Incidental Mutation 'R7697:Rgs3'
| ID |
593701 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R7697 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62575379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 589
(P589S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065870]
[ENSMUST00000084521]
[ENSMUST00000098031]
[ENSMUST00000107424]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065870
AA Change: P589S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
AA Change: P589S
| 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: ENSMUST00000084521
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
| 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: ENSMUST00000098031
AA Change: P581S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
AA Change: P581S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107424
AA Change: P412S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103047
Gene: ENSMUSG00000059810
AA Change: P412S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
95 |
8.09e-10 |
SMART |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
T |
C |
14: 54,500,216 (GRCm39) |
V87A |
probably damaging |
Het |
| Acadsb |
A |
G |
7: 131,031,698 (GRCm39) |
E178G |
probably damaging |
Het |
| Acoxl |
A |
G |
2: 127,820,702 (GRCm39) |
T365A |
probably benign |
Het |
| Adcy8 |
T |
G |
15: 64,618,850 (GRCm39) |
I768L |
probably benign |
Het |
| Bloc1s4 |
A |
G |
5: 36,905,959 (GRCm39) |
S11P |
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,095,496 (GRCm39) |
I122V |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,847,601 (GRCm39) |
D673G |
probably benign |
Het |
| Cbx8 |
C |
A |
11: 118,931,637 (GRCm39) |
E14* |
probably null |
Het |
| Cep295 |
T |
A |
9: 15,266,006 (GRCm39) |
M49L |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,669,765 (GRCm39) |
N273D |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,185,127 (GRCm39) |
V663E |
probably damaging |
Het |
| Cntn3 |
C |
T |
6: 102,185,128 (GRCm39) |
V663M |
probably damaging |
Het |
| Cspg5 |
G |
C |
9: 110,085,294 (GRCm39) |
R488S |
probably damaging |
Het |
| Csrnp2 |
A |
T |
15: 100,385,953 (GRCm39) |
M95K |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,566,657 (GRCm39) |
V136E |
|
Het |
| Drg2 |
T |
A |
11: 60,353,003 (GRCm39) |
I212N |
probably damaging |
Het |
| Egfem1 |
T |
C |
3: 29,744,346 (GRCm39) |
|
probably null |
Het |
| Eif1ad18 |
T |
C |
12: 88,050,749 (GRCm39) |
Y95H |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,102,750 (GRCm39) |
D402V |
probably damaging |
Het |
| Fanci |
T |
A |
7: 79,056,040 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
T |
A |
10: 93,881,306 (GRCm39) |
V720D |
probably damaging |
Het |
| Fhod1 |
T |
A |
8: 106,074,563 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,456,516 (GRCm39) |
I2238N |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,488,892 (GRCm39) |
E79G |
probably damaging |
Het |
| Gabrr2 |
A |
T |
4: 33,071,358 (GRCm39) |
Y66F |
probably benign |
Het |
| Ggnbp1 |
T |
G |
17: 27,249,736 (GRCm39) |
I192S |
probably benign |
Het |
| Gm32742 |
C |
T |
9: 51,058,901 (GRCm39) |
V1039I |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,482,121 (GRCm39) |
L11P |
probably damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,263,208 (GRCm39) |
Y25C |
probably damaging |
Het |
| Ildr2 |
C |
A |
1: 166,122,300 (GRCm39) |
Q248K |
probably benign |
Het |
| Klrb1c |
T |
C |
6: 128,757,273 (GRCm39) |
H264R |
probably benign |
Het |
| Lrp11 |
C |
T |
10: 7,479,983 (GRCm39) |
A346V |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,711 (GRCm39) |
P1319L |
probably damaging |
Het |
| Mcm9 |
A |
C |
10: 53,491,990 (GRCm39) |
F392V |
|
Het |
| Med12l |
C |
T |
3: 59,148,078 (GRCm39) |
A965V |
probably damaging |
Het |
| Mrps7 |
A |
G |
11: 115,495,701 (GRCm39) |
T80A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,624,765 (GRCm39) |
Y2125* |
probably null |
Het |
| Myoc |
A |
G |
1: 162,475,049 (GRCm39) |
E200G |
probably damaging |
Het |
| Natd1 |
A |
G |
11: 60,797,808 (GRCm39) |
V39A |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,789,159 (GRCm39) |
T486I |
probably damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,645 (GRCm39) |
Y261C |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,157 (GRCm39) |
Q98R |
probably damaging |
Het |
| Or2c1 |
G |
A |
16: 3,657,430 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,162 (GRCm39) |
H193L |
probably benign |
Het |
| Pdss2 |
T |
A |
10: 43,221,544 (GRCm39) |
I152N |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,065,885 (GRCm39) |
E1395G |
unknown |
Het |
| Polr2b |
T |
C |
5: 77,468,059 (GRCm39) |
Y120H |
probably damaging |
Het |
| Pyroxd2 |
C |
T |
19: 42,735,805 (GRCm39) |
C99Y |
probably benign |
Het |
| Rela |
T |
C |
19: 5,691,630 (GRCm39) |
V268A |
probably damaging |
Het |
| Rtn1 |
A |
G |
12: 72,455,151 (GRCm39) |
S59P |
probably benign |
Het |
| Siae |
A |
G |
9: 37,544,950 (GRCm39) |
Y315C |
probably damaging |
Het |
| Susd3 |
C |
A |
13: 49,391,074 (GRCm39) |
W147L |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,702,047 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,728,030 (GRCm39) |
Y131C |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,677,104 (GRCm39) |
P2011L |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,316,990 (GRCm39) |
E1853G |
possibly damaging |
Het |
| Wls |
C |
A |
3: 159,616,955 (GRCm39) |
H331Q |
probably benign |
Het |
| Xkr6 |
C |
A |
14: 63,844,628 (GRCm39) |
P217Q |
probably 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 |
|
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 |
|
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'- AAACTGAGGCCTCTTCCAGAC -3'
(R):5'- AGGGTCCCTCATACCACTGTTC -3'
Sequencing Primer
(F):5'- TTCCAGACGTGACACTGC -3'
(R):5'- TGTTGCCAGGTCCACACAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation