Incidental Mutation 'R0184:Rln1'
ID 24013
Institutional Source Beutler Lab
Gene Symbol Rln1
Ensembl Gene ENSMUSG00000039097
Gene Name relaxin 1
Synonyms rlx
MMRRC Submission 038449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0184 (G1)
Quality Score 199
Status Validated (trace)
Chromosome 19
Chromosomal Location 29331170-29334670 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 29331936 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 148 (K148*)
Ref Sequence ENSEMBL: ENSMUSP00000043376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044143]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000044143
AA Change: K148*
SMART Domains Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: K148*

signal peptide 1 22 N/A INTRINSIC
IlGF 33 185 6.34e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182039
Meta Mutation Damage Score 0.9645 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.9%
Validation Efficiency 66% (50/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C A 3: 124,419,250 (GRCm38) V131F probably damaging Het
Adam28 T C 14: 68,637,373 (GRCm38) D285G probably benign Het
Akr1c13 A G 13: 4,194,056 (GRCm38) E36G probably damaging Het
Antxr2 A G 5: 97,980,030 (GRCm38) L214S probably damaging Het
Arhgap26 T A 18: 38,617,673 (GRCm38) D46E unknown Het
Armc9 T C 1: 86,198,370 (GRCm38) L61P probably damaging Het
Bicc1 C A 10: 71,079,215 (GRCm38) R73L probably benign Het
Calm2 T C 17: 87,435,841 (GRCm38) N43S probably benign Het
Cct7 A G 6: 85,461,554 (GRCm38) D105G probably null Het
Cdk18 T C 1: 132,118,538 (GRCm38) N215D probably benign Het
Cep126 T C 9: 8,103,395 (GRCm38) T205A probably benign Het
Cfap57 A T 4: 118,599,012 (GRCm38) I495N probably damaging Het
Cyp2b9 T A 7: 26,187,007 (GRCm38) C152* probably null Het
Dab2ip G A 2: 35,718,791 (GRCm38) R579H probably damaging Het
Dnah8 T C 17: 30,683,683 (GRCm38) V905A probably benign Het
Eif4h C A 5: 134,625,375 (GRCm38) D134Y possibly damaging Het
Espl1 T A 15: 102,299,216 (GRCm38) S372T probably benign Het
Fat2 T A 11: 55,296,288 (GRCm38) H1244L probably damaging Het
Fbxo11 T A 17: 88,008,673 (GRCm38) N443I probably benign Het
Git2 G A 5: 114,739,037 (GRCm38) T128M possibly damaging Het
Gm10985 T A 3: 53,845,258 (GRCm38) Y21N probably damaging Het
Gm12790 A T 4: 101,967,614 (GRCm38) Y152* probably null Het
Heatr5a T C 12: 51,909,969 (GRCm38) D1115G probably benign Het
Hipk2 T C 6: 38,718,931 (GRCm38) N726S possibly damaging Het
Hrg T C 16: 22,953,771 (GRCm38) probably null Het
Iars T G 13: 49,722,212 (GRCm38) S792A probably benign Het
Igf1r A G 7: 68,226,193 (GRCm38) N1301S possibly damaging Het
Il22 A T 10: 118,205,606 (GRCm38) I75F probably damaging Het
Ilkap T C 1: 91,376,305 (GRCm38) probably benign Het
Ints13 A T 6: 146,555,044 (GRCm38) Y435N probably benign Het
Ints8 A C 4: 11,218,637 (GRCm38) S797A probably benign Het
Itgad T A 7: 128,189,231 (GRCm38) D405E probably benign Het
Itgam A T 7: 128,086,058 (GRCm38) I448F probably damaging Het
Klk1 C T 7: 44,228,749 (GRCm38) T41I possibly damaging Het
Mcrip1 T C 11: 120,544,884 (GRCm38) M1V probably null Het
Mdga1 A G 17: 29,852,442 (GRCm38) Y128H probably damaging Het
Mtor G T 4: 148,464,971 (GRCm38) R604L probably benign Het
Olfr1170 A T 2: 88,224,780 (GRCm38) L84* probably null Het
