Incidental Mutation 'R5449:Rgs9'
| ID |
429236 |
| 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 |
043014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
109116181-109188955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109116570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 411
(D411G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020920]
[ENSMUST00000103062]
|
| AlphaFold |
O54828 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020920
AA Change: D637G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599
AA Change: D637G
| 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: D411G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099351
Gene: ENSMUSG00000020599
AA Change: D411G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,123,579 (GRCm39) |
I98F |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,537 (GRCm39) |
K197E |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,251,737 (GRCm39) |
|
probably null |
Het |
| Atad5 |
A |
G |
11: 80,014,934 (GRCm39) |
I1337V |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,662,891 (GRCm39) |
T550A |
probably damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,194,888 (GRCm39) |
L952V |
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,069,762 (GRCm39) |
|
probably null |
Het |
| Cfl1 |
A |
G |
19: 5,543,521 (GRCm39) |
*167W |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,798 (GRCm39) |
D734G |
unknown |
Het |
| Cry1 |
G |
A |
10: 84,968,999 (GRCm39) |
L581F |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,824,916 (GRCm39) |
D406G |
probably benign |
Het |
| Faah |
T |
C |
4: 115,856,692 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,926,731 (GRCm39) |
F607S |
probably damaging |
Het |
| Fga |
CAAAG |
CAAAGAAAG |
3: 82,938,169 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
G |
A |
11: 102,086,923 (GRCm39) |
Q46* |
probably null |
Het |
| Hltf |
A |
G |
3: 20,123,247 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ilvbl |
G |
A |
10: 78,412,862 (GRCm39) |
|
probably null |
Het |
| Ldhc |
T |
C |
7: 46,519,082 (GRCm39) |
S102P |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,167,127 (GRCm39) |
V1529A |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,254 (GRCm39) |
I202V |
probably benign |
Het |
| Nscme3l |
G |
A |
19: 5,553,292 (GRCm39) |
T163M |
probably benign |
Het |
| Pdc |
A |
C |
1: 150,209,190 (GRCm39) |
L224F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,956,344 (GRCm39) |
V764A |
possibly damaging |
Het |
| Plxna1 |
T |
C |
6: 89,300,590 (GRCm39) |
D1578G |
probably damaging |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Ptrh1 |
A |
G |
2: 32,666,358 (GRCm39) |
S37G |
probably damaging |
Het |
| Riok3 |
A |
T |
18: 12,288,303 (GRCm39) |
E493D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,902 (GRCm39) |
M570T |
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,488,154 (GRCm39) |
D187G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,151,346 (GRCm39) |
I819F |
probably damaging |
Het |
| Slc7a5 |
C |
A |
8: 122,613,087 (GRCm39) |
W330C |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,187,434 (GRCm39) |
F230Y |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tro |
T |
C |
X: 149,428,966 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,793,981 (GRCm39) |
M68L |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,074 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,343 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,001,101 (GRCm39) |
S58P |
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 |
|
|
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'- ATCCTAATGCACTTGGGCAC -3'
(R):5'- ATCATGTGGGCGTGATTACC -3'
Sequencing Primer
(F):5'- CTAATGCACTTGGGCACTTGGG -3'
(R):5'- TGGGCGTGATTACCTGCCATC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation