Incidental Mutation 'R1368:Rgs9'
ID |
155891 |
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 |
039433-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
109116181-109188955 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 109138977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 255
(S255L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102317
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020920]
[ENSMUST00000103062]
[ENSMUST00000106706]
|
AlphaFold |
O54828 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020920
AA Change: S255L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000020920 Gene: ENSMUSG00000020599 AA Change: S255L
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: ENSMUST00000103062
AA Change: S29L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099351 Gene: ENSMUSG00000020599 AA Change: S29L
Domain | Start | End | E-Value | Type |
G_gamma
|
1 |
54 |
2.27e-6 |
SMART |
GGL
|
1 |
54 |
1.86e-15 |
SMART |
RGS
|
73 |
188 |
4.47e-48 |
SMART |
low complexity region
|
260 |
278 |
N/A |
INTRINSIC |
low complexity region
|
336 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106706
AA Change: S255L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000102317 Gene: ENSMUSG00000020599 AA Change: S255L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156785
|
Meta Mutation Damage Score |
0.0712 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (55/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,241,836 (GRCm39) |
D1233G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,772,284 (GRCm39) |
R832W |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,092,981 (GRCm39) |
T439A |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,693,796 (GRCm39) |
S1966I |
probably damaging |
Het |
C130073F10Rik |
T |
A |
4: 101,747,953 (GRCm39) |
N74Y |
possibly damaging |
Het |
Cct8 |
G |
A |
16: 87,288,200 (GRCm39) |
S124L |
probably damaging |
Het |
Cdh9 |
T |
A |
15: 16,848,568 (GRCm39) |
|
probably benign |
Het |
Cep290 |
C |
T |
10: 100,330,828 (GRCm39) |
|
probably benign |
Het |
Chrng |
T |
A |
1: 87,133,575 (GRCm39) |
L10H |
probably damaging |
Het |
Cnn3 |
T |
C |
3: 121,250,786 (GRCm39) |
L189S |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,585,157 (GRCm39) |
|
probably benign |
Het |
Cxcl12 |
A |
G |
6: 117,153,111 (GRCm39) |
|
probably benign |
Het |
Eif2b2 |
G |
A |
12: 85,270,230 (GRCm39) |
A257T |
probably damaging |
Het |
Entrep2 |
A |
T |
7: 64,469,625 (GRCm39) |
V41E |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,858,903 (GRCm39) |
Q2341R |
possibly damaging |
Het |
Fktn |
G |
A |
4: 53,734,880 (GRCm39) |
G173R |
probably damaging |
Het |
Gabbr2 |
T |
C |
4: 46,674,464 (GRCm39) |
N841S |
probably benign |
Het |
Gm5622 |
T |
A |
14: 51,899,647 (GRCm39) |
V167E |
possibly damaging |
Het |
Gnaq |
T |
C |
19: 16,355,651 (GRCm39) |
V289A |
probably benign |
Het |
Gpatch2l |
T |
G |
12: 86,307,439 (GRCm39) |
D272E |
possibly damaging |
Het |
Gzmg |
G |
A |
14: 56,395,263 (GRCm39) |
T74I |
probably benign |
Het |
Ikzf2 |
G |
A |
1: 69,578,474 (GRCm39) |
A271V |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,176 (GRCm39) |
D868G |
possibly damaging |
Het |
Mfsd6 |
T |
C |
1: 52,747,764 (GRCm39) |
E367G |
possibly damaging |
Het |
Mpz |
T |
C |
1: 170,987,533 (GRCm39) |
L223P |
probably damaging |
Het |
Muc17 |
T |
C |
5: 137,175,674 (GRCm39) |
|
probably benign |
Het |
Or2f1b |
C |
A |
6: 42,739,613 (GRCm39) |
T209K |
possibly damaging |
Het |
Pdcd2 |
G |
T |
17: 15,746,846 (GRCm39) |
N104K |
probably damaging |
Het |
Pigg |
G |
T |
5: 108,465,154 (GRCm39) |
G129V |
probably damaging |
Het |
Ppp3cc |
T |
C |
14: 70,483,311 (GRCm39) |
Y254C |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Psg23 |
A |
G |
7: 18,348,645 (GRCm39) |
V54A |
probably benign |
Het |
Psmd3 |
A |
G |
11: 98,573,746 (GRCm39) |
D64G |
probably damaging |
Het |
Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
Ptgdr |
T |
A |
14: 45,090,799 (GRCm39) |
I320F |
probably damaging |
Het |
Rad50 |
T |
A |
11: 53,574,072 (GRCm39) |
K722* |
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Ror1 |
C |
T |
4: 100,298,334 (GRCm39) |
P569L |
possibly damaging |
Het |
Rsad2 |
T |
C |
12: 26,497,147 (GRCm39) |
|
probably null |
Het |
Scn8a |
A |
G |
15: 100,933,422 (GRCm39) |
D1501G |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,883,330 (GRCm39) |
T313A |
possibly damaging |
Het |
Serpinc1 |
T |
A |
1: 160,821,094 (GRCm39) |
F59L |
probably damaging |
Het |
Sike1 |
A |
G |
3: 102,903,500 (GRCm39) |
D63G |
possibly damaging |
Het |
Slc25a11 |
T |
A |
11: 70,536,352 (GRCm39) |
|
probably null |
Het |
Slc32a1 |
A |
G |
2: 158,453,240 (GRCm39) |
M27V |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,187,807 (GRCm39) |
V1003A |
probably damaging |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,577,315 (GRCm39) |
E75G |
possibly damaging |
Het |
Tspan3 |
A |
T |
9: 56,054,783 (GRCm39) |
V48E |
probably benign |
Het |
Ugt1a6b |
T |
C |
1: 88,035,358 (GRCm39) |
I232T |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,122,772 (GRCm39) |
K2290E |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,656 (GRCm39) |
F70L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACCCACACACCTGGTCTCAAT -3'
(R):5'- GCACTGAAGTTCCCAAACATAGGCA -3'
Sequencing Primer
(F):5'- CCTGGTCTCAATCATACACACG -3'
(R):5'- GTTCATCTGTGACAATTGCAGC -3'
|
Posted On |
2014-02-11 |