Incidental Mutation 'R3932:Rgs9'
| ID |
308517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs9
|
| Ensembl Gene |
ENSMUSG00000020599 |
| Gene Name |
regulator of G-protein signaling 9 |
| Synonyms |
RGS9-1, Rgs9-2 |
| MMRRC Submission |
040919-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109116181-109188955 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 109166639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020920]
[ENSMUST00000106704]
[ENSMUST00000106706]
|
| AlphaFold |
O54828 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020920
|
| SMART Domains |
Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
30 |
105 |
2.2e-16 |
SMART |
|
G_gamma
|
216 |
280 |
5.01e-17 |
SMART |
|
GGL
|
219 |
280 |
5.55e-23 |
SMART |
|
RGS
|
299 |
414 |
4.47e-48 |
SMART |
|
low complexity region
|
486 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
574 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106704
|
| SMART Domains |
Protein: ENSMUSP00000102315
Gene: ENSMUSG00000020599
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
30 |
105 |
2.2e-16 |
SMART |
|
Blast:G_gamma
|
154 |
229 |
4e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106706
|
| SMART Domains |
Protein: ENSMUSP00000102317
Gene: ENSMUSG00000020599
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
30 |
105 |
2.2e-16 |
SMART |
|
G_gamma
|
216 |
280 |
5.01e-17 |
SMART |
|
GGL
|
219 |
280 |
5.55e-23 |
SMART |
|
RGS
|
299 |
414 |
4.47e-48 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| 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 RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile; however, relative to wild-type, homozygous null photoreceptors display abnormally retarded recovery of their light responses, and slowed rates of GTP hydrolysis by transducin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arl1 |
C |
T |
10: 88,569,398 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,476,852 (GRCm39) |
M1189T |
possibly damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| Cdc34b |
G |
A |
11: 94,633,441 (GRCm39) |
V214M |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,665,619 (GRCm39) |
T2985A |
probably benign |
Het |
| Clcc1 |
T |
C |
3: 108,580,682 (GRCm39) |
M332T |
probably damaging |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ctdnep1 |
A |
G |
11: 69,880,400 (GRCm39) |
|
probably benign |
Het |
| Edar |
C |
T |
10: 58,446,164 (GRCm39) |
C221Y |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,322,280 (GRCm39) |
Q1295L |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,575,397 (GRCm39) |
A71T |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,759,983 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,542,071 (GRCm39) |
W247R |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,725,893 (GRCm39) |
H553R |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| H2-Q6 |
C |
T |
17: 35,644,542 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Med10 |
A |
G |
13: 69,958,101 (GRCm39) |
N18D |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,124,165 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Morn5 |
C |
A |
2: 35,943,035 (GRCm39) |
T45N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,195,515 (GRCm39) |
T432A |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,529,896 (GRCm39) |
E2148D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,595 (GRCm39) |
T236A |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,598,801 (GRCm39) |
F227Y |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,994 (GRCm39) |
M285T |
possibly damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,968,989 (GRCm39) |
I110V |
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,545 (GRCm39) |
E212K |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,413,704 (GRCm39) |
I307T |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,473,384 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,342 (GRCm39) |
D961G |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
A |
11: 78,289,226 (GRCm39) |
Y495F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,845,458 (GRCm39) |
D67V |
probably damaging |
Het |
| Tmem94 |
T |
C |
11: 115,680,080 (GRCm39) |
M30T |
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,662,417 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,988,617 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,336 (GRCm39) |
M783V |
probably damaging |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
| Zfp94 |
T |
G |
7: 24,003,112 (GRCm39) |
D110A |
probably benign |
Het |
|
| Other mutations in Rgs9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Rgs9
|
APN |
11 |
109,139,875 (GRCm39) |
splice site |
probably benign |
|
|
IGL01949:Rgs9
|
APN |
11 |
109,150,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02479:Rgs9
|
APN |
11 |
109,116,478 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03170:Rgs9
|
APN |
11 |
109,150,681 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1368:Rgs9
|
UTSW |
11 |
109,138,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1499:Rgs9
|
UTSW |
11 |
109,159,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1780:Rgs9
|
UTSW |
11 |
109,130,325 (GRCm39) |
nonsense |
probably null |
|
|
R2422:Rgs9
|
UTSW |
11 |
109,116,603 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2509:Rgs9
|
UTSW |
11 |
109,159,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2510:Rgs9
|
UTSW |
11 |
109,159,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2511:Rgs9
|
UTSW |
11 |
109,159,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4179:Rgs9
|
UTSW |
11 |
109,172,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4801:Rgs9
|
UTSW |
11 |
109,131,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Rgs9
|
UTSW |
11 |
109,131,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Rgs9
|
UTSW |
11 |
109,116,570 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5073:Rgs9
|
UTSW |
11 |
109,118,157 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5209:Rgs9
|
UTSW |
11 |
109,130,420 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5286:Rgs9
|
UTSW |
11 |
109,130,277 (GRCm39) |
splice site |
probably null |
|
|
R5449:Rgs9
|
UTSW |
11 |
109,116,570 (GRCm39) |
missense |
probably benign |
|
|
R6046:Rgs9
|
UTSW |
11 |
109,130,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Rgs9
|
UTSW |
11 |
109,159,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6296:Rgs9
|
UTSW |
11 |
109,159,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7325:Rgs9
|
UTSW |
11 |
109,167,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Rgs9
|
UTSW |
11 |
109,118,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7864:Rgs9
|
UTSW |
11 |
109,166,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Rgs9
|
UTSW |
11 |
109,164,150 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8885:Rgs9
|
UTSW |
11 |
109,166,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Rgs9
|
UTSW |
11 |
109,139,815 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9157:Rgs9
|
UTSW |
11 |
109,116,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Rgs9
|
UTSW |
11 |
109,130,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGTGTCTTCAGCTGGC -3'
(R):5'- CACAAATCCTTGCTTGGGTTCC -3'
Sequencing Primer
(F):5'- CTGCGTGGGCCAGAAATATG -3'
(R):5'- ATCCTTGCTTGGGTTCCATTTTTAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation