|Institutional Source||Beutler Lab|
|Gene Name||adhesion G protein-coupled receptor A1|
|Synonyms||Gpr123, D7Ertd680e, 2900059M17Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.159)|
|Stock #||R3411 (G1)|
|Chromosomal Location||139834174-139878088 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 139847703 bp|
|Amino Acid Change||Phenylalanine to Serine at position 62 (F62S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026548 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026548]|
|Predicted Effect||possibly damaging
AA Change: F62S
PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: F62S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4471|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adgra1||
(F):5'- ATGGTCTGCTCCTTCGGATG -3'
(R):5'- GTCACTATAGAAGCCTCAGTCTC -3'
(F):5'- GCTCCTTCGGATGGGTTCC -3'
(R):5'- TATAGAAGCCTCAGTCTCCCCGG -3'