Incidental Mutation 'R8489:Rgs3'
| ID |
657874 |
| 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 |
067932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8489 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62544733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 200
(L200Q)
|
| 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: L377Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
AA Change: L377Q
| 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: L200Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: L200Q
| 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: L369Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
AA Change: L369Q
| 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: L200Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103047
Gene: ENSMUSG00000059810
AA Change: L200Q
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,254 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
T |
G |
10: 80,143,298 (GRCm39) |
L466R |
probably damaging |
Het |
| Baz1b |
C |
A |
5: 135,245,709 (GRCm39) |
P386H |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,533,999 (GRCm39) |
D389G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,083,962 (GRCm39) |
|
probably null |
Het |
| Cmas |
C |
A |
6: 142,702,596 (GRCm39) |
A33E |
probably benign |
Het |
| Dcaf7 |
A |
G |
11: 105,942,743 (GRCm39) |
N230S |
probably damaging |
Het |
| Dcun1d5 |
C |
A |
9: 7,206,837 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,986,389 (GRCm39) |
D58V |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,831 (GRCm39) |
Q477K |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,672,999 (GRCm39) |
N90S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,804,435 (GRCm39) |
I1848F |
possibly damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,769,534 (GRCm39) |
M522L |
probably benign |
Het |
| Fshr |
C |
A |
17: 89,293,795 (GRCm39) |
K294N |
probably benign |
Het |
| Gja10 |
T |
C |
4: 32,601,866 (GRCm39) |
I173V |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,941,614 (GRCm39) |
S32P |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,180 (GRCm39) |
N95D |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,758,219 (GRCm39) |
T715A |
probably damaging |
Het |
| Klrc2 |
A |
G |
6: 129,635,787 (GRCm39) |
S97P |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,721,364 (GRCm39) |
S151L |
probably benign |
Het |
| Man2a1 |
G |
T |
17: 64,908,765 (GRCm39) |
S12I |
possibly damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,164,085 (GRCm39) |
T117A |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,701 (GRCm39) |
V124E |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,180,128 (GRCm39) |
W690R |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,150,745 (GRCm39) |
K817E |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,328 (GRCm39) |
I185T |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,400 (GRCm39) |
*149Q |
probably null |
Het |
| Or5p60 |
T |
A |
7: 107,724,372 (GRCm39) |
I33F |
probably benign |
Het |
| Or8b50 |
T |
C |
9: 38,518,232 (GRCm39) |
M157T |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,709,038 (GRCm39) |
I759N |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,207 (GRCm39) |
N396Y |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,766,437 (GRCm39) |
C1542S |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,274,121 (GRCm39) |
V450E |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,121 (GRCm39) |
K574E |
probably damaging |
Het |
| Pramel52-ps |
T |
C |
5: 94,531,551 (GRCm39) |
L145P |
probably damaging |
Het |
| Psmc1 |
C |
T |
12: 100,089,356 (GRCm39) |
R410C |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,374,024 (GRCm39) |
S201L |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,479,846 (GRCm39) |
M1293V |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,131,019 (GRCm39) |
G298D |
probably damaging |
Het |
| Scn8a |
C |
A |
15: 100,867,014 (GRCm39) |
F123L |
probably damaging |
Het |
| Snapc3 |
G |
A |
4: 83,369,531 (GRCm39) |
C353Y |
probably damaging |
Het |
| Sned1 |
C |
A |
1: 93,210,978 (GRCm39) |
S231* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,574 (GRCm39) |
T2335A |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,502,526 (GRCm39) |
G481D |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,343 (GRCm39) |
F2027V |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,711,548 (GRCm39) |
A1449T |
probably benign |
Het |
| Ulk1 |
G |
T |
5: 110,947,002 (GRCm39) |
Y89* |
probably null |
Het |
| Usp54 |
A |
G |
14: 20,611,604 (GRCm39) |
F1071L |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,587,190 (GRCm39) |
E949K |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,964 (GRCm39) |
T651S |
possibly damaging |
Het |
| Wdfy1 |
A |
G |
1: 79,739,368 (GRCm39) |
L17P |
probably damaging |
Het |
| Zfp672 |
G |
A |
11: 58,220,681 (GRCm39) |
|
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 |
|
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 |
|
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'- GTCCATGGAGCACACTTTGG -3'
(R):5'- CTGTTTCGAGATGCTGGGTAAC -3'
Sequencing Primer
(F):5'- CCATGAAGGAAGCTGTGGTCTCTC -3'
(R):5'- GGTAACCCCAGCTCCATCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation