Incidental Mutation 'R5525:Rln1'
ID 431831
Institutional Source Beutler Lab
Gene Symbol Rln1
Ensembl Gene ENSMUSG00000039097
Gene Name relaxin 1
Synonyms rlx
MMRRC Submission 043083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5525 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 29331170-29334670 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29334520 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 26 (E26G)
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: E26G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: E26G

signal peptide 1 22 N/A INTRINSIC
IlGF 33 185 6.34e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182039
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.9%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,099,983 (GRCm38) T1501A probably benign Het
Acin1 G A 14: 54,664,391 (GRCm38) A648V possibly damaging Het
Agap1 A G 1: 89,743,773 (GRCm38) T401A possibly damaging Het
Anapc4 T G 5: 52,856,809 (GRCm38) M440R probably damaging Het
Ankrd26 A G 6: 118,527,731 (GRCm38) M739T probably benign Het
Brip1 T C 11: 86,110,447 (GRCm38) E721G possibly damaging Het
Bzw1 A G 1: 58,402,906 (GRCm38) E221G possibly damaging Het
Cenpm A C 15: 82,239,291 (GRCm38) probably null Het
Exosc1 T A 19: 41,924,018 (GRCm38) K143N probably damaging Het
Fgd5 T A 6: 92,066,247 (GRCm38) L1236Q probably damaging Het
Gemin6 T G 17: 80,227,749 (GRCm38) V46G probably damaging Het
Grm3 C T 5: 9,504,872 (GRCm38) V807I probably damaging Het
Kndc1 A G 7: 139,924,111 (GRCm38) N1110S probably benign Het
Magi1 A T 6: 93,792,373 (GRCm38) V17D possibly damaging Het
Mdn1 T G 4: 32,767,961 (GRCm38) M5298R possibly damaging Het
Nlrp9c T A 7: 26,384,501 (GRCm38) E551V probably damaging Het
Oacyl A C 18: 65,745,356 (GRCm38) I457L probably benign Het
Olfr103 C T 17: 37,336,626 (GRCm38) G202D probably damaging Het
Olfr1102 A T 2: 87,002,339 (GRCm38) E123D possibly damaging Het
Olfr494 A G 7: 108,367,999 (GRCm38) I170V probably benign Het
Rab11fip3 T C 17: 25,991,295 (GRCm38) E996G probably damaging Het
Rabep1 T A 11: 70,923,146 (GRCm38) S554T probably damaging Het
Rpf1 A G 3: 146,517,804 (GRCm38) silent Het
Sdk1 T C 5: 142,185,265 (GRCm38) V1961A possibly damaging Het
Serpinb8 A T 1: 107,607,293 (GRCm38) I365F probably damaging Het
Shank2 A G 7: 144,070,109 (GRCm38) D277G probably damaging Het
Snapc4 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 2: 26,369,526 (GRCm38) probably benign Het
Thsd7a T C 6: 12,332,007 (GRCm38) T1269A possibly damaging Het
Ttll3 A G 6: 113,412,978 (GRCm38) N776D probably benign Het
Unc80 A G 1: 66,606,614 (GRCm38) E1483G possibly damaging Het
Ush2a A G 1: 188,753,606 (GRCm38) D2971G probably benign Het
Zfp322a A G 13: 23,357,515 (GRCm38) V19A probably benign Het
Zfp462 C A 4: 55,050,281 (GRCm38) P2164T possibly 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
R0184:Rln1 UTSW 19 29,331,936 (GRCm38) nonsense probably null
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
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 2016-10-05