Incidental Mutation 'R1612:Rgs3'
| ID |
176852 |
| 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 |
039649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62544172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 146
(V146M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065870]
[ENSMUST00000084521]
[ENSMUST00000098031]
[ENSMUST00000107424]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065870
AA Change: V323M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
AA Change: V323M
| 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 damaging
Transcript: ENSMUST00000084521
AA Change: V146M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: V146M
| 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 damaging
Transcript: ENSMUST00000098031
AA Change: V315M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
AA Change: V315M
| 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 damaging
Transcript: ENSMUST00000107424
AA Change: V146M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103047
Gene: ENSMUSG00000059810
AA Change: V146M
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
95 |
8.09e-10 |
SMART |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154071
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (69/71) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
A |
G |
3: 79,538,451 (GRCm39) |
T66A |
probably benign |
Het |
| Actb |
A |
G |
5: 142,891,350 (GRCm39) |
F31S |
probably damaging |
Het |
| Adamts7 |
T |
C |
9: 90,070,750 (GRCm39) |
S624P |
possibly damaging |
Het |
| Adh7 |
T |
C |
3: 137,934,642 (GRCm39) |
I355T |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,241,538 (GRCm39) |
E106G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,245 (GRCm39) |
V1483A |
possibly damaging |
Het |
| Cabp7 |
T |
C |
11: 4,689,198 (GRCm39) |
D149G |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,268,998 (GRCm39) |
Q362L |
possibly damaging |
Het |
| Cd14 |
G |
A |
18: 36,858,718 (GRCm39) |
Q246* |
probably null |
Het |
| Cdr2l |
A |
C |
11: 115,284,232 (GRCm39) |
E189D |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,654,748 (GRCm39) |
V991A |
probably damaging |
Het |
| Coq7 |
A |
G |
7: 118,109,134 (GRCm39) |
W305R |
unknown |
Het |
| Cracr2a |
G |
T |
6: 127,580,892 (GRCm39) |
G23* |
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,366 (GRCm39) |
L40P |
possibly damaging |
Het |
| Eps8 |
G |
A |
6: 137,477,616 (GRCm39) |
P531S |
probably benign |
Het |
| Faap100 |
C |
A |
11: 120,267,914 (GRCm39) |
L286F |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,194,824 (GRCm39) |
C1446S |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,795,454 (GRCm39) |
V127A |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,490 (GRCm39) |
D1261G |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
| Gbp11 |
G |
T |
5: 105,474,462 (GRCm39) |
Q405K |
possibly damaging |
Het |
| Gdi2 |
T |
A |
13: 3,610,051 (GRCm39) |
V260E |
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,633,033 (GRCm39) |
V98M |
possibly damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,431 (GRCm39) |
Y278C |
probably damaging |
Het |
| Gm7732 |
G |
A |
17: 21,350,177 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,264,344 (GRCm39) |
|
probably null |
Het |
| Hbs1l |
T |
G |
10: 21,234,734 (GRCm39) |
F596V |
probably damaging |
Het |
| Krt78 |
A |
T |
15: 101,860,279 (GRCm39) |
|
probably null |
Het |
| Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,969,601 (GRCm39) |
Y274C |
probably damaging |
Het |
| Limd1 |
A |
G |
9: 123,347,219 (GRCm39) |
Y620C |
probably damaging |
Het |
| Lvrn |
G |
T |
18: 47,027,770 (GRCm39) |
A862S |
probably damaging |
Het |
| Map4k2 |
A |
G |
19: 6,393,371 (GRCm39) |
E206G |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,735,079 (GRCm39) |
S461P |
probably damaging |
Het |
| Mrfap1 |
C |
A |
5: 36,953,706 (GRCm39) |
A78S |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,220,959 (GRCm39) |
N1715K |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,252,265 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
G |
T |
14: 16,290,867 (GRCm38) |
G450* |
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,501 (GRCm39) |
M98L |
probably benign |
Het |
| Or5k3 |
T |
C |
16: 58,969,987 (GRCm39) |
M258T |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,118,791 (GRCm39) |
Y643* |
probably null |
Het |
| Pdilt |
T |
G |
7: 119,086,198 (GRCm39) |
N506H |
possibly damaging |
Het |
| Pear1 |
C |
T |
3: 87,659,160 (GRCm39) |
|
probably null |
Het |
| Pfkp |
A |
T |
13: 6,638,625 (GRCm39) |
M582K |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,403,820 (GRCm39) |
F251I |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,989,004 (GRCm39) |
Y252H |
probably damaging |
Het |
| Prdx3 |
A |
G |
19: 60,862,872 (GRCm39) |
S12P |
possibly damaging |
Het |
| Prkag2 |
T |
C |
5: 25,082,026 (GRCm39) |
I96V |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,889 (GRCm39) |
|
probably benign |
Het |
| Serpinh1 |
T |
C |
7: 98,998,138 (GRCm39) |
D164G |
probably damaging |
Het |
| Slc35d2 |
T |
C |
13: 64,259,324 (GRCm39) |
|
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,718,008 (GRCm39) |
N316D |
probably damaging |
Het |
| Snx14 |
A |
T |
9: 88,258,958 (GRCm39) |
M973K |
possibly damaging |
Het |
| Sptan1 |
C |
G |
2: 29,893,348 (GRCm39) |
R1126G |
probably damaging |
Het |
| Stpg3 |
T |
C |
2: 25,103,866 (GRCm39) |
T157A |
probably benign |
Het |
| Tmem39b |
A |
T |
4: 129,580,715 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,471 (GRCm39) |
|
probably null |
Het |
| Tsen34 |
G |
T |
7: 3,698,395 (GRCm39) |
G180W |
probably damaging |
Het |
| Ube2l6 |
C |
T |
2: 84,636,717 (GRCm39) |
R54W |
probably damaging |
Het |
| Vdac1 |
A |
T |
11: 52,274,897 (GRCm39) |
T182S |
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,058,515 (GRCm39) |
|
probably benign |
Het |
| Wsb1 |
T |
A |
11: 79,139,411 (GRCm39) |
Q95L |
probably benign |
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 |
|
|
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 |
|
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'- AGCTGTCCTAGCGAGATCATCCTG -3'
(R):5'- ATGCTCCATGAAGTGGTGGCAC -3'
Sequencing Primer
(F):5'- CGAGATCATCCTGCTCGTG -3'
(R):5'- CCCGttttttttggttttgttttttg -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation