Incidental Mutation 'R0348:Rasa2'
| ID |
36002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
038555-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R0348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96454012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 308
(L308H)
|
| 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: L308H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: L308H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190537
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
C |
11: 3,844,987 (GRCm39) |
D34G |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,508,337 (GRCm39) |
S237P |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,871,092 (GRCm39) |
D235A |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,233,623 (GRCm39) |
M1259L |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,214,510 (GRCm39) |
Q529R |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,670,888 (GRCm39) |
T96A |
possibly damaging |
Het |
| Ccdc148 |
A |
T |
2: 58,894,084 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
C |
12: 112,703,240 (GRCm39) |
Y568H |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,627,741 (GRCm39) |
I410N |
probably damaging |
Het |
| Cnot10 |
G |
A |
9: 114,427,838 (GRCm39) |
T592I |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,755,771 (GRCm39) |
A173T |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,402,789 (GRCm39) |
C560* |
probably null |
Het |
| Daglb |
G |
A |
5: 143,472,951 (GRCm39) |
V369I |
probably benign |
Het |
| Defb19 |
G |
A |
2: 152,422,146 (GRCm39) |
L8F |
unknown |
Het |
| Emcn |
G |
T |
3: 137,078,608 (GRCm39) |
E65* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,782,940 (GRCm39) |
R753L |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,586,689 (GRCm39) |
Y248C |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
| Gjd4 |
A |
G |
18: 9,280,964 (GRCm39) |
V38A |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,855 (GRCm39) |
V1365A |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,702 (GRCm39) |
S767P |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,548 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ift80 |
G |
T |
3: 68,843,232 (GRCm39) |
L367I |
probably benign |
Het |
| Igf2bp1 |
T |
C |
11: 95,859,719 (GRCm39) |
N369S |
possibly damaging |
Het |
| Igsf11 |
C |
A |
16: 38,829,179 (GRCm39) |
D24E |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,873,114 (GRCm39) |
L358F |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,519 (GRCm39) |
T298A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,558,818 (GRCm39) |
V297F |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,308,771 (GRCm39) |
Y422C |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,043,122 (GRCm39) |
W856R |
probably damaging |
Het |
| Liph |
C |
T |
16: 21,786,730 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
T |
A |
10: 125,849,317 (GRCm39) |
C1012* |
probably null |
Het |
| Lrit1 |
A |
G |
14: 36,782,182 (GRCm39) |
E285G |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,743,377 (GRCm39) |
V196A |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,167,424 (GRCm39) |
Y372H |
probably damaging |
Het |
| Mrpl50 |
A |
T |
4: 49,514,515 (GRCm39) |
V52E |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,006,766 (GRCm39) |
V676A |
probably damaging |
Het |
| Ncl |
C |
T |
1: 86,284,362 (GRCm39) |
D245N |
possibly damaging |
Het |
| Neil1 |
A |
T |
9: 57,054,065 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
A |
G |
8: 106,818,827 (GRCm39) |
E515G |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,449,108 (GRCm39) |
E70G |
possibly damaging |
Het |
| Nme3 |
A |
T |
17: 25,115,491 (GRCm39) |
I2F |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,051,292 (GRCm39) |
H364Y |
probably benign |
Het |
| Nxpe3 |
T |
A |
16: 55,686,898 (GRCm39) |
T37S |
probably benign |
Het |
| Olfm1 |
T |
A |
2: 28,102,554 (GRCm39) |
M76K |
probably benign |
Het |
| Pgbd5 |
A |
T |
8: 125,160,771 (GRCm39) |
V32E |
probably damaging |
Het |
| Plcb4 |
T |
C |
2: 135,810,339 (GRCm39) |
M646T |
probably damaging |
Het |
| Plekha7 |
G |
A |
7: 115,757,255 (GRCm39) |
P565L |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,535,374 (GRCm39) |
D213G |
probably null |
Het |
| Poli |
A |
G |
18: 70,656,452 (GRCm39) |
I125T |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,721,254 (GRCm39) |
M1T |
probably null |
Het |
| Psmd7 |
T |
C |
8: 108,307,523 (GRCm39) |
K320R |
unknown |
Het |
| Rabggtb |
A |
G |
3: 153,615,954 (GRCm39) |
V128A |
probably damaging |
Het |
| Serpina1d |
C |
T |
12: 103,730,034 (GRCm39) |
V383M |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,431,530 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
C |
17: 80,715,740 (GRCm39) |
T1006A |
probably benign |
Het |
| Sugp1 |
T |
A |
8: 70,522,658 (GRCm39) |
Y453N |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 10,047,455 (GRCm39) |
D64E |
probably benign |
Het |
| Tcf19 |
A |
T |
17: 35,826,801 (GRCm39) |
|
probably null |
Het |
| Trim60 |
T |
A |
8: 65,453,868 (GRCm39) |
H127L |
probably damaging |
Het |
| Tubb4a |
C |
T |
17: 57,387,770 (GRCm39) |
V419M |
probably damaging |
Het |
| Vmn2r22 |
G |
T |
6: 123,614,684 (GRCm39) |
T302K |
probably damaging |
Het |
| Vmn2r68 |
T |
G |
7: 84,870,884 (GRCm39) |
T800P |
possibly damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,300,965 (GRCm39) |
V2262G |
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 |
|
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 |
|
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'- AGTAGTTCCCAGAGCTGACCACAAG -3'
(R):5'- AATGTGCTGAGAACACAGTCCGCC -3'
Sequencing Primer
(F):5'- TCCGACATGTGGACGGATG -3'
(R):5'- CACAGTCCGCCCATGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation