Incidental Mutation 'IGL01939:Rasal2'
| ID |
180789 |
| 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 # |
IGL01939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 157003480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 393
(E393G)
|
| 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: E411G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: E411G
| 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 damaging
Transcript: ENSMUST00000132699
AA Change: E393G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: E393G
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,885,925 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,701,183 (GRCm39) |
V242A |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,551,769 (GRCm39) |
N1127S |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,976,380 (GRCm39) |
H267L |
probably benign |
Het |
| Ces1b |
C |
T |
8: 93,806,059 (GRCm39) |
G61R |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,286 (GRCm39) |
D355V |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,021,005 (GRCm39) |
S459P |
probably damaging |
Het |
| Crygd |
T |
C |
1: 65,101,185 (GRCm39) |
T137A |
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,677,202 (GRCm39) |
M174K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,964,790 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,174,806 (GRCm39) |
D1969A |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,353,606 (GRCm39) |
E317V |
probably damaging |
Het |
| Foxf2 |
G |
T |
13: 31,810,697 (GRCm39) |
S212I |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,685 (GRCm39) |
|
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,105 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,893,946 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
T |
C |
18: 35,071,761 (GRCm39) |
E613G |
possibly damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,501,168 (GRCm39) |
I515V |
possibly damaging |
Het |
| Ins1 |
G |
T |
19: 52,253,173 (GRCm39) |
A38S |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,562,488 (GRCm39) |
N418D |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,961,778 (GRCm39) |
K417E |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,563,226 (GRCm39) |
Y823H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,168,100 (GRCm39) |
D421E |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,492,900 (GRCm39) |
S150P |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,703,871 (GRCm39) |
|
probably benign |
Het |
| Nkx1-2 |
A |
T |
7: 132,201,203 (GRCm39) |
I18N |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,509,077 (GRCm39) |
T286A |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,807 (GRCm39) |
I272F |
probably benign |
Het |
| Or8g33 |
A |
C |
9: 39,337,634 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,285 (GRCm39) |
D70G |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,232,232 (GRCm39) |
R237G |
probably damaging |
Het |
| Pp2d1 |
G |
A |
17: 53,822,167 (GRCm39) |
L300F |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,420 (GRCm39) |
Y516N |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,370,158 (GRCm39) |
|
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,617,650 (GRCm39) |
V16A |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,604,864 (GRCm39) |
C82S |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,856,889 (GRCm39) |
E449V |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,859,334 (GRCm39) |
H1143Q |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,208,549 (GRCm39) |
I530T |
probably benign |
Het |
| Sel1l |
T |
A |
12: 91,783,021 (GRCm39) |
Q482L |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,648 (GRCm39) |
M280T |
probably damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,871,895 (GRCm39) |
H348L |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,367,120 (GRCm39) |
L542P |
possibly damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,488 (GRCm39) |
Q609L |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,665,781 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,365,262 (GRCm39) |
|
probably null |
Het |
| Tpo |
T |
C |
12: 30,134,646 (GRCm39) |
T771A |
possibly damaging |
Het |
| Tpr |
G |
A |
1: 150,289,496 (GRCm39) |
R609H |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,295,141 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
G |
T |
13: 22,403,893 (GRCm39) |
S33* |
probably null |
Het |
| Vmn2r104 |
A |
C |
17: 20,250,187 (GRCm39) |
S695A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,404 (GRCm39) |
D427G |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,846 (GRCm39) |
S160P |
probably benign |
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 |
|
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 |
|
|
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 |
Incidental Mutation