Incidental Mutation 'R4438:Rln1'
ID 329648
Institutional Source Beutler Lab
Gene Symbol Rln1
Ensembl Gene ENSMUSG00000039097
Gene Name relaxin 1
Synonyms rlx
MMRRC Submission 041703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4438 (G1)
Quality Score 224
Status Validated
Chromosome 19
Chromosomal Location 29309155-29312070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29311962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 12 (F12Y)
Ref Sequence ENSEMBL: ENSMUSP00000043376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044143]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044143
AA Change: F12Y

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: F12Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IlGF 33 185 6.34e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182039
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (52/52)
MGI Phenotype 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
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T A 2: 58,367,739 (GRCm39) I141F probably benign Het
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adck1 C T 12: 88,397,920 (GRCm39) Q185* probably null Het
Adgrb3 T C 1: 25,870,108 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,466 (GRCm39) S105P probably damaging Het
Asns C A 6: 7,675,320 (GRCm39) A561S probably benign Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Bst1 A T 5: 43,982,682 (GRCm39) probably null Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Csmd3 G A 15: 47,763,191 (GRCm39) T1215I possibly damaging Het
Csnk1e A T 15: 79,305,129 (GRCm39) S323T probably benign Het
Cyp2j7 G T 4: 96,105,646 (GRCm39) T288K probably benign Het
Dnaaf5 T A 5: 139,149,147 (GRCm39) I482N probably damaging Het
Dpy19l3 A G 7: 35,392,284 (GRCm39) I636T probably damaging Het
Enpep T G 3: 129,077,740 (GRCm39) T626P possibly damaging Het
Fgfr2 G A 7: 129,774,660 (GRCm39) R509* probably null Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpr83 T C 9: 14,776,134 (GRCm39) Y152H probably damaging Het
Hdac7 T C 15: 97,705,596 (GRCm39) E400G probably damaging Het
Hypk A T 2: 121,288,475 (GRCm39) E82V probably damaging Het
Iqub C A 6: 24,505,867 (GRCm39) A14S probably benign Het
Lias T C 5: 65,552,787 (GRCm39) M130T probably damaging Het
Lingo4 T C 3: 94,310,204 (GRCm39) S381P possibly damaging Het
Mdn1 A G 4: 32,704,635 (GRCm39) T1536A probably damaging Het
Moxd2 T A 6: 40,860,996 (GRCm39) D265V probably damaging Het
Mtbp C A 15: 55,466,611 (GRCm39) S541R probably benign Het
Or10j27 C A 1: 172,957,869 (GRCm39) C305F probably benign Het
Or2a54 T C 6: 43,093,221 (GRCm39) S182P probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pcsk9 G T 4: 106,316,156 (GRCm39) Q96K probably benign Het
Pramel14 T C 4: 143,718,192 (GRCm39) Y417C probably damaging Het
Setd1a A G 7: 127,384,903 (GRCm39) N585D possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Smarcal1 T C 1: 72,650,637 (GRCm39) probably benign Het
Snx19 G T 9: 30,339,895 (GRCm39) L344F probably benign Het
Srfbp1 T C 18: 52,621,403 (GRCm39) C155R probably benign Het
Sspo C T 6: 48,464,287 (GRCm39) R3914C probably damaging Het
Tacc2 G A 7: 130,225,271 (GRCm39) S652N probably damaging Het
Tmub1 A C 5: 24,651,068 (GRCm39) L197R probably damaging Het
Tnc T C 4: 63,926,066 (GRCm39) T905A possibly damaging Het
Tnfrsf21 G T 17: 43,398,733 (GRCm39) R613L possibly damaging Het
Ugt3a1 A T 15: 9,351,283 (GRCm39) E97D probably benign Het
Vmn2r25 A G 6: 123,816,756 (GRCm39) I275T probably benign Het
Zfp1010 T G 2: 176,956,889 (GRCm39) Q203P possibly damaging Het
Zfp568 G T 7: 29,721,721 (GRCm39) C221F probably benign Het
Zfp91 C A 19: 12,755,385 (GRCm39) E217* probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign Het
Other mutations in Rln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Rln1 APN 19 29,309,414 (GRCm39) missense possibly damaging 0.84
IGL01607:Rln1 APN 19 29,309,260 (GRCm39) missense probably benign 0.02
IGL02415:Rln1 APN 19 29,311,798 (GRCm39) missense probably damaging 0.97
R0184:Rln1 UTSW 19 29,309,336 (GRCm39) nonsense probably null
R1670:Rln1 UTSW 19 29,309,468 (GRCm39) missense possibly damaging 0.95
R1965:Rln1 UTSW 19 29,311,995 (GRCm39) start codon destroyed probably null 0.53
R4434:Rln1 UTSW 19 29,311,962 (GRCm39) missense possibly damaging 0.85
R4437:Rln1 UTSW 19 29,311,962 (GRCm39) missense possibly damaging 0.85
R5525:Rln1 UTSW 19 29,311,920 (GRCm39) missense probably benign 0.44
R6484:Rln1 UTSW 19 29,311,902 (GRCm39) missense probably benign
R6648:Rln1 UTSW 19 29,309,521 (GRCm39) missense probably benign 0.28
R7624:Rln1 UTSW 19 29,309,499 (GRCm39) missense probably damaging 0.98
R8719:Rln1 UTSW 19 29,309,281 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GTCAGCCAATGGGAAGCATG -3'
(R):5'- AGACAATACCACGCAGGCTG -3'

Sequencing Primer
(F):5'- TGAGAAGGCGCTCACCAGTG -3'
(R):5'- CACGCAGGCTGAGGGTG -3'
Posted On 2015-07-21