Incidental Mutation 'R0931:Rasa2'
| ID |
80895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
039075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R0931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96434457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 610
(M610K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034984]
[ENSMUST00000128346]
|
| AlphaFold |
P58069 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034984
AA Change: M610K
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: M610K
| 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 |
noncoding transcript
Transcript: ENSMUST00000122752
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185435
|
| Meta Mutation Damage Score |
0.3315 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,168,084 (GRCm39) |
A476T |
probably benign |
Het |
| Ajm1 |
T |
C |
2: 25,468,501 (GRCm39) |
E470G |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,339 (GRCm39) |
S118P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,728,041 (GRCm39) |
T85A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,566,530 (GRCm39) |
L824P |
probably damaging |
Het |
| Ccr1 |
C |
A |
9: 123,763,827 (GRCm39) |
K234N |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,235,757 (GRCm39) |
R203G |
probably damaging |
Het |
| Col8a1 |
A |
G |
16: 57,448,931 (GRCm39) |
I193T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,552,070 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
T |
C |
9: 54,675,717 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cspp1 |
A |
T |
1: 10,174,511 (GRCm39) |
R655W |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,287,818 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,772 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,771,921 (GRCm39) |
S583P |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,921,676 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,550 (GRCm39) |
S552P |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,543,751 (GRCm39) |
|
probably benign |
Het |
| Gss |
A |
T |
2: 155,409,609 (GRCm39) |
|
probably benign |
Het |
| Hdhd3 |
G |
A |
4: 62,417,757 (GRCm39) |
R140* |
probably null |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,142 (GRCm39) |
S360G |
possibly damaging |
Het |
| Klk1b4 |
T |
C |
7: 43,860,480 (GRCm39) |
L166P |
probably damaging |
Het |
| Klri1 |
A |
T |
6: 129,674,381 (GRCm39) |
|
probably benign |
Het |
| Mettl27 |
T |
C |
5: 134,963,285 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,675,354 (GRCm39) |
H193L |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,115 (GRCm39) |
|
probably benign |
Het |
| Or10ac1 |
C |
A |
6: 42,515,020 (GRCm39) |
R312L |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,736 (GRCm39) |
Y62* |
probably null |
Het |
| Papolg |
A |
G |
11: 23,832,257 (GRCm39) |
I177T |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,238 (GRCm39) |
V220A |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,341 (GRCm39) |
L234P |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,484,047 (GRCm39) |
F3930S |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,440,944 (GRCm39) |
V997I |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,660,945 (GRCm39) |
|
probably benign |
Het |
| Ssu2 |
C |
A |
6: 112,361,359 (GRCm39) |
L32F |
probably damaging |
Het |
| Taar1 |
A |
T |
10: 23,797,181 (GRCm39) |
N293I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,611,846 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,325 (GRCm39) |
M389V |
possibly damaging |
Het |
| Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
| Zfp324 |
A |
G |
7: 12,700,185 (GRCm39) |
I15V |
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 |
|
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 |
|
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'- GGGACTTCAAAACCTACTGAGCACC -3'
(R):5'- GACAGCCCTGCATTGATAGAAGGAC -3'
Sequencing Primer
(F):5'- cctgttaagtctgtgcctttc -3'
(R):5'- CGTCCTGAGTCATCCCCAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation