Incidental Mutation 'R7515:Rasa2'
| ID |
585934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
045588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R7515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 96434353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034984]
[ENSMUST00000128346]
|
| AlphaFold |
P58069 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034984
|
| SMART Domains |
Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
C2
|
38 |
136 |
3.78e-16 |
SMART |
|
C2
|
171 |
287 |
8.48e-19 |
SMART |
|
RasGAP
|
300 |
641 |
7.05e-140 |
SMART |
|
PH
|
604 |
706 |
1.98e-17 |
SMART |
|
BTK
|
706 |
742 |
1.39e-18 |
SMART |
|
low complexity region
|
824 |
838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128346
|
| SMART Domains |
Protein: ENSMUSP00000115629
Gene: ENSMUSG00000032413
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
79 |
6.86e-5 |
SMART |
|
C2
|
114 |
230 |
8.48e-19 |
SMART |
|
RasGAP
|
243 |
584 |
7.05e-140 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
T |
11: 5,578,905 (GRCm39) |
E56D |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,805,514 (GRCm39) |
Y182C |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,986,179 (GRCm39) |
N273Y |
probably damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,015 (GRCm39) |
E217G |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 102,993,882 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,279,240 (GRCm39) |
H374R |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,273,108 (GRCm39) |
D23G |
probably damaging |
Het |
| Ccr2 |
T |
C |
9: 123,906,197 (GRCm39) |
V159A |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,884,645 (GRCm39) |
D614E |
unknown |
Het |
| Crb2 |
G |
A |
2: 37,673,412 (GRCm39) |
G103R |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,898,596 (GRCm39) |
Y317C |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,379,508 (GRCm39) |
V860A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,672,815 (GRCm39) |
D553G |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,496,450 (GRCm39) |
S112P |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,732,240 (GRCm39) |
F4222S |
probably benign |
Het |
| Ei24 |
T |
C |
9: 36,701,211 (GRCm39) |
D36G |
probably damaging |
Het |
| Etv3 |
G |
T |
3: 87,435,363 (GRCm39) |
R78L |
possibly damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,767,798 (GRCm39) |
L437P |
possibly damaging |
Het |
| Foxn1 |
T |
C |
11: 78,261,970 (GRCm39) |
D133G |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,045,660 (GRCm39) |
D150V |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,373,092 (GRCm39) |
L9P |
probably damaging |
Het |
| H2-M10.3 |
G |
A |
17: 36,677,435 (GRCm39) |
T281I |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,537,830 (GRCm39) |
S532P |
not run |
Het |
| Itpr2 |
T |
C |
6: 146,228,608 (GRCm39) |
D1329G |
probably damaging |
Het |
| Jakmip2 |
A |
T |
18: 43,704,191 (GRCm39) |
N384K |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,662,290 (GRCm39) |
V255A |
possibly damaging |
Het |
| Kifc1 |
A |
G |
17: 34,103,777 (GRCm39) |
L182P |
probably damaging |
Het |
| Lgals8 |
G |
A |
13: 12,463,343 (GRCm39) |
R198* |
probably null |
Het |
| Lrrk1 |
A |
T |
7: 65,912,310 (GRCm39) |
M1750K |
probably benign |
Het |
| Lrsam1 |
A |
G |
2: 32,830,251 (GRCm39) |
|
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
| Mcc |
G |
T |
18: 44,626,499 (GRCm39) |
H366N |
probably benign |
Het |
| Mif4gd |
A |
G |
11: 115,499,222 (GRCm39) |
V220A |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,270,037 (GRCm39) |
F708L |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,550,958 (GRCm39) |
W5112R |
probably benign |
Het |
| Ndrg2 |
A |
G |
14: 52,146,380 (GRCm39) |
I140T |
probably benign |
Het |
| Nid2 |
C |
A |
14: 19,841,635 (GRCm39) |
Q887K |
probably benign |
Het |
| Nop16 |
A |
T |
13: 54,737,550 (GRCm39) |
S48T |
possibly damaging |
Het |
| Nrap |
G |
A |
19: 56,354,859 (GRCm39) |
T489I |
possibly damaging |
Het |
| Oas1e |
C |
T |
5: 120,929,951 (GRCm39) |
G189D |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,250 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Or7g34 |
A |
T |
9: 19,477,949 (GRCm39) |
C244S |
probably damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,095,171 (GRCm39) |
D560V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
C |
T |
16: 45,594,603 (GRCm39) |
D901N |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,212,035 (GRCm39) |
H2058R |
|
Het |
| Ptgis |
T |
A |
2: 167,048,758 (GRCm39) |
K419N |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,022,266 (GRCm39) |
F1714L |
probably damaging |
Het |
| Recql |
C |
T |
6: 142,320,611 (GRCm39) |
D146N |
probably damaging |
Het |
| Rnf6 |
T |
G |
5: 146,148,602 (GRCm39) |
S139R |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,067,631 (GRCm39) |
S1301P |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
A |
6: 113,087,850 (GRCm39) |
I137N |
probably damaging |
Het |
| Sf3b6 |
G |
A |
12: 4,870,619 (GRCm39) |
R19Q |
probably damaging |
Het |
| Slc15a5 |
T |
A |
6: 138,020,496 (GRCm39) |
H279L |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,681,711 (GRCm39) |
T175A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,470,820 (GRCm39) |
N36I |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,268,090 (GRCm39) |
