Incidental Mutation 'IGL02415:Rln1'
ID292411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rln1
Ensembl Gene ENSMUSG00000039097
Gene Namerelaxin 1
Synonymsrlx
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02415
Quality Score
Status
Chromosome19
Chromosomal Location29331170-29334670 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29334398 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 67 (R67G)
Ref Sequence ENSEMBL: ENSMUSP00000043376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044143]
Predicted Effect probably damaging
Transcript: ENSMUST00000044143
AA Change: R67G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: R67G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IlGF 33 185 6.34e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182039
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
E2f5 T A 3: 14,603,897 V283E probably benign Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Fam102b A G 3: 108,980,292 Y219H probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Med12 T C X: 101,281,790 V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Shcbp1 C T 8: 4,754,239 V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Stx6 A G 1: 155,193,313 E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 D90E possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly damaging Het
Other mutations in Rln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Rln1 APN 19 29332014 missense possibly damaging 0.84
IGL01607:Rln1 APN 19 29331860 missense probably benign 0.02
R0184:Rln1 UTSW 19 29331936 nonsense probably null
R1670:Rln1 UTSW 19 29332068 missense possibly damaging 0.95
R1965:Rln1 UTSW 19 29334595 start codon destroyed probably null 0.53
R4434:Rln1 UTSW 19 29334562 missense possibly damaging 0.85
R4437:Rln1 UTSW 19 29334562 missense possibly damaging 0.85
R4438:Rln1 UTSW 19 29334562 missense possibly damaging 0.85
R5525:Rln1 UTSW 19 29334520 missense probably benign 0.44
R6484:Rln1 UTSW 19 29334502 missense probably benign
R6648:Rln1 UTSW 19 29332121 missense probably benign 0.28
R7624:Rln1 UTSW 19 29332099 missense probably damaging 0.98
Posted On2015-04-16