|Institutional Source||Beutler Lab|
|Gene Name||regulator of G-protein signaling 14|
|Synonyms||Rap1/rap2 interacting protein|
|Is this an essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R8021 (G1)|
|Chromosomal Location||55369732-55384687 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 55383756 bp|
|Amino Acid Change||Cysteine to Arginine at position 498 (C498R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068731 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063771] [ENSMUST00000149858]|
|Predicted Effect||probably damaging
AA Change: C498R
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: C498R
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
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 contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases 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: Homozygous mutation of this gene with one allele results in failure to complete the first zygotic cell division. Homozygous mutation of this gene with a second allele results in no obvious phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rgs14||
(F):5'- GTCAAACTCAACAGTGGTGC -3'
(R):5'- TTCTGCTGCCTGCTATGACG -3'
(F):5'- GCTGTCCGTTATAGATGCAAAG -3'
(R):5'- TATGACGAGAGCCTCCTGACTC -3'