F585C |
probably damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,632,507 (GRCm39) |
V1070L |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,846 (GRCm39) |
M658L |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,546,349 (GRCm39) |
D150G |
unknown |
Het |
| Zfp607b |
T |
C |
7: 27,402,921 (GRCm39) |
V459A |
probably benign |
Het |
| Zfp653 |
T |
C |
9: 21,982,427 (GRCm39) |
R71G |
probably damaging |
Het |
|
| Other mutations in Rasa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Rasa2
|
APN |
9 |
96,426,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00661:Rasa2
|
APN |
9 |
96,459,606 (GRCm39) |
splice site |
probably benign |
|
|
IGL00825:Rasa2
|
APN |
9 |
96,452,772 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01645:Rasa2
|
APN |
9 |
96,464,834 (GRCm39) |
nonsense |
probably null |
|
|
IGL02260:Rasa2
|
APN |
9 |
96,426,372 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02568:Rasa2
|
APN |
9 |
96,462,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02963:Rasa2
|
APN |
9 |
96,452,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Rasa2
|
UTSW |
9 |
96,454,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Rasa2
|
UTSW |
9 |
96,454,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Rasa2
|
UTSW |
9 |
96,474,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0238:Rasa2
|
UTSW |
9 |
96,450,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Rasa2
|
UTSW |
9 |
96,450,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Rasa2
|
UTSW |
9 |
96,427,863 (GRCm39) |
splice site |
probably null |
|
|
R0332:Rasa2
|
UTSW |
9 |
96,488,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Rasa2
|
UTSW |
9 |
96,454,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0931:Rasa2
|
UTSW |
9 |
96,434,457 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1067:Rasa2
|
UTSW |
9 |
96,434,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Rasa2
|
UTSW |
9 |
96,426,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1562:Rasa2
|
UTSW |
9 |
96,427,803 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1698:Rasa2
|
UTSW |
9 |
96,450,428 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1980:Rasa2
|
UTSW |
9 |
96,452,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3055:Rasa2
|
UTSW |
9 |
96,493,526 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4175:Rasa2
|
UTSW |
9 |
96,442,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4258:Rasa2
|
UTSW |
9 |
96,439,433 (GRCm39) |
intron |
probably benign |
|
|
R4432:Rasa2
|
UTSW |
9 |
96,424,460 (GRCm39) |
unclassified |
probably benign |
|
|
R4636:Rasa2
|
UTSW |
9 |
96,426,390 (GRCm39) |
missense |
probably benign |
|
|
R4773:Rasa2
|
UTSW |
9 |
96,426,470 (GRCm39) |
missense |
probably benign |
|
|
R4990:Rasa2
|
UTSW |
9 |
96,474,042 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5177:Rasa2
|
UTSW |
9 |
96,426,844 (GRCm39) |
nonsense |
probably null |
|
|
R5462:Rasa2
|
UTSW |
9 |
96,453,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Rasa2
|
UTSW |
9 |
96,452,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5775:Rasa2
|
UTSW |
9 |
96,459,521 (GRCm39) |
splice site |
probably null |
|
|
R5866:Rasa2
|
UTSW |
9 |
96,427,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5938:Rasa2
|
UTSW |
9 |
96,493,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6076:Rasa2
|
UTSW |
9 |
96,427,699 (GRCm39) |
missense |
probably benign |
|
|
R6216:Rasa2
|
UTSW |
9 |
96,426,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Rasa2
|
UTSW |
9 |
96,493,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Rasa2
|
UTSW |
9 |
96,442,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Rasa2
|
UTSW |
9 |
96,426,408 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7405:Rasa2
|
UTSW |
9 |
96,448,080 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7421:Rasa2
|
UTSW |
9 |
96,493,500 (GRCm39) |
missense |
unknown |
|
|
R7490:Rasa2
|
UTSW |
9 |
96,448,175 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7547:Rasa2
|
UTSW |
9 |
96,493,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Rasa2
|
UTSW |
9 |
96,439,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7821:Rasa2
|
UTSW |
9 |
96,462,537 (GRCm39) |
splice site |
probably null |
|
|
R7894:Rasa2
|
UTSW |
9 |
96,484,780 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8089:Rasa2
|
UTSW |
9 |
96,435,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8193:Rasa2
|
UTSW |
9 |
96,484,791 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8827:Rasa2
|
UTSW |
9 |
96,434,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Rasa2
|
UTSW |
9 |
96,458,402 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9043:Rasa2
|
UTSW |
9 |
96,484,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Rasa2
|
UTSW |
9 |
96,427,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF017:Rasa2
|
UTSW |
9 |
96,513,521 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Rasa2
|
UTSW |
9 |
96,513,520 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Rasa2
|
UTSW |
9 |
96,513,520 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACTGAGCACCATGAGTTAACAG -3'
(R):5'- TCAGCTTGGTTTCAGGGCAG -3'
Sequencing Primer
(F):5'- AGTTAACCTGTTAAGTCTGTGCC -3'
(R):5'- GGCAGTGGTTTGCACCTC -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation