Incidental Mutation 'IGL03170:Rgs9'
ID |
411804 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rgs9
|
Ensembl Gene |
ENSMUSG00000020599 |
Gene Name |
regulator of G-protein signaling 9 |
Synonyms |
RGS9-1, Rgs9-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03170
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
109116181-109188955 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 109150681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 209
(T209I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102317
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020920]
[ENSMUST00000106704]
[ENSMUST00000106706]
|
AlphaFold |
O54828 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020920
AA Change: T209I
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000020920 Gene: ENSMUSG00000020599 AA Change: T209I
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
AA Change: T209I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000102315 Gene: ENSMUSG00000020599 AA Change: T209I
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
AA Change: T209I
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000102317 Gene: ENSMUSG00000020599 AA Change: T209I
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 |
|
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 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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cand2 |
A |
G |
6: 115,774,861 (GRCm39) |
D1023G |
probably damaging |
Het |
Ccn1 |
C |
A |
3: 145,355,514 (GRCm39) |
A12S |
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,060,809 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
C |
T |
17: 32,844,093 (GRCm39) |
|
probably benign |
Het |
Entpd2 |
T |
C |
2: 25,289,493 (GRCm39) |
F325S |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,818,261 (GRCm38) |
I37T |
possibly damaging |
Het |
Gtpbp10 |
A |
G |
5: 5,605,355 (GRCm39) |
V116A |
probably benign |
Het |
H2-T9 |
C |
T |
17: 36,439,605 (GRCm39) |
G125E |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,587,456 (GRCm39) |
N164I |
unknown |
Het |
Nle1 |
T |
A |
11: 82,795,096 (GRCm39) |
T312S |
probably benign |
Het |
Or10ab5 |
T |
C |
7: 108,245,307 (GRCm39) |
I159V |
probably benign |
Het |
Pim1 |
T |
A |
17: 29,710,152 (GRCm39) |
L12Q |
possibly damaging |
Het |
Plb1 |
G |
T |
5: 32,442,246 (GRCm39) |
C246F |
probably damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,557,033 (GRCm39) |
|
probably benign |
Het |
Prl6a1 |
T |
A |
13: 27,499,406 (GRCm39) |
V63D |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 22,959,766 (GRCm39) |
A88T |
probably benign |
Het |
Ranbp3l |
A |
T |
15: 9,029,611 (GRCm39) |
E31V |
probably damaging |
Het |
Relch |
C |
T |
1: 105,663,680 (GRCm39) |
T943I |
probably damaging |
Het |
Smg8 |
A |
G |
11: 86,977,434 (GRCm39) |
V49A |
probably damaging |
Het |
Smim6 |
A |
T |
11: 115,804,314 (GRCm39) |
T34S |
possibly damaging |
Het |
Snw1 |
T |
G |
12: 87,519,022 (GRCm39) |
T4P |
probably benign |
Het |
Sod2 |
C |
A |
17: 13,227,257 (GRCm39) |
H70Q |
probably benign |
Het |
Tro |
A |
G |
X: 149,438,556 (GRCm39) |
S34P |
probably benign |
Het |
Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,202,342 (GRCm39) |
V1085G |
probably damaging |
Het |
Vmn1r21 |
A |
G |
6: 57,820,847 (GRCm39) |
V199A |
probably damaging |
Het |
Xkr9 |
T |
C |
1: 13,771,036 (GRCm39) |
I184T |
possibly damaging |
Het |
Zfp369 |
T |
C |
13: 65,442,224 (GRCm39) |
S273P |
probably damaging |
Het |
Zpld2 |
C |
T |
4: 133,920,345 (GRCm39) |
V607I |
possibly 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 |
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 |
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 |
|
Posted On |
2016-08-02 |