Incidental Mutation 'R0332:Rasa2'
| ID |
35932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
038541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R0332 (G1)
|
| Quality Score |
110 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96488229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 90
(F90Y)
|
| 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: F90Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: F90Y
| 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 |
0.1086 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
100% (63/63) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
T |
C |
13: 95,505,954 (GRCm39) |
E211G |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,910 (GRCm39) |
N299S |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,874,701 (GRCm39) |
Y777* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,679,934 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,268 (GRCm39) |
|
probably null |
Het |
| Bop1 |
A |
G |
15: 76,340,187 (GRCm39) |
Y130H |
probably damaging |
Het |
| Ccar2 |
G |
T |
14: 70,379,384 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
G |
T |
8: 46,396,001 (GRCm39) |
E631* |
probably null |
Het |
| Cfap54 |
C |
T |
10: 92,871,319 (GRCm39) |
D634N |
probably damaging |
Het |
| Cldn8 |
C |
T |
16: 88,359,246 (GRCm39) |
|
silent |
Het |
| Cstf3 |
G |
T |
2: 104,476,812 (GRCm39) |
|
probably null |
Het |
| Dgkq |
T |
C |
5: 108,802,965 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,366,204 (GRCm39) |
L546* |
probably null |
Het |
| Eif3g |
A |
T |
9: 20,809,280 (GRCm39) |
|
probably benign |
Het |
| Fam228a |
T |
A |
12: 4,785,018 (GRCm39) |
I38F |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,128,518 (GRCm39) |
|
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,083,018 (GRCm39) |
V105L |
probably benign |
Het |
| Gm10644 |
A |
G |
8: 84,660,210 (GRCm39) |
L45S |
possibly damaging |
Het |
| Gm7275 |
A |
T |
16: 47,894,132 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7579 |
T |
C |
7: 141,766,112 (GRCm39) |
S173P |
unknown |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Grep1 |
A |
T |
17: 23,933,578 (GRCm39) |
|
probably benign |
Het |
| Hspb8 |
T |
A |
5: 116,547,532 (GRCm39) |
D150V |
probably damaging |
Het |
| Ifitm1 |
T |
C |
7: 140,548,366 (GRCm39) |
|
probably benign |
Het |
| Ifnl2 |
T |
C |
7: 28,208,756 (GRCm39) |
T99A |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,166,925 (GRCm39) |
L577P |
probably damaging |
Het |
| Jph4 |
T |
C |
14: 55,351,467 (GRCm39) |
E183G |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,471,526 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
A |
6: 121,826,856 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
C |
A |
7: 5,320,629 (GRCm39) |
C836F |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,039,616 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,672 (GRCm39) |
I215F |
probably damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,352 (GRCm39) |
L288S |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,477,502 (GRCm39) |
E98G |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,303,558 (GRCm39) |
N1648D |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,465,581 (GRCm39) |
R277S |
probably benign |
Het |
| Ppp1r36 |
T |
A |
12: 76,474,677 (GRCm39) |
F86L |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,056,753 (GRCm39) |
L278Q |
probably damaging |
Het |
| Setd3 |
T |
C |
12: 108,073,838 (GRCm39) |
K480E |
probably benign |
Het |
| Slc66a1 |
C |
T |
4: 139,027,610 (GRCm39) |
S244N |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,345,983 (GRCm39) |
F389L |
probably benign |
Het |
| Sulf2 |
G |
A |
2: 165,931,119 (GRCm39) |
T296M |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,418,614 (GRCm39) |
H214Q |
probably damaging |
Het |
| Tbx4 |
A |
T |
11: 85,789,356 (GRCm39) |
M12L |
probably benign |
Het |
| Tlk1 |
A |
T |
2: 70,575,909 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
C |
T |
16: 45,501,001 (GRCm39) |
V267M |
probably benign |
Het |
| Tmub2 |
G |
A |
11: 102,179,174 (GRCm39) |
R291H |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,783,822 (GRCm39) |
V217E |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,596,226 (GRCm39) |
V20229A |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,538 (GRCm39) |
|
probably null |
Het |
| Usf2 |
T |
A |
7: 30,654,604 (GRCm39) |
M199L |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,534,869 (GRCm39) |
S26T |
possibly damaging |
Het |
| Vrk1 |
G |
C |
12: 106,024,884 (GRCm39) |
Q253H |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,064,534 (GRCm39) |
|
probably null |
Het |
| Xrra1 |
T |
C |
7: 99,525,449 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,255 (GRCm39) |
I1435T |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,188,877 (GRCm39) |
H550L |
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 |
|
|
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 |
|
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'- AGACAGCAACCTTCTGCCAGTCTC -3'
(R):5'- GCACCTAAAGTCTCCTCAGTTCACC -3'
Sequencing Primer
(F):5'- GCCAGTCTCTTGGTGTGAAC -3'
(R):5'- TCCTCAGTTCACCTCGATTTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation