Incidental Mutation 'IGL02444:Rasal2'
ID |
293521 |
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 # |
IGL02444
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 157126765 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 73
(E73G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
AlphaFold |
E9PW37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078308
AA Change: E91G
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000077423 Gene: ENSMUSG00000070565 AA Change: E91G
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: ENSMUST00000132699
AA Change: E73G
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114964 Gene: ENSMUSG00000070565 AA Change: E73G
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 |
noncoding transcript
Transcript: ENSMUST00000143080
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
G |
8: 44,022,710 (GRCm39) |
I260T |
possibly damaging |
Het |
Arhgap9 |
T |
A |
10: 127,163,816 (GRCm39) |
V484D |
probably damaging |
Het |
Asph |
A |
G |
4: 9,542,319 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,555,083 (GRCm39) |
S457P |
probably damaging |
Het |
Bckdk |
A |
G |
7: 127,506,618 (GRCm39) |
T38A |
probably damaging |
Het |
Cast |
G |
A |
13: 74,887,972 (GRCm39) |
T240I |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,413,542 (GRCm39) |
|
probably benign |
Het |
Cdon |
T |
C |
9: 35,384,744 (GRCm39) |
S677P |
probably benign |
Het |
Cfap161 |
T |
C |
7: 83,425,353 (GRCm39) |
E246G |
probably damaging |
Het |
Dnah11 |
G |
A |
12: 117,939,608 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,838,444 (GRCm39) |
V835I |
possibly damaging |
Het |
Eif3a |
T |
C |
19: 60,762,045 (GRCm39) |
H510R |
possibly damaging |
Het |
Fbxw2 |
G |
T |
2: 34,695,793 (GRCm39) |
T367K |
probably benign |
Het |
Ghsr |
T |
C |
3: 27,426,189 (GRCm39) |
S82P |
probably benign |
Het |
Gm4353 |
C |
T |
7: 115,682,679 (GRCm39) |
V301I |
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,728,178 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
A |
3: 80,609,860 (GRCm39) |
M650L |
possibly damaging |
Het |
Herc4 |
T |
C |
10: 63,142,212 (GRCm39) |
V671A |
probably benign |
Het |
Iqcb1 |
T |
A |
16: 36,652,273 (GRCm39) |
Y61* |
probably null |
Het |
Irs2 |
C |
T |
8: 11,056,306 (GRCm39) |
G709S |
probably benign |
Het |
Itpripl1 |
T |
G |
2: 126,983,621 (GRCm39) |
H167P |
possibly damaging |
Het |
Kcnn3 |
T |
C |
3: 89,559,359 (GRCm39) |
V543A |
possibly damaging |
Het |
Klf10 |
T |
A |
15: 38,298,068 (GRCm39) |
K43M |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,547,450 (GRCm39) |
R345C |
probably damaging |
Het |
Lmntd2 |
A |
G |
7: 140,791,832 (GRCm39) |
S304P |
probably damaging |
Het |
Lpar3 |
T |
C |
3: 145,946,949 (GRCm39) |
I209T |
probably damaging |
Het |
Map3k13 |
T |
A |
16: 21,732,982 (GRCm39) |
M528K |
probably benign |
Het |
Me1 |
A |
T |
9: 86,464,967 (GRCm39) |
|
probably benign |
Het |
Nedd4l |
T |
G |
18: 65,337,028 (GRCm39) |
|
probably benign |
Het |
Oas1d |
T |
A |
5: 121,058,071 (GRCm39) |
F338L |
probably benign |
Het |
Or1b1 |
G |
T |
2: 36,994,786 (GRCm39) |
P292Q |
probably damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,551 (GRCm39) |
F238S |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,454,103 (GRCm39) |
V161A |
probably benign |
Het |
Prdx3 |
A |
T |
19: 60,859,899 (GRCm39) |
F91L |
possibly damaging |
Het |
Rab25 |
T |
C |
3: 88,450,020 (GRCm39) |
T114A |
probably benign |
Het |
Slco4c1 |
A |
G |
1: 96,772,234 (GRCm39) |
S252P |
probably damaging |
Het |
Srgap2 |
A |
C |
1: 131,252,891 (GRCm39) |
|
probably null |
Het |
Synpo |
A |
G |
18: 60,735,502 (GRCm39) |
S576P |
probably damaging |
Het |
Tktl2 |
G |
T |
8: 66,966,013 (GRCm39) |
A524S |
possibly damaging |
Het |
Tln2 |
A |
T |
9: 67,165,874 (GRCm39) |
|
probably benign |
Het |
Tmem52 |
G |
A |
4: 155,554,850 (GRCm39) |
D158N |
probably damaging |
Het |
Tyw3 |
T |
A |
3: 154,302,626 (GRCm39) |
Q36L |
probably damaging |
Het |
Usp10 |
A |
T |
8: 120,675,432 (GRCm39) |
I483F |
possibly damaging |
Het |
Usp31 |
A |
G |
7: 121,278,718 (GRCm39) |
Y216H |
probably damaging |
Het |
Vmn1r181 |
T |
C |
7: 23,683,948 (GRCm39) |
S138P |
probably damaging |
Het |
Vmn2r42 |
G |
T |
7: 8,187,312 (GRCm39) |
A770E |
probably damaging |
Het |
Zfp292 |
A |
C |
4: 34,808,810 (GRCm39) |
S1411R |
possibly 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 |
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 |
2015-04-16 |