Olfr656 T C 7: 104,618,240 (GRCm38) V187A probably damaging Het
Pcdhb7 T A 18: 37,343,390 (GRCm38) D526E probably benign Het
Pip4k2a T C 2: 18,889,128 (GRCm38) D139G probably damaging Het
Pkp3 A C 7: 141,088,367 (GRCm38) N536T probably benign Het
Pla2g4c T A 7: 13,356,220 (GRCm38) S524T probably benign Het
Pno1 T C 11: 17,211,127 (GRCm38) E69G probably benign Het
Pold1 C T 7: 44,541,715 (GRCm38) V231M probably benign Het
Poli A G 18: 70,522,731 (GRCm38) S248P probably damaging Het
Ppox C T 1: 171,279,552 (GRCm38) S138N probably damaging Het
Psg20 T C 7: 18,685,976 (GRCm38) E6G probably null Het
Rbmx C T X: 57,391,566 (GRCm38) probably null Het
Rnf213 C T 11: 119,414,521 (GRCm38) T526I probably damaging Het
Rps6kc1 A T 1: 190,799,093 (GRCm38) V904E probably null Het
Sf3b2 T A 19: 5,283,672 (GRCm38) I633F probably damaging Het
Sfswap T A 5: 129,507,189 (GRCm38) I189N probably damaging Het
Smarca2 T A 19: 26,692,249 (GRCm38) Y973* probably null Het
Spink5 G A 18: 44,003,198 (GRCm38) D559N probably benign Het
Spty2d1 C T 7: 46,997,574 (GRCm38) V536I possibly damaging Het
Tbx3 T C 5: 119,675,562 (GRCm38) I221T probably damaging Het
Tcf20 T A 15: 82,852,300 (GRCm38) D1650V probably damaging Het
Thsd7b A G 1: 129,430,964 (GRCm38) K45R probably benign Het
Tirap A G 9: 35,189,194 (GRCm38) S65P probably benign Het
Trim25 C T 11: 88,999,640 (GRCm38) P51L probably damaging Het
Trim61 T C 8: 65,014,417 (GRCm38) N64S probably benign Het
Twf1 T A 15: 94,581,067 (GRCm38) probably null Het
Ubr4 A C 4: 139,445,262 (GRCm38) T1692P probably damaging Het
Usp3 A G 9: 66,562,581 (GRCm38) M86T probably damaging Het
Utrn T C 10: 12,667,618 (GRCm38) D1762G probably benign Het
V1rd19 T A 7: 24,003,207 (GRCm38) F33I probably benign Het
Vmn2r52 T C 7: 10,159,338 (GRCm38) S625G probably damaging Het
Vmn2r90 G A 17: 17,726,877 (GRCm38) W472* probably null Het
Vrk2 C A 11: 26,550,046 (GRCm38) A56S probably damaging Het
Yeats2 C T 16: 20,203,685 (GRCm38) P620S possibly damaging Het
Zbtb21 C T 16: 97,950,513 (GRCm38) D171N probably damaging Het
Zeb1 A T 18: 5,766,808 (GRCm38) I440F probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm38) I253T probably damaging Het
Other mutations in Rln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Rln1 APN 19 29,332,014 (GRCm38) missense possibly damaging 0.84
IGL01607:Rln1 APN 19 29,331,860 (GRCm38) missense probably benign 0.02
IGL02415:Rln1 APN 19 29,334,398 (GRCm38) missense probably damaging 0.97
R1670:Rln1 UTSW 19 29,332,068 (GRCm38) missense possibly damaging 0.95
R1965:Rln1 UTSW 19 29,334,595 (GRCm38) start codon destroyed probably null 0.53
R4434:Rln1 UTSW 19 29,334,562 (GRCm38) missense possibly damaging 0.85
R4437:Rln1 UTSW 19 29,334,562 (GRCm38) missense possibly damaging 0.85
R4438:Rln1 UTSW 19 29,334,562 (GRCm38) missense possibly damaging 0.85
R5525:Rln1 UTSW 19 29,334,520 (GRCm38) missense probably benign 0.44
R6484:Rln1 UTSW 19 29,334,502 (GRCm38) missense probably benign
R6648:Rln1 UTSW 19 29,332,121 (GRCm38) missense probably benign 0.28
R7624:Rln1 UTSW 19 29,332,099 (GRCm38) missense probably damaging 0.98
R8719:Rln1 UTSW 19 29,331,881 (GRCm38) missense probably benign 0.08
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-16