Incidental Mutation 'R0787:Rasal2'
| ID |
76884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
038967-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0787 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
157135182-157412595 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 157158696 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 766
(S766P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078308
AA Change: S791P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: S791P
| 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 damaging
Transcript: ENSMUST00000132699
AA Change: S766P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: S766P
| 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 |
|
| Meta Mutation Damage Score |
0.1142 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| 1700001F09Rik |
A |
T |
14: 43,345,493 (GRCm38) |
|
probably null |
Het |
| Abca8a |
T |
A |
11: 110,042,988 (GRCm38) |
Y1197F |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,798,516 (GRCm38) |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,738,829 (GRCm38) |
C979S |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 127,085,150 (GRCm38) |
D523E |
unknown |
Het |
| Ankfy1 |
T |
A |
11: 72,760,296 (GRCm38) |
I1024N |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,994,678 (GRCm38) |
S379G |
probably null |
Het |
| Arhgap40 |
T |
C |
2: 158,547,790 (GRCm38) |
S625P |
probably benign |
Het |
| Armc12 |
G |
C |
17: 28,538,766 (GRCm38) |
A291P |
probably damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,505 (GRCm38) |
N524D |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,638,485 (GRCm38) |
T2305K |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,047,635 (GRCm38) |
N277S |
probably benign |
Het |
| Czib |
T |
A |
4: 107,890,129 (GRCm38) |
L6Q |
probably damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,920,298 (GRCm38) |
V129E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,722,668 (GRCm38) |
D79G |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,494,090 (GRCm38) |
E58G |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,420,909 (GRCm38) |
V222E |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,040,555 (GRCm38) |
Y3913N |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,423,901 (GRCm38) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,106,446 (GRCm38) |
D759V |
probably damaging |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,569,499 (GRCm38) |
|
probably benign |
Het |
| Isg15 |
C |
T |
4: 156,199,939 (GRCm38) |
R44H |
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,279,153 (GRCm38) |
T232I |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,796,104 (GRCm38) |
H1399Q |
probably benign |
Het |
| Lig1 |
A |
C |
7: 13,299,069 (GRCm38) |
K499Q |
probably benign |
Het |
| Lrrn3 |
C |
A |
12: 41,454,231 (GRCm38) |
C29F |
probably damaging |
Het |
| Mtmr10 |
T |
C |
7: 64,300,615 (GRCm38) |
I136T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,426,096 (GRCm38) |
Y854H |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 129,133,526 (GRCm38) |
N81D |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,886,757 (GRCm38) |
A659V |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,615,630 (GRCm38) |
|
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,334,549 (GRCm38) |
V83A |
probably damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,690,523 (GRCm38) |
M326K |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,717,638 (GRCm38) |
L287Q |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,076,177 (GRCm38) |
D235G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,529,264 (GRCm38) |
P1665Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,364,956 (GRCm38) |
T326A |
probably damaging |
Het |
| Prr22 |
A |
T |
17: 56,771,072 (GRCm38) |
Y75F |
possibly damaging |
Het |
| Ptov1 |
A |
C |
7: 44,865,470 (GRCm38) |
|
probably null |
Het |
| Shmt1 |
T |
C |
11: 60,792,976 (GRCm38) |
T337A |
probably benign |
Het |
| St5 |
G |
T |
7: 109,525,620 (GRCm38) |
R1068S |
possibly damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,449,209 (GRCm38) |
I1168N |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,946,343 (GRCm38) |
V1126A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 50,829,230 (GRCm38) |
S2304T |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,789,561 (GRCm38) |
R1446M |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,370,484 (GRCm38) |
I425V |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,951,421 (GRCm38) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,381,763 (GRCm38) |
|
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,156,847 (GRCm38) |
S573P |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,957,388 (GRCm38) |
V191E |
probably damaging |
Het |
| Zdhhc3 |
A |
T |
9: 123,083,623 (GRCm38) |
C153* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,209,022 (GRCm38) |
V2154D |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,209,346 (GRCm38) |
V2046A |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,140,548 (GRCm38) |
I227N |
unknown |
Het |
|
| Other mutations in Rasal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Rasal2
|
APN |
1 |
157,147,817 (GRCm38) |
missense |
probably benign |
|
|
IGL00484:Rasal2
|
APN |
1 |
157,174,175 (GRCm38) |
splice site |
probably null |
|
|
IGL00731:Rasal2
|
APN |
1 |
157,157,764 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00900:Rasal2
