|Institutional Source||Beutler Lab|
|Gene Name||growth hormone secretagogue receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0571 (G1)|
|Chromosomal Location||27371351-27378010 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 27372016 bp|
|Amino Acid Change||Arginine to Cysteine at position 74 (R74C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061153 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057186]|
|Predicted Effect||probably damaging
AA Change: R74C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R74C
|Meta Mutation Damage Score||0.8964|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ghsr||
(F):5'- AAGCCTGGCAACATGTGGAACG -3'
(R):5'- TGACAAGGATGACCAGCTTCACAC -3'
(F):5'- TAACGTCACGCTGGACCTG -3'
(R):5'- TTGGTGACCACCACCTTGG -3'