|Institutional Source||Beutler Lab|
|Gene Name||regulator of G-protein signaling 18|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R2115 (G1)|
|Chromosomal Location||144752683-144775435 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 144753891 bp|
|Amino Acid Change||Threonine to Lysine at position 210 (T210K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027603 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027603]|
|Predicted Effect||possibly damaging
AA Change: T210K
PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: T210K
|Meta Mutation Damage Score||0.118|
|Coding Region Coverage||
|Validation Efficiency||98% (95/97)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show reduced thermal nociception threshold, increased startle reflex, thrombocytopenia, defective megakaryopoiesis, and increased platelet aggregation. Homozygotes for a different null allele show decreased bleeding time, increased platelet aggregation, and thrombosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rgs18||
(F):5'- GGGTCATTTCTATAAGCCTCAATC -3'
(R):5'- GCCCTAGGAGAAAATACCCAGG -3'
(F):5'- TTACAAAGCTTCTTCTTACTGACTG -3'
(R):5'- ACCCTTCAACATTTTAAGAGTATGAG -3'