Incidental Mutation 'R9065:Rgs3'
| ID |
689192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs3
|
| Ensembl Gene |
ENSMUSG00000059810 |
| Gene Name |
regulator of G-protein signaling 3 |
| Synonyms |
4930506N09Rik, C2PA-RGS3, C2pa, PDZ-RGS3, RGS3S |
| MMRRC Submission |
068890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9065 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62620465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 564
(M564L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084521]
[ENSMUST00000107420]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084521
AA Change: M962L
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: M962L
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
95 |
8.09e-10 |
SMART |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
407 |
447 |
2.05e-9 |
PROSPERO |
|
internal_repeat_1
|
456 |
501 |
2.05e-9 |
PROSPERO |
|
low complexity region
|
645 |
674 |
N/A |
INTRINSIC |
|
RGS
|
841 |
957 |
3.66e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107420
AA Change: M564L
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103043
Gene: ENSMUSG00000059810
AA Change: M564L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
9 |
49 |
1.41e-9 |
PROSPERO |
|
internal_repeat_1
|
58 |
103 |
1.41e-9 |
PROSPERO |
|
low complexity region
|
247 |
276 |
N/A |
INTRINSIC |
|
RGS
|
443 |
559 |
3.66e-53 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123310
Gene: ENSMUSG00000059810
AA Change: M121L
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
1 |
117 |
8.1e-46 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,323,084 (GRCm39) |
N1472S |
probably benign |
Het |
| 4930447C04Rik |
C |
A |
12: 72,939,604 (GRCm39) |
Q435H |
possibly damaging |
Het |
| Aass |
G |
T |
6: 23,075,746 (GRCm39) |
A797E |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,608,223 (GRCm39) |
Y565N |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,269,372 (GRCm39) |
T1162A |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,887,131 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,894,297 (GRCm39) |
P111S |
probably damaging |
Het |
| Ccdc66 |
T |
A |
14: 27,213,850 (GRCm39) |
E328D |
probably damaging |
Het |
| Cldn8 |
T |
A |
16: 88,359,902 (GRCm39) |
M8L |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,558,142 (GRCm39) |
L96* |
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,445,642 (GRCm39) |
C561S |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,293,936 (GRCm39) |
D1347G |
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,682,888 (GRCm39) |
V390A |
|
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Eps15l1 |
G |
T |
8: 73,145,762 (GRCm39) |
S157* |
probably null |
Het |
| Ercc6l2 |
A |
G |
13: 63,967,866 (GRCm39) |
I155M |
possibly damaging |
Het |
| Esco1 |
G |
T |
18: 10,594,005 (GRCm39) |
T427K |
probably benign |
Het |
| Fignl1 |
C |
T |
11: 11,752,692 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,177 (GRCm39) |
S172G |
probably damaging |
Het |
| Frmd3 |
A |
T |
4: 74,063,269 (GRCm39) |
|
probably null |
Het |
| Fuz |
C |
T |
7: 44,546,721 (GRCm39) |
R119W |
probably damaging |
Het |
| Gtf2ird2 |
T |
G |
5: 134,225,407 (GRCm39) |
I165S |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,657,833 (GRCm39) |
I417F |
probably damaging |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,580,889 (GRCm39) |
W327R |
probably benign |
Het |
| Msrb2 |
T |
A |
2: 19,383,041 (GRCm39) |
F56I |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,554,305 (GRCm39) |
I3996T |
unknown |
Het |
| Myh4 |
C |
A |
11: 67,139,573 (GRCm39) |
A630E |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Oacyl |
T |
A |
18: 65,840,484 (GRCm39) |
F85Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,530 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5b118 |
T |
A |
19: 13,448,670 (GRCm39) |
I70N |
probably damaging |
Het |
| Or6c69b |
T |
A |
10: 129,626,727 (GRCm39) |
I244F |
possibly damaging |
Het |
| Pcdha11 |
A |
C |
18: 37,139,877 (GRCm39) |
E502A |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,582 (GRCm39) |
E1509G |
possibly damaging |
Het |
| Pfkm |
A |
T |
15: 98,021,680 (GRCm39) |
S314C |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,674,924 (GRCm39) |
H230R |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,251,893 (GRCm39) |
V427E |
possibly damaging |
Het |
| Ppox |
TCTTATACCTGGAC |
TC |
1: 171,105,447 (GRCm39) |
|
probably benign |
Het |
| Prr11 |
G |
A |
11: 86,992,249 (GRCm39) |
P209S |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,109,304 (GRCm39) |
Q1690K |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,149,452 (GRCm39) |
Y820H |
probably damaging |
Het |
| Six4 |
A |
C |
12: 73,159,498 (GRCm39) |
I154S |
possibly damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,856,276 (GRCm39) |
H638L |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,801,989 (GRCm39) |
K323E |
