Incidental Mutation 'R7864:Rgs9'
| ID |
607730 |
| 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 |
045917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109116181-109188955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109166446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 108
(F108Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020920]
[ENSMUST00000106704]
[ENSMUST00000106706]
|
| AlphaFold |
O54828 |
| PDB Structure |
The multifunctional nature of Gbeta5/RGS9 revealed from its crystal structure [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020920
AA Change: F108Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599
AA Change: F108Y
| 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 damaging
Transcript: ENSMUST00000106704
AA Change: F108Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102315
Gene: ENSMUSG00000020599
AA Change: F108Y
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
30 |
105 |
2.2e-16 |
SMART |
|
Blast:G_gamma
|
154 |
229 |
4e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106706
AA Change: F108Y
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102317
Gene: ENSMUSG00000020599
AA Change: F108Y
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (48/48) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,034,796 (GRCm39) |
R41W |
probably benign |
Het |
| Adam32 |
T |
A |
8: 25,412,292 (GRCm39) |
H88L |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,577,976 (GRCm39) |
T238A |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,392,530 (GRCm39) |
L1967P |
probably damaging |
Het |
| Bbx |
G |
T |
16: 50,082,797 (GRCm39) |
H216Q |
probably damaging |
Het |
| C030005K15Rik |
G |
A |
10: 97,561,614 (GRCm39) |
T39M |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,602,246 (GRCm39) |
V655A |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,414,906 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ces1f |
G |
A |
8: 94,000,769 (GRCm39) |
A125V |
possibly damaging |
Het |
| Chaf1a |
C |
T |
17: 56,354,339 (GRCm39) |
T203I |
unknown |
Het |
| Cntn5 |
A |
G |
9: 9,984,182 (GRCm39) |
S144P |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,631,394 (GRCm39) |
Y436F |
probably damaging |
Het |
| Dbf4 |
A |
T |
5: 8,460,010 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,140,864 (GRCm39) |
D1360V |
possibly damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,689 (GRCm39) |
I515N |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,548,073 (GRCm39) |
C75* |
probably null |
Het |
| Foxa1 |
A |
T |
12: 57,589,533 (GRCm39) |
V229D |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,772,444 (GRCm39) |
M248T |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,619 (GRCm39) |
Q573R |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,312,290 (GRCm39) |
H1510P |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,747,157 (GRCm39) |
I45S |
probably damaging |
Het |
| Itsn1 |
T |
C |
16: 91,598,454 (GRCm39) |
V129A |
possibly damaging |
Het |
| Klrg2 |
G |
T |
6: 38,605,024 (GRCm39) |
Q347K |
possibly damaging |
Het |
| Lama2 |
G |
A |
10: 26,932,611 (GRCm39) |
T1996I |
probably benign |
Het |
| Man1a |
C |
A |
10: 53,906,843 (GRCm39) |
L219F |
possibly damaging |
Het |
| Mcub |
A |
G |
3: 129,712,272 (GRCm39) |
I201T |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,726,710 (GRCm39) |
D80G |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,705,428 (GRCm39) |
L633P |
probably damaging |
Het |
| Pate9 |
A |
T |
9: 36,445,747 (GRCm39) |
F68Y |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,497,762 (GRCm39) |
L429* |
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,389,449 (GRCm39) |
|
probably null |
Het |
| Pld4 |
C |
A |
12: 112,731,557 (GRCm39) |
Q237K |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,357 (GRCm39) |
E897G |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,169,656 (GRCm39) |
F475L |
probably benign |
Het |
| Popdc3 |
G |
A |
10: 45,191,278 (GRCm39) |
A130T |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,286,297 (GRCm39) |
K259E |
probably benign |
Het |
| Psg23 |
T |
G |
7: 18,344,435 (GRCm39) |
N340T |
possibly damaging |
Het |
| Rab1a |
G |
T |
11: 20,165,673 (GRCm39) |
G23* |
probably null |
Het |
| Scn9a |
T |
A |
2: 66,314,904 (GRCm39) |
T1605S |
possibly damaging |
Het |
| Sh2d4b |
G |
A |
14: 40,562,208 (GRCm39) |
T319I |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,726,217 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
A |
T |
17: 27,189,502 (GRCm39) |
Q1286L |
|
Het |
| Tmem132d |
G |
A |
5: 127,860,980 (GRCm39) |
T1047I |
probably damaging |
Het |
| Togaram2 |
G |
A |
17: 72,007,935 (GRCm39) |
R420H |
probably damaging |
Het |
| Uimc1 |
G |
A |
13: 55,241,080 (GRCm39) |
R3* |
probably null |
Het |
| Vmn2r7 |
C |
T |
3: 64,598,947 (GRCm39) |
V537I |
probably benign |
Het |
| Wwp1 |
T |
A |
4: 19,635,328 (GRCm39) |
K584N |
probably damaging |
Het |
| Zc3h12d |
A |
T |
10: 7,715,723 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,769,569 (GRCm39) |
V220E |
probably benign |
Het |
| Zfp91 |
A |
G |
19: 12,748,403 (GRCm39) |
V391A |
probably damaging |
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 |
|
R3932:Rgs9
|
UTSW |
11 |
109,166,639 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- TACCTCCAATACAGATGTGAGC -3'
(R):5'- ATCTCATCCTCAAGCCGGAC -3'
Sequencing Primer
(F):5'- CTCCAATACAGATGTGAGCTGACG -3'
(R):5'- GGACAGCAGTCTCTACCGATTTCAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation