Incidental Mutation 'R9094:Rgs3'
| ID |
691195 |
| 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 |
068909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9094 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62500240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 26
(I26F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065870]
[ENSMUST00000098031]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065870
AA Change: I26F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
AA Change: I26F
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (67/70) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110021N24Rik |
T |
C |
4: 108,637,744 (GRCm39) |
V37A |
unknown |
Het |
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Abi3bp |
A |
G |
16: 56,456,590 (GRCm39) |
I1021V |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,253,264 (GRCm39) |
K1848N |
probably benign |
Het |
| Anln |
A |
G |
9: 22,249,283 (GRCm39) |
V1005A |
probably benign |
Het |
| Arb2a |
A |
G |
13: 78,311,725 (GRCm39) |
K356R |
possibly damaging |
Het |
| Arid3b |
A |
G |
9: 57,741,327 (GRCm39) |
Y40H |
probably damaging |
Het |
| Bco1 |
A |
C |
8: 117,859,917 (GRCm39) |
D540A |
probably benign |
Het |
| Blnk |
A |
G |
19: 40,982,482 (GRCm39) |
I7T |
probably benign |
Het |
| Brca2 |
T |
G |
5: 150,475,770 (GRCm39) |
D2493E |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,988,052 (GRCm39) |
M2567L |
unknown |
Het |
| Cacna1e |
T |
A |
1: 154,355,064 (GRCm39) |
Y693F |
possibly damaging |
Het |
| Catsperg1 |
G |
C |
7: 28,884,152 (GRCm39) |
T987R |
probably damaging |
Het |
| Cpa4 |
G |
T |
6: 30,574,393 (GRCm39) |
D61Y |
possibly damaging |
Het |
| Cpne1 |
A |
C |
2: 155,921,080 (GRCm39) |
V70G |
probably damaging |
Het |
| Dnase1l3 |
A |
T |
14: 7,987,306 (GRCm38) |
N81K |
probably damaging |
Het |
| Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fbxo34 |
C |
G |
14: 47,767,928 (GRCm39) |
H480Q |
probably benign |
Het |
| Frmd4b |
T |
C |
6: 97,398,559 (GRCm39) |
E96G |
|
Het |
| Gdpgp1 |
T |
A |
7: 79,888,216 (GRCm39) |
D82E |
probably benign |
Het |
| Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
| Grpel1 |
A |
G |
5: 36,626,823 (GRCm39) |
N35S |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,273,291 (GRCm39) |
T665A |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,301,559 (GRCm39) |
T886A |
probably benign |
Het |
| Insig1 |
T |
A |
5: 28,278,570 (GRCm39) |
C128* |
probably null |
Het |
| Kcnk10 |
T |
A |
12: 98,484,775 (GRCm39) |
E120D |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,195,369 (GRCm39) |
N418S |
possibly damaging |
Het |
| Kifbp |
A |
G |
10: 62,395,037 (GRCm39) |
V535A |
probably damaging |
Het |
| Klhl20 |
T |
A |
1: 160,933,055 (GRCm39) |
H251L |
probably damaging |
Het |
| Ldlrad3 |
T |
C |
2: 101,888,326 (GRCm39) |
D127G |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,182 (GRCm39) |
Y388C |
probably damaging |
Het |
| Lrrc4 |
G |
A |
6: 28,830,206 (GRCm39) |
R47W |
possibly damaging |
Het |
| Luzp1 |
A |
T |
4: 136,272,562 (GRCm39) |
D1022V |
probably damaging |
Het |
| Mllt1 |
C |
A |
17: 57,212,737 (GRCm39) |
R132L |
probably damaging |
Het |
| Ncoa1 |
G |
T |
12: 4,345,494 (GRCm39) |
H618N |
possibly damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,861 (GRCm39) |
S318P |
probably damaging |
Het |
| Ngly1 |
A |
C |
14: 16,280,721 (GRCm38) |
T301P |
probably damaging |
Het |
| Npy5r |
G |
A |
8: 67,133,560 (GRCm39) |
T411I |
probably damaging |
Het |
| Or55b10 |
T |
C |
7: 102,143,568 (GRCm39) |
E138G |
possibly damaging |
Het |
| Or5d46 |
A |
G |
2: 88,170,248 (GRCm39) |
N113S |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,101,593 (GRCm39) |
I262N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pm20d1 |
C |
A |
1: 131,730,481 (GRCm39) |
A245D |
possibly damaging |
Het |
| Rars1 |
T |
C |
11: 35,718,182 (GRCm39) |
|
probably benign |
Het |
| Rbms2 |
T |
A |
10: 127,987,107 (GRCm39) |
I62F |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,700,809 (GRCm39) |
T1769S |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,378,854 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
A |
T |
6: 83,128,018 (GRCm39) |
N406Y |
possibly damaging |
Het |
| Rtn4r |
A |
T |
16: 17,969,708 (GRCm39) |
I379F |
possibly damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Slmap |
T |
C |
14: 26,137,355 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,975,050 (GRCm39) |
N519K |
possibly damaging |
Het |
| Srebf2 |
A |
T |
15: 82,056,975 (GRCm39) |
I237F |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,651 (GRCm39) |
S1479G |
possibly damaging |
Het |
| Tbc1d24 |
C |
A |
17: 24,400,274 (GRCm39) |
E537* |
probably null |
Het |
| Ttf1 |
T |
A |
2: 28,957,080 (GRCm39) |
I450K |
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,893,288 (GRCm38) |
S2P |
unknown |
Het |
| Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
| Vmn2r25 |
C |
T |
6: 123,805,391 (GRCm39) |
V489I |
probably benign |
Het |
| Wfdc8 |
C |
T |
2: 164,439,245 (GRCm39) |
R379H |
unknown |
Het |
| Zeb2 |
C |
T |
2: 45,003,136 (GRCm39) |
|
probably benign |
Het |
| Zfp3 |
C |
T |
11: 70,663,241 (GRCm39) |
T400I |
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,941,932 (GRCm39) |
I369T |
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 |
|
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'- CTTGCAGGGGACATAGCTAATG -3'
(R):5'- TATACATGGTCAAGTGCAAATGAGC -3'
Sequencing Primer
(F):5'- ATAGCTAATGTTTGCTCTGCTCCTG -3'
(R):5'- GGTCAAGTGCAAATGAGCCACATAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation