|Institutional Source||Beutler Lab|
|Gene Name||relaxin 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1670 (G1)|
|Chromosomal Location||29331170-29334670 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 29332068 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 104 (E104K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043376 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044143]|
|Predicted Effect||possibly damaging
AA Change: E104K
PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: E104K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5549|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]
PHENOTYPE: Inactivation of this locus is compatible with fertility but not normal mammary gland development. Postpartum, homozygous mutant females exhibit slight nipples that are insufficient for suckling. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rln1||
(F):5'- TTCTGCTACAACCGACGTGGCAAC -3'
(R):5'- GTCTGAACTGCCTAGCCAGCAAAAC -3'
(F):5'- GGCAACATTGCTGGCTCATC -3'
(R):5'- ATCCAGGCAAAATGCTTTTCTC -3'