Incidental Mutation 'R6648:Rln1'
ID 524412
Institutional Source Beutler Lab
Gene Symbol Rln1
Ensembl Gene ENSMUSG00000039097
Gene Name relaxin 1
Synonyms rlx
MMRRC Submission 044769-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6648 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 29309155-29312070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 29309521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 86 (T86K)
Ref Sequence ENSEMBL: ENSMUSP00000043376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044143]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044143
AA Change: T86K

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: T86K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,490 (GRCm39) Y511H probably damaging Het
Arhgef38 A T 3: 132,838,236 (GRCm39) I600N probably damaging Het
Cacna1g A T 11: 94,323,395 (GRCm39) C1270S probably damaging Het
Ccar2 T G 14: 70,376,674 (GRCm39) D890A probably benign Het
Cep76 A T 18: 67,752,804 (GRCm39) V548D probably benign Het
Chat T G 14: 32,176,651 (GRCm39) Q41P probably benign Het
Ddx24 T A 12: 103,374,634 (GRCm39) N850I probably benign Het
Dst A G 1: 34,301,122 (GRCm39) I5879V possibly damaging Het
Ece1 A G 4: 137,648,470 (GRCm39) T92A probably benign Het
Ecrg4 T A 1: 43,777,851 (GRCm39) F87I probably damaging Het
Fpgs G T 2: 32,574,799 (GRCm39) C439* probably null Het
H2-Q4 A T 17: 35,601,981 (GRCm39) E281V probably damaging Het
Hydin A G 8: 111,252,299 (GRCm39) probably null Het
Iqgap2 T C 13: 95,818,719 (GRCm39) E679G probably benign Het
Kif12 A T 4: 63,089,554 (GRCm39) probably null Het
Kif21b T C 1: 136,080,135 (GRCm39) V557A probably benign Het
Mki67 C G 7: 135,299,169 (GRCm39) S1955T probably damaging Het
Mybpc1 G A 10: 88,358,861 (GRCm39) T1110M probably damaging Het
Myh9 T C 15: 77,650,972 (GRCm39) H1625R probably benign Het
Nbeal2 G A 9: 110,466,710 (GRCm39) T704M probably damaging Het
Or1ad6 G A 11: 50,860,000 (GRCm39) D52N probably damaging Het
Or5a21 A T 19: 12,311,130 (GRCm39) M30K probably benign Het
Osbpl9 C A 4: 108,948,876 (GRCm39) Q91H possibly damaging Het
Pcsk5 A T 19: 17,553,185 (GRCm39) L665Q probably damaging Het
Pgm5 T C 19: 24,838,996 (GRCm39) D53G probably benign Het
Plcd4 A G 1: 74,591,172 (GRCm39) D189G probably benign Het
Plxnb1 A T 9: 108,933,398 (GRCm39) Q676L probably benign Het
Prss33 A G 17: 24,053,676 (GRCm39) S134P probably benign Het
Rnf213 G A 11: 119,370,746 (GRCm39) A4785T possibly damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3tc2 T C 18: 62,148,111 (GRCm39) C1274R probably benign Het
Slc35a5 A T 16: 44,964,280 (GRCm39) F318I probably damaging Het
Slc41a3 T C 6: 90,596,490 (GRCm39) F20L probably damaging Het
Socs4 T A 14: 47,527,633 (GRCm39) N189K probably benign Het
Tiam2 A T 17: 3,557,148 (GRCm39) E1196V probably damaging Het
Tmc3 T A 7: 83,246,751 (GRCm39) V164D probably damaging Het
Trim46 T C 3: 89,142,549 (GRCm39) E623G possibly damaging Het
Ubr4 C A 4: 139,180,030 (GRCm39) C3403* probably null Het
Vmn1r194 A T 13: 22,428,694 (GRCm39) T104S probably benign Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Zfp1002 T C 2: 150,097,097 (GRCm39) I111V probably benign Het
Zmynd11 T G 13: 9,763,057 (GRCm39) S95R probably benign Het
Zswim4 C A 8: 84,957,543 (GRCm39) R175L 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
R4438: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
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'- ATTTAAGCCCTGGAGGACTGC -3'
(R):5'- AGTCTGAACTGCCTAGCCAG -3'

Sequencing Primer
(F):5'- AGGACTGCCGTCTTCTGC -3'
(R):5'- ACCACTGAGATTTTCAATACTCTCTG -3'
Posted On 2018-06-22