|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 #||R0257 (G1)|
|Chromosomal Location||79641611-79737880 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 79682535 bp|
|Amino Acid Change||Valine to Methionine at position 100 (V100M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077611 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078527] [ENSMUST00000182491]|
|Predicted Effect||possibly damaging
AA Change: V100M
PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: V100M
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1950|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
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'- AACGCATTCTTAGTGATGACCCAGG -3'
(R):5'- CCCACCCATACGTTAGTCAGCATTC -3'
(F):5'- GACGAGCCAATCTTTGCTAC -3'
(R):5'- ggactcacagacacacacac -3'