probably damaging |
Het |
| Stmn4 |
A |
T |
14: 66,596,126 (GRCm39) |
|
probably null |
Het |
| Tafa2 |
A |
G |
10: 123,429,421 (GRCm39) |
K12E |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,689,518 (GRCm39) |
R227* |
probably null |
Het |
| Tcp1 |
T |
A |
17: 13,139,210 (GRCm39) |
V179D |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,038 (GRCm39) |
F388L |
probably damaging |
Het |
| Tsc2 |
G |
T |
17: 24,822,164 (GRCm39) |
P1126H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,612,720 (GRCm39) |
I17120F |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,778,270 (GRCm39) |
K1372N |
unknown |
Het |
| U2surp |
T |
C |
9: 95,359,563 (GRCm39) |
T652A |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,592,972 (GRCm39) |
V2239A |
probably benign |
Het |
| Vps33b |
A |
G |
7: 79,935,339 (GRCm39) |
T356A |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,623,262 (GRCm39) |
H1786Q |
|
Het |
| Wwox |
A |
G |
8: 115,215,682 (GRCm39) |
I152V |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,977,418 (GRCm39) |
T405A |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,712 (GRCm39) |
I257F |
possibly damaging |
Het |
|
| Other mutations in Rgs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Rgs3
|
APN |
4 |
62,619,417 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00918:Rgs3
|
APN |
4 |
62,619,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01594:Rgs3
|
APN |
4 |
62,537,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01761:Rgs3
|
APN |
4 |
62,570,946 (GRCm39) |
splice site |
probably benign |
|
|
IGL02995:Rgs3
|
APN |
4 |
62,544,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03365:Rgs3
|
APN |
4 |
62,607,912 (GRCm39) |
missense |
probably benign |
|
|
R0098:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Rgs3
|
UTSW |
4 |
62,542,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Rgs3
|
UTSW |
4 |
62,544,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Rgs3
|
UTSW |
4 |
62,564,910 (GRCm39) |
splice site |
probably benign |
|
|
R0893:Rgs3
|
UTSW |
4 |
62,523,798 (GRCm39) |
splice site |
probably null |
|
|
R1612:Rgs3
|
UTSW |
4 |
62,544,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1929:Rgs3
|
UTSW |
4 |
62,620,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Rgs3
|
UTSW |
4 |
62,608,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Rgs3
|
UTSW |
4 |
62,544,124 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2380:Rgs3
|
UTSW |
4 |
62,544,124 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2974:Rgs3
|
UTSW |
4 |
62,558,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Rgs3
|
UTSW |
4 |
62,549,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5229:Rgs3
|
UTSW |
4 |
62,620,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Rgs3
|
UTSW |
4 |
62,570,934 (GRCm39) |
intron |
probably benign |
|
|
R5597:Rgs3
|
UTSW |
4 |
62,542,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Rgs3
|
UTSW |
4 |
62,542,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6732:Rgs3
|
UTSW |
4 |
62,521,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6962:Rgs3
|
UTSW |
4 |
62,618,952 (GRCm39) |
intron |
probably benign |
|
|
R7141:Rgs3
|
UTSW |
4 |
62,608,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Rgs3
|
UTSW |
4 |
62,535,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7193:Rgs3
|
UTSW |
4 |
62,533,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7459:Rgs3
|
UTSW |
4 |
62,543,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7660:Rgs3
|
UTSW |
4 |
62,619,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7697:Rgs3
|
UTSW |
4 |
62,575,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8025:Rgs3
|
UTSW |
4 |
62,608,831 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8059:Rgs3
|
UTSW |
4 |
62,521,214 (GRCm39) |
splice site |
probably benign |
|
|
R8242:Rgs3
|
UTSW |
4 |
62,538,022 (GRCm39) |
missense |
probably benign |
|
|
R8413:Rgs3
|
UTSW |
4 |
62,544,254 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8489:Rgs3
|
UTSW |
4 |
62,544,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Rgs3
|
UTSW |
4 |
62,521,193 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8880:Rgs3
|
UTSW |
4 |
62,543,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Rgs3
|
UTSW |
4 |
62,500,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Rgs3
|
UTSW |
4 |
62,559,019 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9483:Rgs3
|
UTSW |
4 |
62,575,354 (GRCm39) |
nonsense |
probably null |
|
|
R9498:Rgs3
|
UTSW |
4 |
62,575,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Rgs3
|
UTSW |
4 |
62,523,729 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Rgs3
|
UTSW |
4 |
62,549,451 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGACTCCACAGGTAAACC -3'
(R):5'- AGGGCGTTAAGGACCTGATG -3'
Sequencing Primer
(F):5'- GGTAAACCTGGACTCCTACAC -3'
(R):5'- TAAGGACCTGATGCGGCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation