Incidental Mutation 'R6332:Rasal2'
| ID |
513151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal2
|
| Ensembl Gene |
ENSMUSG00000070565 |
| Gene Name |
RAS protein activator like 2 |
| Synonyms |
A330066M24Rik |
| MMRRC Submission |
044486-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156962759-157240170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 157126757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 94
(Y94H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078308]
[ENSMUST00000132699]
|
| AlphaFold |
E9PW37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078308
AA Change: Y94H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: Y94H
| 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 |
possibly damaging
Transcript: ENSMUST00000132699
AA Change: Y76H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: Y76H
| 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
|
| Meta Mutation Damage Score |
0.1959 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
C |
A |
7: 42,095,667 (GRCm39) |
G194C |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,135,248 (GRCm39) |
K258E |
probably damaging |
Het |
| Afdn |
A |
T |
17: 14,030,707 (GRCm39) |
D206V |
possibly damaging |
Het |
| Agt |
G |
T |
8: 125,284,572 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,801,432 (GRCm39) |
D298E |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,271,709 (GRCm39) |
S897G |
probably benign |
Het |
| Apol9b |
A |
G |
15: 77,619,746 (GRCm39) |
|
probably null |
Het |
| Baz1a |
T |
C |
12: 54,965,339 (GRCm39) |
E705G |
probably benign |
Het |
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,246,210 (GRCm39) |
F749L |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,018,036 (GRCm39) |
I482K |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,749,955 (GRCm39) |
F293S |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,439,129 (GRCm39) |
M527R |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,343,273 (GRCm39) |
R1539H |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,685,319 (GRCm39) |
Y603C |
probably damaging |
Het |
| Eea1 |
G |
A |
10: 95,877,335 (GRCm39) |
A1350T |
possibly damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,394,402 (GRCm39) |
K507N |
possibly damaging |
Het |
| Flt3l |
A |
T |
7: 44,783,091 (GRCm39) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,667,230 (GRCm39) |
Q834R |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hycc2 |
T |
A |
1: 58,569,034 (GRCm39) |
Y515F |
probably damaging |
Het |
| Ifih1 |
T |
C |
2: 62,469,827 (GRCm39) |
N157D |
possibly damaging |
Het |
| Itga2 |
A |
C |
13: 114,980,009 (GRCm39) |
M1064R |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,002,228 (GRCm39) |
|
probably null |
Het |
| Krtap10-4 |
T |
C |
10: 77,662,883 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,518,431 (GRCm39) |
C269R |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,355 (GRCm39) |
D125G |
probably damaging |
Het |
| Matn2 |
A |
C |
15: 34,423,901 (GRCm39) |
E586D |
probably benign |
Het |
| Mef2b |
T |
A |
8: 70,616,789 (GRCm39) |
|
probably null |
Het |
| Mrps22 |
A |
G |
9: 98,483,524 (GRCm39) |
|
probably null |
Het |
| Mtmr2 |
T |
C |
9: 13,711,325 (GRCm39) |
F445L |
probably damaging |
Het |
| Nxph4 |
A |
G |
10: 127,362,237 (GRCm39) |
V218A |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,408,001 (GRCm39) |
V8A |
probably benign |
Het |
| Or4f57 |
C |
T |
2: 111,791,091 (GRCm39) |
G109D |
probably damaging |
Het |
| Or51k1 |
A |
G |
7: 103,660,980 (GRCm39) |
S310P |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,325,896 (GRCm39) |
V100D |
probably damaging |
Het |
| Phldb2 |
A |
C |
16: 45,594,609 (GRCm39) |
S899A |
probably benign |
Het |
| Pnpla3 |
G |
A |
15: 84,056,983 (GRCm39) |
|
probably null |
Het |
| Rlf |
A |
T |
4: 121,006,019 (GRCm39) |
I987N |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,687,753 (GRCm39) |
Y300H |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,826,584 (GRCm39) |
S1343L |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,648,105 (GRCm39) |
K938E |
possibly damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,129 (GRCm39) |
V259A |
probably benign |
Het |
| Slc3a1 |
A |
C |
17: 85,335,860 (GRCm39) |
M1L |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,991,409 (GRCm39) |
V427I |
probably benign |
Het |
| Ssbp2 |
A |
T |
13: 91,839,027 (GRCm39) |
M300L |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,940,521 (GRCm39) |
D878G |
probably damaging |
Het |
| Stk19 |
A |
G |
17: 35,043,574 (GRCm39) |
L212P |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,240,387 (GRCm39) |
M115V |
possibly damaging |
Het |
| Syt17 |
A |
C |
7: 118,033,466 (GRCm39) |
S181A |
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,875,849 (GRCm39) |
N5Y |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,680,421 (GRCm39) |
|
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,258,310 (GRCm39) |
M1K |
probably null |
Het |
| Tmem82 |
T |
A |
4: 141,343,721 (GRCm39) |
Q183L |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,203 (GRCm39) |
E142G |
probably damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,167 (GRCm39) |
H253Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,687,808 (GRCm39) |
|
probably benign |
Het |
| Ubd |
A |
G |
17: 37,506,392 (GRCm39) |
K93E |
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,415 (GRCm39) |
F222Y |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,151,328 (GRCm39) |
N95K |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,434,904 (GRCm39) |
V1775A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,346,981 (GRCm39) |
K1787E |
possibly damaging |
Het |
| Zfp26 |
A |
T |
9: 20,348,582 (GRCm39) |
F661I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,504 (GRCm39) |
K483* |
probably null |
Het |
| Zfp946 |
A |
G |
17: 22,673,519 (GRCm39) |
E91G |
probably damaging |
Het |
| Zic5 |
C |
A |
14: 122,697,161 (GRCm39) |
D485Y |
unknown |
Het |
| Zmynd8 |
A |
T |
2: 165,680,772 (GRCm39) |
D236E |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTACACTACAGTTTATGGTTGC -3'
(R):5'- AAACAGCCTCCCATTGTCTC -3'
Sequencing Primer
(F):5'- CACTACAGTTTATGGTTGCTAGAGTC -3'
(R):5'- AGCCTCCCATTGTCTCAATGTAAAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation