|Institutional Source||Beutler Lab|
|Gene Name||relaxin/insulin-like family peptide receptor 1|
|Essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R5856 (G1)|
|Chromosomal Location||79641611-79737880 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 79663313 bp (GRCm38)|
|Amino Acid Change||Asparagine to Tyrosine at position 271 (N271Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077611 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078527] [ENSMUST00000182491]|
AA Change: N271Y
PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: N271Y
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility, particularly at younger ages and early generations. Impaired nipple development prevents nursing by females. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rxfp1||
(F):5'- ATAGACACCTACCGGGAGAAACC -3'
(R):5'- AACTATTGCTACAGATGACAGGCA -3'
(F):5'- GATCACTATGTAGATCAGGCTAGCC -3'
(R):5'- TGCTACAGATGACAGGCAATAATAC -3'