Incidental Mutation 'R8059:Rgs3'
| ID |
660792 |
| 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 |
067894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 62521214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065870]
[ENSMUST00000098031]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065870
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
47 |
150 |
7.98e-15 |
SMART |
|
PDZ
|
203 |
272 |
8.09e-10 |
SMART |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098031
|
| SMART Domains |
Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
39 |
142 |
7.98e-15 |
SMART |
|
PDZ
|
195 |
264 |
8.09e-10 |
SMART |
|
low complexity region
|
457 |
467 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,279 (GRCm39) |
M3372K |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 105,100,948 (GRCm39) |
|
probably null |
Het |
| Adam19 |
G |
A |
11: 46,027,293 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
G |
T |
10: 14,344,794 (GRCm39) |
T53K |
probably damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,875,095 (GRCm39) |
L705R |
probably damaging |
Het |
| Cep78 |
A |
T |
19: 15,958,876 (GRCm39) |
V156E |
probably benign |
Het |
| Cers2 |
A |
G |
3: 95,229,982 (GRCm39) |
D342G |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,651,948 (GRCm39) |
I272N |
probably damaging |
Het |
| Defb30 |
A |
G |
14: 63,273,383 (GRCm39) |
*77Q |
probably null |
Het |
| Dnai3 |
C |
G |
3: 145,752,428 (GRCm39) |
R749S |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,911,708 (GRCm39) |
V63A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Entpd2 |
G |
T |
2: 25,288,096 (GRCm39) |
V107L |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,161 (GRCm39) |
H799L |
possibly damaging |
Het |
| Hira |
T |
C |
16: 18,730,901 (GRCm39) |
V200A |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,120,883 (GRCm39) |
K269E |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,369,003 (GRCm39) |
S326G |
probably benign |
Het |
| Kctd19 |
T |
G |
8: 106,122,983 (GRCm39) |
I144L |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,842,057 (GRCm39) |
I36T |
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,504,216 (GRCm39) |
T34A |
probably benign |
Het |
| Maco1 |
A |
T |
4: 134,555,359 (GRCm39) |
C371* |
probably null |
Het |
| Maml3 |
A |
G |
3: 51,764,110 (GRCm39) |
S285P |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,973,504 (GRCm39) |
Y492H |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 103,114,478 (GRCm39) |
N303K |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,345,481 (GRCm39) |
R163C |
probably damaging |
Het |
| Mtmr7 |
C |
T |
8: 41,034,564 (GRCm39) |
A253T |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,876,372 (GRCm39) |
P468L |
unknown |
Het |
| Nckap1l |
T |
C |
15: 103,401,714 (GRCm39) |
S1084P |
possibly damaging |
Het |
| Nek11 |
T |
C |
9: 105,040,173 (GRCm39) |
*629W |
probably null |
Het |
| Nfkb1 |
C |
T |
3: 135,299,613 (GRCm39) |
A731T |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,775 (GRCm39) |
V442A |
probably damaging |
Het |
| Oaz2 |
C |
T |
9: 65,596,425 (GRCm39) |
P163L |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,223 (GRCm39) |
T231A |
probably benign |
Het |
| Or6d14 |
C |
T |
6: 116,533,434 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,306 (GRCm39) |
V140A |
probably benign |
Het |
| Pabpc2 |
A |
T |
18: 39,907,875 (GRCm39) |
N380I |
probably benign |
Het |
| Pax3 |
T |
C |
1: 78,080,003 (GRCm39) |
D461G |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,731,300 (GRCm39) |
R1443L |
unknown |
Het |
| Per1 |
G |
A |
11: 68,997,309 (GRCm39) |
R828H |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,622,189 (GRCm39) |
S144T |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,012,941 (GRCm39) |
I207N |
probably damaging |
Het |
| Psmc6 |
A |
T |
14: 45,578,260 (GRCm39) |
I208F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,719,491 (GRCm39) |
S2494P |
probably damaging |
Het |
| Rtraf |
T |
C |
14: 19,872,631 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,294,792 (GRCm39) |
N166K |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,272,572 (GRCm39) |
T348S |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,532,347 (GRCm39) |
A39S |
probably benign |
Het |
| Slc8a3 |
C |
T |
12: 81,249,032 (GRCm39) |
G799S |
probably damaging |
Het |
| Sp1 |
T |
G |
15: 102,316,337 (GRCm39) |
S46R |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,045,936 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
G |
A |
14: 30,882,198 (GRCm39) |
P499L |
probably benign |
Het |
| Trav21-dv12 |
C |
A |
14: 54,114,178 (GRCm39) |
D99E |
probably damaging |
Het |
| Trpv6 |
T |
G |
6: 41,601,520 (GRCm39) |
I467L |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,548,842 (GRCm39) |
Y12C |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,698 (GRCm39) |
N84S |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,696,690 (GRCm39) |
F480S |
probably benign |
Het |
| Zc3h13 |
C |
G |
14: 75,565,250 (GRCm39) |
R788G |
unknown |
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 |
|
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 |
|
R9065:Rgs3
|
UTSW |
4 |
62,620,465 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- TTACTCCTTTGCCAGTGTGG -3'
(R):5'- TGACAGAGACTGGGTCTACAG -3'
Sequencing Primer
(F):5'- AACCAGGTGGCTTTGGAAGTC -3'
(R):5'- CTGGGTCTACAGAAAGCAGCTC -3'
|
| Posted On |
2021-03-02 |
Incidental Mutation