|Institutional Source||Beutler Lab|
|Gene Name||regulator of G-protein signalling 7 binding protein|
|Synonyms||D13Bwg1146e, R7bp, A930030I01Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4686 (G1)|
|Chromosomal Location||104945904-105054930 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 104964089 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 226 (N226I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066614 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063551]|
|Predicted Effect||probably damaging
AA Change: N226I
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: N226I
|Meta Mutation Damage Score||0.1451|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit normal behavior and brain morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rgs7bp||
(F):5'- AATGCATCTCTGTCTCCATCAG -3'
(R):5'- CTGGAGCCAAATCCTATCTGC -3'
(F):5'- TCCATCAGAGGAGGCTCACTC -3'
(R):5'- GGAGCCAAATCCTATCTGCTATTC -3'