Incidental Mutation 'R1485:Rasa2'
| ID |
163410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
039538-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R1485 (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 G
at 96426401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 815
(I815T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034984]
[ENSMUST00000128346]
|
| AlphaFold |
P58069 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034984
AA Change: I815T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: I815T
| 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: ENSMUST00000188853
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,727,738 (GRCm39) |
S301P |
probably damaging |
Het |
| AI987944 |
C |
A |
7: 41,023,954 (GRCm39) |
G342* |
probably null |
Het |
| Alox5 |
A |
T |
6: 116,401,125 (GRCm39) |
F212I |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,896,105 (GRCm39) |
D322E |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,275,009 (GRCm39) |
Y355* |
probably null |
Het |
| Bloc1s6 |
T |
G |
2: 122,588,063 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,176,406 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,165,972 (GRCm39) |
L240Q |
probably damaging |
Het |
| Ccdc77 |
G |
A |
6: 120,315,101 (GRCm39) |
Q183* |
probably null |
Het |
| Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Coch |
G |
T |
12: 51,645,072 (GRCm39) |
V209F |
probably damaging |
Het |
| Cops3 |
G |
A |
11: 59,718,715 (GRCm39) |
T193M |
possibly damaging |
Het |
| Cped1 |
T |
C |
6: 22,132,387 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,067 (GRCm39) |
S77C |
unknown |
Het |
| Defb7 |
A |
G |
8: 19,545,110 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,590,603 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,610,843 (GRCm39) |
|
probably null |
Het |
| Evc2 |
C |
T |
5: 37,527,900 (GRCm39) |
A303V |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,430 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,712,676 (GRCm39) |
F54I |
probably benign |
Het |
| Gm7104 |
C |
A |
12: 88,252,333 (GRCm39) |
|
noncoding transcript |
Het |
| Grid1 |
A |
T |
14: 34,544,540 (GRCm39) |
D37V |
probably damaging |
Het |
| Icam5 |
G |
A |
9: 20,947,702 (GRCm39) |
A560T |
probably benign |
Het |
| Igf2r |
A |
C |
17: 12,910,172 (GRCm39) |
I2019S |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,929 (GRCm39) |
V65A |
probably benign |
Het |
| Kif3b |
T |
C |
2: 153,164,851 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
G |
9: 44,738,225 (GRCm39) |
|
probably benign |
Het |
| Marchf6 |
T |
A |
15: 31,498,839 (GRCm39) |
T153S |
probably damaging |
Het |
| Mcam |
T |
A |
9: 44,048,060 (GRCm39) |
I72N |
probably damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,224,785 (GRCm39) |
|
noncoding transcript |
Het |
| Nkain3 |
T |
C |
4: 20,484,932 (GRCm39) |
I48M |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,737,504 (GRCm39) |
I107N |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,007,573 (GRCm39) |
H441R |
probably benign |
Het |
| Nr1d1 |
G |
A |
11: 98,661,187 (GRCm39) |
R360C |
probably benign |
Het |
| Or56a5 |
A |
G |
7: 104,792,888 (GRCm39) |
I210T |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,763,793 (GRCm39) |
S4089P |
unknown |
Het |
| Pi4kb |
A |
G |
3: 94,901,698 (GRCm39) |
E455G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,208,788 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,016,908 (GRCm39) |
V283A |
possibly damaging |
Het |
| Pramel12 |
G |
A |
4: 143,144,188 (GRCm39) |
R178Q |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,127,653 (GRCm39) |
D202E |
probably benign |
Het |
| Septin14 |
C |
T |
5: 129,770,118 (GRCm39) |
A193T |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,876,370 (GRCm39) |
S112G |
probably benign |
Het |
| Siah3 |
T |
A |
14: 75,762,994 (GRCm39) |
Y82N |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,853 (GRCm39) |
S425P |
probably damaging |
Het |
| Slc9a2 |
C |
T |
1: 40,765,548 (GRCm39) |
L313F |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,230,433 (GRCm39) |
V50A |
probably benign |
Het |
| Spata31e2 |
T |
G |
1: 26,724,961 (GRCm39) |
K73T |
possibly damaging |
Het |
| Supt3 |
G |
A |
17: 45,347,607 (GRCm39) |
A197T |
probably benign |
Het |
| Tex10 |
A |
G |
4: 48,436,492 (GRCm39) |
I742T |
possibly damaging |
Het |
| Tex44 |
T |
A |
1: 86,355,640 (GRCm39) |
H516Q |
possibly damaging |
Het |
| Tfdp1 |
T |
G |
8: 13,420,917 (GRCm39) |
D171E |
probably damaging |
Het |
| Trim31 |
A |
C |
17: 37,209,568 (GRCm39) |
D108A |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,791,579 (GRCm39) |
N135S |
probably benign |
Het |
| Uso1 |
G |
A |
5: 92,328,422 (GRCm39) |
V340I |
possibly damaging |
Het |
| Utp6 |
A |
C |
11: 79,839,749 (GRCm39) |
V313G |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,109 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xdh |
C |
A |
17: 74,221,014 (GRCm39) |
E572* |
probably null |
Het |
| Zbtb7c |
T |
C |
18: 76,270,061 (GRCm39) |
S50P |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,395 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,791,635 (GRCm39) |
|
probably null |
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 |
|
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'- GACATTCAAAGCAGTGATGACGCTC -3'
(R):5'- ACAGTCACCTGTGCTCTTGTCAAAG -3'
Sequencing Primer
(F):5'- TGATGACGCTCAGCACTGAC -3'
(R):5'- CTGTGCTCTTGTCAAAGAAACTCAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation