|Institutional Source||Beutler Lab|
|Gene Name||relaxin/insulin-like family peptide receptor 1|
|Is this an essential gene?||Probably non essential (E-score: 0.219)|
|Stock #||R0230 (G1)|
|Chromosomal Location||79641611-79737880 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79644975 bp|
|Amino Acid Change||Asparagine to Serine at position 673 (N673S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077611 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078527] [ENSMUST00000182491]|
|Predicted Effect||probably damaging
AA Change: N673S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N673S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6755|
|Coding Region Coverage||
|Validation Efficiency||100% (83/83)|
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'- ATGAACCCAGAGGACATCTCCTGC -3'
(R):5'- AAAGCCTCCAGAGCACTGGCATTC -3'
(F):5'- CTGCAAGGGCCACATTTC -3'
(R):5'- GAGCACTGGCATTCCTTTAAAC -3'