Incidental Mutation 'IGL03079:Rxfp3'
ID 417803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rxfp3
Ensembl Gene ENSMUSG00000060735
Gene Name relaxin family peptide receptor 3
Synonyms Rln3r1, Salpr
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03079
Quality Score
Status
Chromosome 15
Chromosomal Location 11033803-11038054 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 11036909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 154 (M154I)
Ref Sequence ENSEMBL: ENSMUSP00000062741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058007]
AlphaFold Q8BGE9
Predicted Effect possibly damaging
Transcript: ENSMUST00000058007
AA Change: M154I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062741
Gene: ENSMUSG00000060735
AA Change: M154I

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 59 71 N/A INTRINSIC
Pfam:7tm_1 98 392 1.7e-48 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display a subtle decrease in anxiety related behaviors and hypoactivity in their home cages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx1 T A 10: 102,845,209 (GRCm39) H274L probably damaging Het
Arl6ip4 A T 5: 124,254,990 (GRCm39) H59L possibly damaging Het
C1ra A G 6: 124,496,794 (GRCm39) Y410C probably damaging Het
Ceacam11 A G 7: 17,712,361 (GRCm39) N270S probably benign Het
Cmtr1 T A 17: 29,882,267 (GRCm39) N39K possibly damaging Het
Cmya5 T C 13: 93,234,209 (GRCm39) D293G possibly damaging Het
Cyp2d11 T C 15: 82,275,167 (GRCm39) E260G probably damaging Het
Dnajc13 C T 9: 104,090,068 (GRCm39) W700* probably null Het
Efemp2 G T 19: 5,525,155 (GRCm39) L20F probably damaging Het
Hars1 G A 18: 36,903,556 (GRCm39) L289F probably damaging Het
Hdlbp A G 1: 93,341,662 (GRCm39) probably benign Het
Iqgap3 A T 3: 88,020,477 (GRCm39) M374L probably benign Het
Lrig2 A T 3: 104,398,287 (GRCm39) W281R probably damaging Het
Lyg2 C T 1: 37,946,727 (GRCm39) E185K possibly damaging Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Marchf11 T C 15: 26,311,144 (GRCm39) S207P probably damaging Het
Nipa2 A T 7: 55,583,205 (GRCm39) V180E probably damaging Het
Or4k6 A T 14: 50,475,581 (GRCm39) C254S possibly damaging Het
P2rx5 A G 11: 73,055,714 (GRCm39) D57G possibly damaging Het
Pxdn T C 12: 30,052,997 (GRCm39) I1058T probably damaging Het
Slc3a1 T A 17: 85,367,251 (GRCm39) Y479* probably null Het
Tamalin T C 15: 101,128,448 (GRCm39) V162A probably damaging Het
Tecrl G A 5: 83,442,447 (GRCm39) H209Y probably damaging Het
Ttll5 T C 12: 85,923,332 (GRCm39) Y270H probably damaging Het
Usp34 A G 11: 23,382,247 (GRCm39) E1986G possibly damaging Het
Zfp719 A G 7: 43,240,590 (GRCm39) Y726C probably damaging Het
Zfp810 T C 9: 22,195,423 (GRCm39) E7G probably damaging Het
Other mutations in Rxfp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Rxfp3 APN 15 11,036,391 (GRCm39) missense probably damaging 0.98
IGL00870:Rxfp3 APN 15 11,036,301 (GRCm39) missense probably damaging 0.99
IGL01844:Rxfp3 APN 15 11,037,132 (GRCm39) missense probably damaging 0.97
IGL02998:Rxfp3 APN 15 11,037,054 (GRCm39) missense probably damaging 0.98
R0462:Rxfp3 UTSW 15 11,037,063 (GRCm39) missense probably damaging 1.00
R1567:Rxfp3 UTSW 15 11,036,187 (GRCm39) missense probably benign 0.00
R1616:Rxfp3 UTSW 15 11,036,389 (GRCm39) missense probably damaging 0.96
R2389:Rxfp3 UTSW 15 11,036,770 (GRCm39) missense probably damaging 0.97
R2432:Rxfp3 UTSW 15 11,036,226 (GRCm39) missense probably damaging 1.00
R3081:Rxfp3 UTSW 15 11,037,303 (GRCm39) missense probably benign 0.00
R4936:Rxfp3 UTSW 15 11,036,866 (GRCm39) missense probably damaging 1.00
R4963:Rxfp3 UTSW 15 11,036,367 (GRCm39) missense probably damaging 1.00
R5788:Rxfp3 UTSW 15 11,036,250 (GRCm39) missense possibly damaging 0.58
R6679:Rxfp3 UTSW 15 11,035,956 (GRCm39) missense probably damaging 1.00
R7148:Rxfp3 UTSW 15 11,036,863 (GRCm39) missense possibly damaging 0.66
R7252:Rxfp3 UTSW 15 11,036,025 (GRCm39) missense probably benign 0.40
R7495:Rxfp3 UTSW 15 11,036,011 (GRCm39) missense probably damaging 1.00
R7555:Rxfp3 UTSW 15 11,036,362 (GRCm39) missense probably damaging 1.00
R7743:Rxfp3 UTSW 15 11,037,216 (GRCm39) missense probably damaging 0.99
R8361:Rxfp3 UTSW 15 11,036,784 (GRCm39) missense probably benign 0.05
R9717:Rxfp3 UTSW 15 11,037,111 (GRCm39) missense possibly damaging 0.90
X0065:Rxfp3 UTSW 15 11,036,515 (GRCm39) missense probably benign 0.45
Posted On 2016-08-02