Incidental Mutation 'R7821:Rasa2'
| ID |
628642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
045875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R7821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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 96462537 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,120,929 (GRCm39) |
T112S |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,298,950 (GRCm39) |
S2320R |
probably benign |
Het |
| Abca7 |
TGGTGCGTGAG |
TG |
10: 79,838,424 (GRCm39) |
|
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,932,136 (GRCm39) |
I250N |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,747 (GRCm39) |
V560A |
possibly damaging |
Het |
| Aoc1 |
T |
A |
6: 48,882,745 (GRCm39) |
I229N |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,106,951 (GRCm39) |
Y291* |
probably null |
Het |
| Cacnb4 |
T |
C |
2: 52,324,520 (GRCm39) |
D514G |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,486 (GRCm39) |
Q81R |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,925,740 (GRCm39) |
T50A |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,741,458 (GRCm39) |
E2487G |
probably damaging |
Het |
| D130040H23Rik |
A |
T |
8: 69,752,887 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,087,879 (GRCm39) |
S14N |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,414,352 (GRCm39) |
T821I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,428,633 (GRCm39) |
S138P |
possibly damaging |
Het |
| Dhrs9 |
G |
A |
2: 69,224,782 (GRCm39) |
G157R |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,411,678 (GRCm39) |
D3682E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,314,443 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,403,261 (GRCm39) |
H4L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,939,113 (GRCm38) |
I2319V |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,578 (GRCm39) |
W129R |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,827,550 (GRCm39) |
P603L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,293,641 (GRCm39) |
S346P |
probably damaging |
Het |
| Galnt2 |
T |
A |
8: 125,070,134 (GRCm39) |
S550R |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,274,559 (GRCm39) |
S312P |
probably benign |
Het |
| Gpr150 |
C |
A |
13: 76,204,511 (GRCm39) |
A145S |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,867,553 (GRCm39) |
W173R |
probably damaging |
Het |
| Hoxb9 |
C |
G |
11: 96,162,537 (GRCm39) |
P57R |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,954 (GRCm39) |
Q563R |
probably benign |
Het |
| Ighv1-58 |
A |
G |
12: 115,275,796 (GRCm39) |
F114S |
possibly damaging |
Het |
| Klra9 |
T |
A |
6: 130,162,563 (GRCm39) |
I158F |
probably damaging |
Het |
| Lrrc8d |
T |
C |
5: 105,960,210 (GRCm39) |
S207P |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,320 (GRCm39) |
E1929G |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,346,221 (GRCm39) |
M89T |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,927,208 (GRCm39) |
I20V |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,916,917 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,855 (GRCm39) |
D269G |
probably benign |
Het |
| Pfkp |
T |
A |
13: 6,647,908 (GRCm39) |
N556I |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,022,193 (GRCm39) |
S199T |
probably benign |
Het |
| Pik3r2 |
T |
A |
8: 71,222,408 (GRCm39) |
I515F |
probably damaging |
Het |
| Plcxd2 |
T |
A |
16: 45,785,524 (GRCm39) |
I294F |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,158,303 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,385,300 (GRCm39) |
I812V |
probably benign |
Het |
| Rsad1 |
A |
C |
11: 94,435,288 (GRCm39) |
D266E |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,088,705 (GRCm39) |
V485E |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,556,196 (GRCm39) |
Y451N |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,335,476 (GRCm39) |
I354N |
probably damaging |
Het |
| Spryd7 |
A |
T |
14: 61,783,129 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,499 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,179,601 (GRCm39) |
D214V |
probably damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,209,289 (GRCm39) |
I119V |
probably benign |
Het |
| Trim5 |
G |
A |
7: 103,927,633 (GRCm39) |
T169I |
probably benign |
Het |
| Ttc33 |
T |
C |
15: 5,241,506 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,997,431 (GRCm39) |
S1741T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,907,975 (GRCm39) |
N694S |
probably benign |
Het |
| Zfp174 |
T |
A |
16: 3,666,041 (GRCm39) |
I102N |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,960,539 (GRCm39) |
F248S |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,302,098 (GRCm39) |
C404S |
probably damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,723,000 (GRCm39) |
|
probably benign |
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 |
|
R7515:Rasa2
|
UTSW |
9 |
96,434,353 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- TCAGAAGTCACTATGTGTCAGGTAG -3'
(R):5'- TAGGCAGAGGTTAGGCATCC -3'
Sequencing Primer
(F):5'- CTCTCAAGGGAGCTGTGACAATG -3'
(R):5'- TTAGGCATCCTAGCTGGGAATAGC -3'
|
| Posted On |
2020-06-01 |
Incidental Mutation