Incidental Mutation 'IGL02995:Rgs3'
| ID |
407089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.081)
|
| Stock # |
IGL02995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62544084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 285
(H285Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065870]
[ENSMUST00000084521]
[ENSMUST00000098031]
[ENSMUST00000107424]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065870
AA Change: H293Q
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
AA Change: H293Q
| 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 |
possibly damaging
Transcript: ENSMUST00000084521
AA Change: H116Q
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: H116Q
| 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 |
possibly damaging
Transcript: ENSMUST00000098031
AA Change: H285Q
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
AA Change: H285Q
| 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 |
possibly damaging
Transcript: ENSMUST00000107424
AA Change: H116Q
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103047
Gene: ENSMUSG00000059810
AA Change: H116Q
| 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
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
| Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
| C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
| D2hgdh |
G |
T |
1: 93,757,558 (GRCm39) |
D158Y |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
| Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,502,895 (GRCm39) |
V323M |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
| Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,216 (GRCm39) |
I700M |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
| Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,600 (GRCm39) |
H174Q |
probably damaging |
Het |
| Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
| Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
| Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Prr27 |
T |
C |
5: 87,990,675 (GRCm39) |
S96P |
probably benign |
Het |
| Psip1 |
T |
A |
4: 83,381,954 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation