Incidental Mutation 'R6982:Rasa2'
| ID |
542740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
045383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R6982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96442803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 540
(I540N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034984]
[ENSMUST00000128346]
|
| AlphaFold |
P58069 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034984
AA Change: I540N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: I540N
| 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 |
0.8614 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,916,639 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
C |
A |
7: 82,164,271 (GRCm39) |
P362H |
probably damaging |
Het |
| Ambra1 |
G |
A |
2: 91,747,818 (GRCm39) |
V1065I |
probably damaging |
Het |
| Ankrd66 |
T |
C |
17: 43,849,926 (GRCm39) |
T79A |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,969,856 (GRCm39) |
R724H |
probably benign |
Het |
| Bmp8a |
A |
G |
4: 123,218,934 (GRCm39) |
L158P |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,087 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Clybl |
G |
A |
14: 122,639,359 (GRCm39) |
G308R |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,399,247 (GRCm39) |
P367S |
possibly damaging |
Het |
| Col20a1 |
T |
C |
2: 180,638,499 (GRCm39) |
V371A |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,020,807 (GRCm39) |
G393* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,521,033 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,986,899 (GRCm39) |
S3183T |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,746,993 (GRCm39) |
I435N |
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,322,300 (GRCm39) |
A107D |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,343,645 (GRCm38) |
Q367K |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,335,846 (GRCm39) |
D182G |
probably damaging |
Het |
| Gpr162 |
T |
A |
6: 124,837,919 (GRCm39) |
I244F |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,282,285 (GRCm39) |
N159I |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,527 (GRCm39) |
Y7* |
probably null |
Het |
| Kdm4a |
A |
T |
4: 118,010,636 (GRCm39) |
|
probably null |
Het |
| Klf5 |
A |
G |
14: 99,550,671 (GRCm39) |
H416R |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,211 (GRCm39) |
V631A |
probably benign |
Het |
| Man1a |
T |
C |
10: 53,950,819 (GRCm39) |
E101G |
possibly damaging |
Het |
| Msantd4 |
T |
A |
9: 4,384,061 (GRCm39) |
N127K |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,256,409 (GRCm39) |
E1248D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,699 (GRCm39) |
I672N |
probably damaging |
Het |
| Nfic |
T |
C |
10: 81,256,634 (GRCm39) |
|
probably null |
Het |
| Nr1h3 |
A |
G |
2: 91,021,104 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,618 (GRCm39) |
I174T |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,905,349 (GRCm39) |
|
probably null |
Het |
| Pcmtd1 |
T |
G |
1: 7,217,906 (GRCm39) |
V118G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,429,664 (GRCm39) |
N3294I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,364,796 (GRCm39) |
T74A |
probably benign |
Het |
| Serpina3j |
C |
A |
12: 104,283,556 (GRCm39) |
T218K |
probably benign |
Het |
| Slc16a4 |
A |
G |
3: 107,206,589 (GRCm39) |
D173G |
probably benign |
Het |
| Slc19a2 |
T |
C |
1: 164,084,428 (GRCm39) |
L106P |
possibly damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,660,334 (GRCm39) |
V359M |
probably benign |
Het |
| Slc22a7 |
T |
A |
17: 46,745,563 (GRCm39) |
M323L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,824,184 (GRCm39) |
N149I |
possibly damaging |
Het |
| Spink5 |
G |
A |
18: 44,110,792 (GRCm39) |
G121D |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,143,109 (GRCm39) |
|
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,060,815 (GRCm39) |
S6G |
possibly damaging |
Het |
| Sytl2 |
T |
C |
7: 90,045,772 (GRCm39) |
S641P |
probably damaging |
Het |
| Tcf3 |
A |
T |
10: 80,253,384 (GRCm39) |
F215I |
probably damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,680 (GRCm39) |
D61Y |
probably benign |
Het |
| Ttc7 |
T |
A |
17: 87,614,437 (GRCm39) |
F201I |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,285,867 (GRCm39) |
I208V |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,917 (GRCm39) |
T167A |
probably benign |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,763 (GRCm39) |
L98Q |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,323 (GRCm39) |
Y687H |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,187,445 (GRCm39) |
F783L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,890 (GRCm39) |
Y3016C |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,248 (GRCm39) |
T586A |
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 |
|
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'- TCAAAAGGTGACTACAGTAGAACAC -3'
(R):5'- GTCTTAGGCTTGGCTGCATC -3'
Sequencing Primer
(F):5'- CCACTAAAAGACCATTATTGCATGTG -3'
(R):5'- AGGCTTGGCTGCATCTTAAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation