Incidental Mutation 'R5229:Rgs3'
| ID |
403641 |
| 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 |
042802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5229 (G1)
|
| Quality Score |
136 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62620424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 550
(L550P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084521]
[ENSMUST00000107420]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084521
AA Change: L948P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: L948P
| 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: L550P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103043
Gene: ENSMUSG00000059810
AA Change: L550P
| 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 |
noncoding transcript
Transcript: ENSMUST00000125369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150203
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153875
AA Change: L107P
|
| SMART Domains |
Protein: ENSMUSP00000123310
Gene: ENSMUSG00000059810
AA Change: L107P
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
1 |
117 |
8.1e-46 |
SMART |
|
| Meta Mutation Damage Score |
0.9605 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930444P10Rik |
T |
C |
1: 16,151,183 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
G |
16: 4,667,915 (GRCm39) |
I435M |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,089,440 (GRCm39) |
I546V |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,027,806 (GRCm39) |
T10A |
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,803,409 (GRCm39) |
D2254Y |
possibly damaging |
Het |
| Bub1b |
C |
A |
2: 118,460,470 (GRCm39) |
D600E |
probably damaging |
Het |
| Cnga1 |
A |
G |
5: 72,766,843 (GRCm39) |
S199P |
probably damaging |
Het |
| Cyp3a11 |
G |
T |
5: 145,791,945 (GRCm39) |
L483I |
probably benign |
Het |
| Depp1 |
T |
C |
6: 116,628,992 (GRCm39) |
S112P |
possibly damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,466,016 (GRCm39) |
G457V |
probably damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
| Epb41 |
C |
A |
4: 131,706,246 (GRCm39) |
G415C |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,808,494 (GRCm39) |
V69M |
possibly damaging |
Het |
| F2 |
A |
T |
2: 91,460,586 (GRCm39) |
Y301* |
probably null |
Het |
| F2rl2 |
A |
T |
13: 95,837,195 (GRCm39) |
N80I |
possibly damaging |
Het |
| Fam237b |
A |
T |
5: 5,625,565 (GRCm39) |
Y87F |
possibly damaging |
Het |
| Gm15446 |
T |
G |
5: 110,091,036 (GRCm39) |
H429Q |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,031,290 (GRCm39) |
G148D |
probably damaging |
Het |
| Gpr26 |
A |
T |
7: 131,585,976 (GRCm39) |
R315S |
probably damaging |
Het |
| Hdac9 |
A |
C |
12: 34,487,163 (GRCm39) |
H100Q |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,994,761 (GRCm39) |
V457D |
probably benign |
Het |
| Igkv10-96 |
A |
G |
6: 68,609,223 (GRCm39) |
M24T |
possibly damaging |
Het |
| Igkv2-95-2 |
A |
G |
6: 68,625,095 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm4a |
G |
A |
4: 118,003,802 (GRCm39) |
S758F |
probably damaging |
Het |
| Lrg1 |
A |
G |
17: 56,427,154 (GRCm39) |
W273R |
probably damaging |
Het |
| Man2a1 |
A |
T |
17: 65,017,729 (GRCm39) |
Q658H |
probably benign |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,454 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
T |
C |
1: 128,261,321 (GRCm39) |
D761G |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,175,310 (GRCm39) |
Y286F |
probably damaging |
Het |
| Nbn |
C |
T |
4: 15,963,893 (GRCm39) |
T98I |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,906,305 (GRCm39) |
S685P |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,143,238 (GRCm39) |
V80A |
probably benign |
Het |
| Or10al5 |
A |
G |
17: 38,063,192 (GRCm39) |
H149R |
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,507,401 (GRCm39) |
M390K |
probably damaging |
Het |
| Pon1 |
C |
T |
6: 5,177,295 (GRCm39) |
V205I |
possibly damaging |
Het |
| Ppp4r2 |
C |
A |
6: 100,842,176 (GRCm39) |
H212Q |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,548,372 (GRCm39) |
D11G |
possibly damaging |
Het |
| Prl2c5 |
G |
A |
13: 13,360,441 (GRCm39) |
C33Y |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,159,917 (GRCm39) |
F379L |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,444,340 (GRCm39) |
D344N |
probably damaging |
Het |
| Rnasek |
A |
T |
11: 70,130,486 (GRCm39) |
M25K |
probably damaging |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,520 (GRCm39) |
T60S |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,365,042 (GRCm39) |
F392S |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,827,871 (GRCm39) |
V209E |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,080 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
A |
G |
19: 40,329,151 (GRCm39) |
I554T |
probably damaging |
Het |
| Spats1 |
A |
G |
17: 45,777,059 (GRCm39) |
|
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,859,919 (GRCm39) |
Q202R |
probably damaging |
Het |
| Trav6-5 |
T |
G |
14: 53,729,045 (GRCm39) |
S102A |
probably damaging |
Het |
| Tspan2 |
T |
C |
3: 102,676,215 (GRCm39) |
M208T |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,471,635 (GRCm39) |
S84P |
probably damaging |
Het |
| Vmn1r237 |
C |
A |
17: 21,534,633 (GRCm39) |
Q119K |
probably benign |
Het |
| Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
| Zfp65 |
A |
T |
13: 67,856,929 (GRCm39) |
S117T |
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 |
|
|
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 |
|
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'- TAATGCAGGTCTTGTGGGCC -3'
(R):5'- ATCTGTTGGTCTGGAGACACAG -3'
Sequencing Primer
(F):5'- ATGGTACTTGGCCTCCAGACAG -3'
(R):5'- TCTGGAGACACAGCCTCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation