Incidental Mutation 'IGL01607:Rln1'
ID92288
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 #IGL01607
Quality Score
Status
Chromosome19
Chromosomal Location29331170-29334670 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29331860 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 173 (V173D)
Ref Sequence ENSEMBL: ENSMUSP00000043376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044143]
Predicted Effect probably benign
Transcript: ENSMUST00000044143
AA Change: V173D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: V173D

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,352,997 K556E possibly damaging Het
Adgre4 A C 17: 55,794,748 probably benign Het
Ajap1 C T 4: 153,432,279 G202S probably damaging Het
Catsperb G T 12: 101,480,726 probably benign Het
Ccdc178 T A 18: 22,067,721 D393V probably benign Het
Cfap74 A G 4: 155,418,986 T95A possibly damaging Het
Dis3l2 A G 1: 86,745,487 T67A probably benign Het
Dnaja3 T C 16: 4,693,395 F205L probably damaging Het
Dsc1 C T 18: 20,089,663 C584Y probably damaging Het
Duox2 C A 2: 122,292,319 V545L probably benign Het
Etaa1 A G 11: 17,953,637 L53P probably benign Het
Gm14184 C T 11: 99,699,664 C4Y unknown Het
Inpp4b C T 8: 82,010,663 A563V probably benign Het
Kcnc3 A G 7: 44,591,304 D140G probably damaging Het
Ly6a A T 15: 74,995,413 M85K probably benign Het
Map4k2 C T 19: 6,345,593 probably null Het
Mttp T C 3: 138,104,698 Y652C probably damaging Het
Neu1 A T 17: 34,934,716 N372I probably benign Het
Nuak2 G A 1: 132,328,140 V184I probably damaging Het
Phf11a T C 14: 59,287,501 I85V probably damaging Het
Polr2e C A 10: 80,039,633 D3Y probably damaging Het
Ralb A G 1: 119,483,549 V20A probably damaging Het
Stk38l T A 6: 146,771,654 C304S probably damaging Het
Stk38l T C 6: 146,772,227 probably benign Het
Tjp1 G T 7: 65,336,178 D288E possibly damaging Het
Trpm3 A G 19: 22,987,127 I1319V probably benign Het
Zic2 T G 14: 122,478,882 probably benign Het
Other mutations in Rln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Rln1 APN 19 29332014 missense possibly damaging 0.84
IGL02415:Rln1 APN 19 29334398 missense probably damaging 0.97
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 On2013-12-09