Incidental Mutation 'IGL01954:Rasal2'
ID |
181387 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01954
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 157003686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 324
(D324E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000129880]
[ENSMUST00000132699]
[ENSMUST00000134543]
[ENSMUST00000143358]
|
AlphaFold |
E9PW37 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078308
AA Change: D342E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000077423 Gene: ENSMUSG00000070565 AA Change: D342E
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 |
possibly damaging
Transcript: ENSMUST00000129880
AA Change: D278E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118367 Gene: ENSMUSG00000070565 AA Change: D278E
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: D324E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114964 Gene: ENSMUSG00000070565 AA Change: D324E
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,396,741 (GRCm39) |
D330E |
probably damaging |
Het |
Acsm3 |
T |
C |
7: 119,374,306 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
T |
A |
6: 118,535,966 (GRCm39) |
Y156F |
possibly damaging |
Het |
Bcr |
G |
A |
10: 75,011,173 (GRCm39) |
|
probably null |
Het |
Cpn2 |
C |
T |
16: 30,079,138 (GRCm39) |
A188T |
probably benign |
Het |
Ctdsp1 |
T |
C |
1: 74,433,242 (GRCm39) |
|
probably benign |
Het |
Cts7 |
T |
A |
13: 61,500,637 (GRCm39) |
R303S |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,971,388 (GRCm39) |
D59G |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,944,460 (GRCm39) |
W91R |
probably damaging |
Het |
Gpr149 |
T |
C |
3: 62,438,348 (GRCm39) |
N603S |
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,187,123 (GRCm39) |
I1099T |
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Ighv1-80 |
A |
T |
12: 115,876,253 (GRCm39) |
V21D |
probably benign |
Het |
Klhl18 |
T |
C |
9: 110,257,934 (GRCm39) |
Y432C |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,963,295 (GRCm39) |
D1289G |
probably benign |
Het |
Mab21l4 |
T |
A |
1: 93,079,794 (GRCm39) |
D432V |
probably damaging |
Het |
Mcm7 |
T |
C |
5: 138,165,507 (GRCm39) |
T466A |
probably damaging |
Het |
Megf8 |
A |
G |
7: 25,048,439 (GRCm39) |
E1704G |
possibly damaging |
Het |
Mettl25 |
C |
T |
10: 105,659,068 (GRCm39) |
C405Y |
probably damaging |
Het |
Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
Ndc1 |
T |
A |
4: 107,253,001 (GRCm39) |
I590N |
probably damaging |
Het |
Npnt |
G |
T |
3: 132,615,724 (GRCm39) |
N137K |
probably damaging |
Het |
Numa1 |
C |
T |
7: 101,645,300 (GRCm39) |
R309* |
probably null |
Het |
Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
Or11i1 |
A |
G |
3: 106,729,311 (GRCm39) |
I188T |
possibly damaging |
Het |
Or5v1 |
C |
A |
17: 37,809,540 (GRCm39) |
|
probably benign |
Het |
Pcdhb9 |
G |
T |
18: 37,534,794 (GRCm39) |
V263F |
probably damaging |
Het |
Pld4 |
T |
C |
12: 112,734,355 (GRCm39) |
|
probably null |
Het |
Ppp2r3c |
A |
G |
12: 55,339,353 (GRCm39) |
L170P |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,210,235 (GRCm39) |
D558E |
possibly damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,467,416 (GRCm39) |
Y418C |
probably damaging |
Het |
Rhag |
T |
C |
17: 41,139,341 (GRCm39) |
F92S |
possibly damaging |
Het |
Scel |
T |
C |
14: 103,840,678 (GRCm39) |
|
probably benign |
Het |
Serinc5 |
A |
G |
13: 92,819,441 (GRCm39) |
N125S |
probably damaging |
Het |
Sgpl1 |
A |
T |
10: 60,936,672 (GRCm39) |
M561K |
probably benign |
Het |
Sostdc1 |
T |
C |
12: 36,367,121 (GRCm39) |
V99A |
probably damaging |
Het |
Them6 |
A |
G |
15: 74,593,538 (GRCm39) |
Y132C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
A |
T |
6: 124,169,207 (GRCm39) |
F641Y |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,876,580 (GRCm39) |
Y3384C |
probably damaging |
Het |
Zbtb32 |
G |
T |
7: 30,289,353 (GRCm39) |
|
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 |
157,005,269 (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 |
|
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 |
|
Posted On |
2014-05-07 |