Incidental Mutation 'R5387:Rasal2'
| ID |
482200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
042959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5387 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
157135182-157412595 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 157157765 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 804
(D804G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078308
AA Change: D804G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: D804G
| 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: D779G
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: D779G
| 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 |
0.0819 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (80/81) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009B22Rik |
A |
T |
11: 51,685,974 (GRCm38) |
D32E |
probably benign |
Het |
| 2210408I21Rik |
T |
A |
13: 77,259,973 (GRCm38) |
S140T |
probably benign |
Het |
| Ahnak |
T |
C |
19: 9,003,691 (GRCm38) |
S780P |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,634,644 (GRCm38) |
H1205N |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,648,619 (GRCm38) |
K139R |
probably benign |
Het |
| Anp32b |
T |
G |
4: 46,468,573 (GRCm38) |
C114W |
probably damaging |
Het |
| Ascl1 |
C |
T |
10: 87,492,689 (GRCm38) |
A134T |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 79,852,800 (GRCm38) |
E453K |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,055,024 (GRCm38) |
A84V |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,837,785 (GRCm38) |
M332K |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 30,100,751 (GRCm38) |
V1107A |
probably damaging |
Het |
| Cd33 |
G |
A |
7: 43,532,053 (GRCm38) |
Q114* |
probably null |
Het |
| Col4a4 |
C |
T |
1: 82,493,591 (GRCm38) |
G681E |
unknown |
Het |
| Defb22 |
C |
A |
2: 152,485,906 (GRCm38) |
A120S |
unknown |
Het |
| Dnah7b |
A |
G |
1: 46,188,659 (GRCm38) |
I1347M |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,134,842 (GRCm38) |
I549T |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,644,577 (GRCm38) |
|
probably null |
Het |
| Fbxo7 |
A |
G |
10: 86,024,654 (GRCm38) |
T42A |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,818,274 (GRCm38) |
I1021T |
probably benign |
Het |
| Gad1 |
C |
A |
2: 70,563,851 (GRCm38) |
S7* |
probably null |
Het |
| Gm281 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
| H2-Q7 |
C |
T |
17: 35,439,542 (GRCm38) |
T52M |
probably damaging |
Het |
| H2-T3 |
C |
T |
17: 36,186,702 (GRCm38) |
G28R |
probably benign |
Het |
| Hist1h2ad |
T |
A |
13: 23,574,667 (GRCm38) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 80,098,331 (GRCm38) |
|
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,555,535 (GRCm38) |
Y604H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 39,022,423 (GRCm38) |
Y154C |
probably damaging |
Het |
| Kif26b |
G |
T |
1: 178,914,876 (GRCm38) |
A846S |
probably benign |
Het |
| Lnx2 |
G |
A |
5: 147,028,154 (GRCm38) |
P420S |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 37,072,259 (GRCm38) |
T427A |
probably damaging |
Het |
| Lrrc43 |
G |
T |
5: 123,499,671 (GRCm38) |
|
probably null |
Het |
| Mug1 |
T |
C |
6: 121,884,394 (GRCm38) |
Y1325H |
probably damaging |
Het |
| Naglu |
A |
T |
11: 101,076,724 (GRCm38) |
Y500F |
probably damaging |
Het |
| Npy4r |
A |
G |
14: 34,146,983 (GRCm38) |
M116T |
probably benign |
Het |
| Nrd1 |
A |
G |
4: 109,039,762 (GRCm38) |
Y526C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,762,813 (GRCm38) |
S472P |
probably benign |
Het |
| Olfr102 |
T |
A |
17: 37,314,292 (GRCm38) |
T31S |
probably benign |
Het |
| Olfr361 |
T |
C |
2: 37,085,719 (GRCm38) |
T10A |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,780,933 (GRCm38) |
T1828S |
probably benign |
Het |
| Pank2 |
C |
T |
2: 131,274,262 (GRCm38) |
T200I |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 31,082,610 (GRCm38) |
Y946C |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,666,453 (GRCm38) |
S437T |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,265,268 (GRCm38) |
K1710E |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 103,078,455 (GRCm38) |
S229P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,454,941 (GRCm38) |
I1084V |
possibly damaging |
Het |
| Prkaa2 |
C |
A |
4: 105,040,177 (GRCm38) |
D280Y |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,485,434 (GRCm38) |
S620P |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,493,455 (GRCm38) |
T117A |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,956,413 (GRCm38) |
T773A |
possibly damaging |
Het |
| Rrnad1 |
A |
T |
3: 87,930,011 (GRCm38) |
|
probably benign |
Het |
| Rspry1 |
A |
G |
8: 94,638,286 (GRCm38) |
T185A |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,882,545 (GRCm38) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,147,594 (GRCm38) |
R1364C |
probably benign |
Het |
| Shtn1 |
G |
T |
19: 59,038,369 (GRCm38) |
L97M |
probably damaging |
Het |
| Slc35f1 |
T |
C |
10: 53,108,164 (GRCm38) |
L340P |
probably damaging |
Het |
| Slc45a1 |
T |
A |
4: 150,643,909 (GRCm38) |
|
probably benign |
Het |
| Slmap |
T |
C |
14: 26,459,933 (GRCm38) |
E386G |
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,475,096 (GRCm38) |
A924V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,589,118 (GRCm38) |
E219D |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,375,063 (GRCm38) |
L766F |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,407,489 (GRCm38) |
|
probably null |
Het |
| Top3a |
A |
G |
11: 60,762,490 (GRCm38) |
F53L |
probably damaging |
Het |
| Trem1 |
T |
C |
17: 48,241,513 (GRCm38) |
I26T |
possibly damaging |
Het |
| Ttc7b |
G |
T |
12: 100,446,963 (GRCm38) |
Q199K |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 90,006,596 (GRCm38) |
Y975C |
probably benign |
Het |
| Ubxn11 |
C |
A |
4: 134,123,426 (GRCm38) |
D196E |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,530,021 (GRCm38) |
H945R |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 123,131,286 (GRCm38) |
I405T |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,189,339 (GRCm38) |
E138K |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,677,295 (GRCm38) |
E107G |
probably benign |
Het |
| Wbp1l |
T |
C |
19: 46,644,457 (GRCm38) |
|
probably null |
Het |
| Zfp184 |
T |
G |
13: 21,949,640 (GRCm38) |
|
probably benign |
Het |
| Zfp36 |
A |
C |
7: 28,377,868 (GRCm38) |
L205R |
possibly damaging |
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 |
|
R0787:Rasal2
|
UTSW |
1 |
157,158,696 (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 |
|
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'- CATGACAGATGCATGCTCCG -3'
(R):5'- CTACCTTTGAGAGAAAACTAGCAATGC -3'
Sequencing Primer
(F):5'- CTGAGCAGCATGAGTGTCCTG -3'
(R):5'- TTCCGCATTGAACCTGTG -3'
|
| Posted On |
2017-07-11 |
Incidental Mutation