|Institutional Source||Beutler Lab|
|Gene Name||regulator of G-protein signaling 9|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2422 (G1)|
|Chromosomal Location||109225355-109298129 bp(-) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||C to A at 109225777 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000099351 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020920] [ENSMUST00000103062]|
|Meta Mutation Damage Score||0.9501|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
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||
|Other mutations in Rgs9||
(F):5'- TAATGCACTTGGGCACTTGGG -3'
(R):5'- CAATGTCTGTGGCATGCTGG -3'
(F):5'- ACGTCTGATGGCGTCTGC -3'
(R):5'- CTGTGGCATGCTGGTCCTTG -3'