|
APN |
1 |
157,411,929 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL01346:Rasal2
|
APN |
1 |
157,161,216 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01635:Rasal2
|
APN |
1 |
157,163,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01759:Rasal2
|
APN |
1 |
157,175,932 (GRCm38) |
missense |
probably benign |
0.42 |
|
IGL01939:Rasal2
|
APN |
1 |
157,175,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01954:Rasal2
|
APN |
1 |
157,176,116 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01954:Rasal2
|
APN |
1 |
157,177,699 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL02005:Rasal2
|
APN |
1 |
157,156,998 (GRCm38) |
nonsense |
probably null |
|
|
IGL02056:Rasal2
|
APN |
1 |
157,299,261 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02444:Rasal2
|
APN |
1 |
157,299,195 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02496:Rasal2
|
APN |
1 |
157,149,879 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL02832:Rasal2
|
APN |
1 |
157,157,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03351:Rasal2
|
APN |
1 |
157,192,741 (GRCm38) |
splice site |
probably benign |
|
|
R0456:Rasal2
|
UTSW |
1 |
157,149,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0537:Rasal2
|
UTSW |
1 |
157,147,792 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0681:Rasal2
|
UTSW |
1 |
157,157,180 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0682:Rasal2
|
UTSW |
1 |
157,179,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0683:Rasal2
|
UTSW |
1 |
157,179,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0789:Rasal2
|
UTSW |
1 |
157,157,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1109:Rasal2
|
UTSW |
1 |
157,177,638 (GRCm38) |
unclassified |
probably benign |
|
|
R1175:Rasal2
|
UTSW |
1 |
157,147,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1332:Rasal2
|
UTSW |
1 |
157,175,821 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1396:Rasal2
|
UTSW |
1 |
157,164,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1535:Rasal2
|
UTSW |
1 |
157,230,059 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1542:Rasal2
|
UTSW |
1 |
157,175,851 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1703:Rasal2
|
UTSW |
1 |
157,157,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1735:Rasal2
|
UTSW |
1 |
157,174,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1762:Rasal2
|
UTSW |
1 |
157,299,144 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R2570:Rasal2
|
UTSW |
1 |
157,161,300 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3148:Rasal2
|
UTSW |
1 |
157,243,764 (GRCm38) |
intron |
probably benign |
|
|
R3157:Rasal2
|
UTSW |
1 |
157,158,655 (GRCm38) |
splice site |
probably benign |
|
|
R4277:Rasal2
|
UTSW |
1 |
157,157,126 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4459:Rasal2
|
UTSW |
1 |
157,175,832 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4460:Rasal2
|
UTSW |
1 |
157,175,832 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4563:Rasal2
|
UTSW |
1 |
157,175,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4672:Rasal2
|
UTSW |
1 |
157,243,661 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4894:Rasal2
|
UTSW |
1 |
157,192,804 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5147:Rasal2
|
UTSW |
1 |
157,175,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5387:Rasal2
|
UTSW |
1 |
157,157,765 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5421:Rasal2
|
UTSW |
1 |
157,299,141 (GRCm38) |
missense |
probably benign |
0.37 |
|
R5459:Rasal2
|
UTSW |
1 |
157,157,661 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5651:Rasal2
|
UTSW |
1 |
157,157,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5767:Rasal2
|
UTSW |
1 |
157,176,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5778:Rasal2
|
UTSW |
1 |
157,161,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6298:Rasal2
|
UTSW |
1 |
157,411,862 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6332:Rasal2
|
UTSW |
1 |
157,299,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6571:Rasal2
|
UTSW |
1 |
157,161,179 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7258:Rasal2
|
UTSW |
1 |
157,157,700 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7545:Rasal2
|
UTSW |
1 |
157,192,769 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7558:Rasal2
|
UTSW |
1 |
157,175,836 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7894:Rasal2
|
UTSW |
1 |
157,243,648 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8140:Rasal2
|
UTSW |
1 |
157,299,235 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8141:Rasal2
|
UTSW |
1 |
157,164,670 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8151:Rasal2
|
UTSW |
1 |
157,243,584 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8218:Rasal2
|
UTSW |
1 |
157,157,381 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8517:Rasal2
|
UTSW |
1 |
157,146,279 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9021:Rasal2
|
UTSW |
1 |
157,230,944 (GRCm38) |
missense |
unknown |
|
|
RF024:Rasal2
|
UTSW |
1 |
157,147,790 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Rasal2
|
UTSW |
1 |
157,175,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGCATTGTGACAAACAACTGGG -3'
(R):5'- ACATCCTTCCGTCAATGGGCATC -3'
Sequencing Primer
(F):5'- GACAAACAACTGGGTTTATCTTGTG -3'
(R):5'- CACAATGCTTGTTGTCCAATTAGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation