Incidental Mutation 'R9522:Rgs3'
| ID |
718940 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62523729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 53
(I53M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065870]
[ENSMUST00000098031]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065870
AA Change: I53M
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
AA Change: I53M
| 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
AA Change: I45M
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
AA Change: I45M
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,847,368 (GRCm39) |
Y744F |
probably null |
Het |
| Adam17 |
C |
A |
12: 21,395,693 (GRCm39) |
V277F |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,792,560 (GRCm39) |
C132Y |
probably damaging |
Het |
| Adgrf3 |
G |
A |
5: 30,404,482 (GRCm39) |
P318L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,579,398 (GRCm39) |
I212N |
probably damaging |
Het |
| Allc |
A |
T |
12: 28,620,653 (GRCm39) |
F33I |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,027,450 (GRCm39) |
T7A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,260,691 (GRCm39) |
|
probably null |
Het |
| Btbd1 |
G |
T |
7: 81,479,081 (GRCm39) |
P20H |
unknown |
Het |
| Cass4 |
A |
G |
2: 172,269,348 (GRCm39) |
I477V |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,586,184 (GRCm39) |
E362G |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,623,467 (GRCm39) |
S5C |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,412,347 (GRCm39) |
D896G |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,117,429 (GRCm39) |
V305A |
probably benign |
Het |
| Cse1l |
G |
A |
2: 166,776,673 (GRCm39) |
V495I |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,152,257 (GRCm39) |
Y36* |
probably null |
Het |
| Ctss |
T |
G |
3: 95,454,109 (GRCm39) |
D220E |
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,324,900 (GRCm39) |
L113P |
probably benign |
Het |
| Cyp2d40 |
G |
A |
15: 82,648,274 (GRCm39) |
A13V |
possibly damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,716,219 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dpysl5 |
C |
A |
5: 30,935,399 (GRCm39) |
Y167* |
probably null |
Het |
| E4f1 |
C |
T |
17: 24,666,096 (GRCm39) |
G234D |
probably damaging |
Het |
| Eif3g |
G |
T |
9: 20,809,451 (GRCm39) |
T27N |
probably benign |
Het |
| Eif3g |
T |
A |
9: 20,809,452 (GRCm39) |
T27S |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,101 (GRCm39) |
F343L |
possibly damaging |
Het |
| Fdft1 |
T |
C |
14: 63,396,597 (GRCm39) |
|
probably null |
Het |
| Hsd3b9 |
T |
C |
3: 98,353,783 (GRCm39) |
S239G |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,917,215 (GRCm39) |
Q1562K |
probably benign |
Het |
| Ilf3 |
G |
A |
9: 21,305,533 (GRCm39) |
V232I |
probably benign |
Het |
| Irx5 |
C |
T |
8: 93,087,259 (GRCm39) |
T397M |
possibly damaging |
Het |
| Kif16b |
A |
T |
2: 142,691,827 (GRCm39) |
V219D |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,730,052 (GRCm39) |
I276M |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,200,266 (GRCm39) |
L115P |
probably damaging |
Het |
| Lrrc3b |
T |
C |
14: 15,358,423 (GRCm38) |
D61G |
probably benign |
Het |
| Map7 |
A |
G |
10: 20,105,642 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,857,375 (GRCm39) |
I462F |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5b98 |
T |
A |
19: 12,931,377 (GRCm39) |
C141* |
probably null |
Het |
| Or9m2 |
G |
A |
2: 87,821,175 (GRCm39) |
C240Y |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,669 (GRCm39) |
V770A |
possibly damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,240,886 (GRCm39) |
A819V |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,236,676 (GRCm39) |
W242R |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 51,971,311 (GRCm39) |
F263S |
probably damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,743 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,560,759 (GRCm39) |
I3001F |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,873,900 (GRCm39) |
I675T |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,853,987 (GRCm39) |
I330N |
possibly damaging |
Het |
| Sec16b |
C |
T |
1: 157,392,335 (GRCm39) |
S901L |
probably damaging |
Het |
| Setd5 |
T |
G |
6: 113,091,995 (GRCm39) |
I272S |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,672 (GRCm39) |
M536K |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,780 (GRCm39) |
S643P |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,019,107 (GRCm39) |
D251G |
probably benign |
Het |
| Tbccd1 |
T |
C |
16: 22,641,249 (GRCm39) |
E376G |
possibly damaging |
Het |
| Tmem184a |
G |
T |
5: 139,791,485 (GRCm39) |
P368T |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,539,309 (GRCm39) |
D362G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,677,274 (GRCm39) |
H612R |
probably benign |
Het |
| Ugt3a1 |
C |
A |
15: 9,370,209 (GRCm39) |
P451H |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,677,221 (GRCm39) |
C2050Y |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,202 (GRCm39) |
V131A |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,924 (GRCm39) |
F110S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,232,379 (GRCm39) |
Y282C |
probably damaging |
Het |
| Zscan18 |
T |
C |
7: 12,503,297 (GRCm39) |
D754G |
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 |
|
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 |
|
Z1177:Rgs3
|
UTSW |
4 |
62,549,451 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGCTGCTAGAACACGTTG -3'
(R):5'- AAGAGTCTAGACCAGCGTGG -3'
Sequencing Primer
(F):5'- GCAGAGATGGGGTCAAAACC -3'
(R):5'- AGCGTGGGGCCTCATGAATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation