Incidental Mutation 'R8089:Rasa2'
ID |
629849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasa2
|
Ensembl Gene |
ENSMUSG00000032413 |
Gene Name |
RAS p21 protein activator 2 |
Synonyms |
GAP1m, 5430433H21Rik |
MMRRC Submission |
067522-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
R8089 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 96435177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 604
(H604Q)
|
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: H604Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000034984 Gene: ENSMUSG00000032413 AA Change: H604Q
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.7%
|
Validation Efficiency |
93% (54/58) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,104,383 (GRCm39) |
V768I |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,757,780 (GRCm39) |
T1323I |
probably benign |
Het |
Adamtsl2 |
A |
G |
2: 26,994,809 (GRCm39) |
M828V |
probably benign |
Het |
Agmo |
A |
G |
12: 37,397,306 (GRCm39) |
D153G |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,260,340 (GRCm39) |
V185D |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,595,968 (GRCm39) |
N414D |
probably damaging |
Het |
Bin1 |
T |
A |
18: 32,562,236 (GRCm39) |
|
probably null |
Het |
Ccar1 |
C |
A |
10: 62,626,770 (GRCm39) |
M1I |
probably null |
Het |
Cdh26 |
T |
A |
2: 178,099,370 (GRCm39) |
|
probably null |
Het |
Csmd3 |
C |
T |
15: 47,532,603 (GRCm39) |
D1620N |
|
Het |
Dennd4a |
A |
T |
9: 64,756,457 (GRCm39) |
N204I |
probably damaging |
Het |
Dgkb |
G |
A |
12: 38,234,949 (GRCm39) |
S438N |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,021,897 (GRCm39) |
M1604T |
probably damaging |
Het |
Fhad1 |
T |
A |
4: 141,684,971 (GRCm39) |
D456V |
probably damaging |
Het |
Gcfc2 |
C |
T |
6: 81,902,771 (GRCm39) |
T86M |
probably damaging |
Het |
Idua |
T |
A |
5: 108,829,646 (GRCm39) |
M503K |
probably damaging |
Het |
Ift70b |
T |
C |
2: 75,767,647 (GRCm39) |
T369A |
possibly damaging |
Het |
Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,740,750 (GRCm39) |
S4676T |
unknown |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,722,567 (GRCm39) |
V243A |
possibly damaging |
Het |
Moxd1 |
A |
G |
10: 24,157,417 (GRCm39) |
T350A |
probably benign |
Het |
Nalcn |
A |
T |
14: 123,537,372 (GRCm39) |
W1175R |
probably damaging |
Het |
Or10u4 |
A |
T |
10: 129,802,566 (GRCm39) |
M1K |
probably null |
Het |
Or5h27 |
T |
G |
16: 59,006,073 (GRCm39) |
I258L |
unknown |
Het |
Or8g26 |
T |
A |
9: 39,095,927 (GRCm39) |
V148E |
probably damaging |
Het |
Pacsin2 |
A |
G |
15: 83,263,897 (GRCm39) |
I380T |
probably benign |
Het |
Plcd1 |
A |
C |
9: 118,905,060 (GRCm39) |
C214G |
possibly damaging |
Het |
Poglut3 |
C |
T |
9: 53,307,262 (GRCm39) |
A402V |
probably benign |
Het |
Ptprm |
C |
A |
17: 66,990,483 (GRCm39) |
W1385L |
possibly damaging |
Het |
Rab22a |
C |
T |
2: 173,530,013 (GRCm39) |
Q64* |
probably null |
Het |
Rasal1 |
G |
A |
5: 120,809,643 (GRCm39) |
G516D |
probably damaging |
Het |
Rasgrp3 |
A |
T |
17: 75,804,056 (GRCm39) |
I120L |
possibly damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rgs12 |
T |
C |
5: 35,177,692 (GRCm39) |
I742T |
probably damaging |
Het |
Scyl3 |
A |
G |
1: 163,763,996 (GRCm39) |
T121A |
possibly damaging |
Het |
Six5 |
T |
G |
7: 18,828,797 (GRCm39) |
F79C |
probably damaging |
Het |
Tbx3 |
G |
A |
5: 119,818,634 (GRCm39) |
R423H |
probably damaging |
Het |
Terf2ip |
C |
T |
8: 112,738,424 (GRCm39) |
T104M |
probably benign |
Het |
Tmem135 |
A |
G |
7: 88,805,703 (GRCm39) |
C234R |
probably damaging |
Het |
Tnxb |
C |
G |
17: 34,891,763 (GRCm39) |
A702G |
unknown |
Het |
Tspan1 |
T |
C |
4: 116,021,532 (GRCm39) |
K83R |
probably null |
Het |
Ttn |
C |
T |
2: 76,728,406 (GRCm39) |
|
probably null |
Het |
Usp5 |
A |
T |
6: 124,797,373 (GRCm39) |
|
probably null |
Het |
Vmn1r27 |
T |
A |
6: 58,192,194 (GRCm39) |
Y270F |
possibly damaging |
Het |
Vmn2r110 |
G |
A |
17: 20,803,807 (GRCm39) |
T256I |
probably benign |
Het |
Zfp831 |
T |
A |
2: 174,486,717 (GRCm39) |
L464Q |
possibly damaging |
Het |
Zscan4-ps3 |
C |
A |
7: 11,346,659 (GRCm39) |
H232N |
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 |
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 |
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'- TCCTAAGACGGAGCAGACAG -3'
(R):5'- CTAAGCAAGAGATTTCCAACCTGC -3'
Sequencing Primer
(F):5'- GCAGACAGGGCCGTGAG -3'
(R):5'- GGTATAGCCTTGGCTATCCAGAAAC -3'
|
Posted On |
2020-06-30 |