |
Het |
Vmn2r120 |
T |
C |
17: 57,832,829 (GRCm39) |
T117A |
probably benign |
Het |
Vmn2r16 |
A |
G |
5: 109,487,652 (GRCm39) |
D175G |
probably damaging |
Het |
Vps35l |
A |
T |
7: 118,374,552 (GRCm39) |
I351F |
probably damaging |
Het |
Zfhx4 |
T |
G |
3: 5,464,930 (GRCm39) |
M1696R |
possibly damaging |
Het |
Zfp746 |
A |
G |
6: 48,041,856 (GRCm39) |
V289A |
possibly damaging |
Het |
Zfyve26 |
A |
C |
12: 79,318,901 (GRCm39) |
F1146V |
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 |
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'- CCAGTTTTGTGTGGGTTGCTGAACA -3'
(R):5'- GTTGTGCTGATGCCTTTCAACTTCC -3'
Sequencing Primer
(F):5'- ACATTGGCTGTGTATTTCTTAATCC -3'
(R):5'- agccatctctccagccc -3'
|
Posted On |
2014-01-05 |