Incidental Mutation 'R8025:Rgs3'
| ID |
617636 |
| 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 |
067464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8025 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 62608831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 366
(H366N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084521]
[ENSMUST00000107420]
[ENSMUST00000124082]
[ENSMUST00000126338]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084521
AA Change: H764N
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: H764N
| 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: ENSMUST00000107420
AA Change: H366N
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103043
Gene: ENSMUSG00000059810
AA Change: H366N
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
9 |
49 |
1.41e-9 |
PROSPERO |
|
internal_repeat_1
|
58 |
103 |
1.41e-9 |
PROSPERO |
|
low complexity region
|
247 |
276 |
N/A |
INTRINSIC |
|
RGS
|
443 |
559 |
3.66e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124082
|
| SMART Domains |
Protein: ENSMUSP00000115192
Gene: ENSMUSG00000059810
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126338
|
| SMART Domains |
Protein: ENSMUSP00000116041
Gene: ENSMUSG00000059810
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
9 |
49 |
1.09e-5 |
PROSPERO |
|
internal_repeat_1
|
58 |
103 |
1.09e-5 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
T |
G |
3: 79,536,635 (GRCm39) |
L51R |
probably damaging |
Het |
| Actl7b |
T |
C |
4: 56,741,137 (GRCm39) |
T74A |
probably damaging |
Het |
| Aip |
C |
A |
19: 4,165,346 (GRCm39) |
A207S |
probably benign |
Het |
| AL732309.1 |
A |
G |
2: 25,136,331 (GRCm39) |
|
probably benign |
Het |
| Apcdd1 |
G |
T |
18: 63,069,979 (GRCm39) |
C82F |
probably damaging |
Het |
| Arhgap42 |
T |
G |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,955,921 (GRCm39) |
I1056N |
probably benign |
Het |
| Bzw2 |
T |
C |
12: 36,157,517 (GRCm39) |
E316G |
probably damaging |
Het |
| Carns1 |
A |
T |
19: 4,216,505 (GRCm39) |
I559N |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,649 (GRCm39) |
V222E |
probably damaging |
Het |
| Cngb3 |
A |
T |
4: 19,280,960 (GRCm39) |
N10Y |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,038,158 (GRCm39) |
K267E |
|
Het |
| Dhx32 |
A |
G |
7: 133,323,100 (GRCm39) |
Y705H |
probably damaging |
Het |
| Dnah7c |
G |
A |
1: 46,496,456 (GRCm39) |
V114I |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,960,311 (GRCm39) |
C2229* |
probably null |
Het |
| Dync2i2 |
T |
C |
2: 29,938,730 (GRCm39) |
Q51R |
probably benign |
Het |
| Gm14401 |
T |
C |
2: 176,778,249 (GRCm39) |
F112L |
probably damaging |
Het |
| Gm57858 |
C |
A |
3: 36,073,136 (GRCm39) |
R382L |
probably damaging |
Het |
| Habp4 |
G |
A |
13: 64,322,645 (GRCm39) |
R238H |
probably benign |
Het |
| Herpud1 |
A |
G |
8: 95,119,149 (GRCm39) |
Y301C |
probably damaging |
Het |
| Itih5 |
G |
A |
2: 10,245,833 (GRCm39) |
A641T |
probably benign |
Het |
| Kcns3 |
A |
T |
12: 11,141,846 (GRCm39) |
N284K |
probably damaging |
Het |
| Mcrs1 |
G |
A |
15: 99,144,814 (GRCm39) |
Q267* |
probably null |
Het |
| Midn |
G |
A |
10: 79,991,126 (GRCm39) |
A379T |
probably benign |
Het |
| Muc21 |
GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA |
GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA |
17: 35,931,879 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,127,224 (GRCm39) |
N996K |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,930 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or4d2b |
A |
T |
11: 87,779,777 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
| Or5m11 |
A |
T |
2: 85,781,856 (GRCm39) |
I150F |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,048,928 (GRCm39) |
V172A |
probably benign |
Het |
| Parpbp |
T |
C |
10: 87,928,970 (GRCm39) |
D490G |
probably benign |
Het |
| Pcbp2 |
T |
A |
15: 102,396,711 (GRCm39) |
S262R |
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,953,992 (GRCm39) |
I422T |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,538,415 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,308,254 (GRCm39) |
R1278W |
probably damaging |
Het |
| Polr1c |
A |
G |
17: 46,555,974 (GRCm39) |
L162P |
probably damaging |
Het |
| Rasl2-9 |
A |
G |
7: 5,128,481 (GRCm39) |
S150P |
probably damaging |
Het |
| Raver2 |
C |
A |
4: 100,960,162 (GRCm39) |
S214* |
probably null |
Het |
| Rbpjl |
C |
A |
2: 164,252,166 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
T |
G |
9: 58,567,605 (GRCm39) |
E127A |
possibly damaging |
Het |
| Recql5 |
C |
A |
11: 115,818,938 (GRCm39) |
L209F |
probably damaging |
Het |
| Rgs11 |
T |
C |
17: 26,423,359 (GRCm39) |
|
probably null |
Het |
| Rnf148 |
C |
T |
6: 23,654,196 (GRCm39) |
D267N |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,148,557 (GRCm39) |
N1007S |
probably benign |
Het |
| Sdcbp |
A |
G |
4: 6,393,022 (GRCm39) |
T220A |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,548,928 (GRCm39) |
N134S |
probably benign |
Het |
| Smg1 |
G |
A |
7: 117,806,212 (GRCm39) |
Q210* |
probably null |
Het |
| Snx7 |
A |
G |
3: 117,626,526 (GRCm39) |
V328A |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,138,837 (GRCm39) |
S247T |
probably benign |
Het |
| Tceanc2 |
C |
T |
4: 106,996,997 (GRCm39) |
|
probably null |
Het |
| Tead3 |
T |
C |
17: 28,554,009 (GRCm39) |
D141G |
probably benign |
Het |
| Tlcd5 |
T |
A |
9: 43,022,848 (GRCm39) |
T169S |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,546,270 (GRCm39) |
M692T |
probably damaging |
Het |
| Vmn1r188 |
T |
C |
13: 22,272,084 (GRCm39) |
F13L |
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,182,871 (GRCm39) |
V276A |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,076,183 (GRCm39) |
I443T |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,696,738 (GRCm39) |
N305S |
possibly damaging |
Het |
| Vps33b |
A |
T |
7: 79,940,094 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,050,781 (GRCm39) |
M91K |
probably benign |
Het |
| Xylb |
T |
C |
9: 119,210,569 (GRCm39) |
F351L |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,404,614 (GRCm39) |
D3883N |
unknown |
Het |
| Zfp82 |
T |
A |
7: 29,756,278 (GRCm39) |
H268L |
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 |
|
R7697:Rgs3
|
UTSW |
4 |
62,575,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CTGATTGAGACTGGCCAAGG -3'
(R):5'- GAAGGTTCATTGGGAAGTCTCTC -3'
Sequencing Primer
(F):5'- CGTGTGCAGAACTCGCTG -3'
(R):5'- TTGGGAAGTCTCTCAAAGAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation