|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: 0.104)|
|Stock #||R4299 (G1)|
|Chromosomal Location||55369732-55384687 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 55383753 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 497 (T497A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068731 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063771] [ENSMUST00000149858]|
|PDB Structure||Solution structure of the Ras-binding domain of mouse RGS14 [SOLUTION NMR]|
AA Change: T497A
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: T497A
|Meta Mutation Damage Score||0.0633|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
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'- TGCTGTCCGTTATAGATGCAAAG -3'
(R):5'- TATGACGAGAGCCTCCTGAC -3'
(F):5'- CTGTCCGTTATAGATGCAAAGATGAG -3'
(R):5'- CTCCAGACTATCAGTATATTCCAGGG -3'