Incidental Mutation 'IGL00870:Rxfp3'
ID13891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rxfp3
Ensembl Gene ENSMUSG00000060735
Gene Namerelaxin family peptide receptor 3
SynonymsSalpr, Rln3r1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00870
Quality Score
Status
Chromosome15
Chromosomal Location11033717-11037991 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11036305 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 327 (V327A)
Ref Sequence ENSEMBL: ENSMUSP00000062741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058007]
Predicted Effect probably damaging
Transcript: ENSMUST00000058007
AA Change: V327A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062741
Gene: ENSMUSG00000060735
AA Change: V327A

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,013,698 D4115E probably damaging Het
Asb5 T C 8: 54,583,660 probably null Het
Cpeb3 A T 19: 37,054,295 I569N probably damaging Het
Cpsf7 T C 19: 10,539,650 probably null Het
Dlat A G 9: 50,650,869 L285P probably damaging Het
Dytn T C 1: 63,677,113 probably benign Het
Ears2 A T 7: 122,055,676 L123Q probably damaging Het
Gad2 T C 2: 22,629,971 V212A probably benign Het
Gon4l T C 3: 88,857,185 Y358H probably damaging Het
Gys1 T C 7: 45,448,013 probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Krtap20-2 G A 16: 89,205,987 G25D unknown Het
Lrif1 T C 3: 106,734,641 probably null Het
Naip2 A G 13: 100,152,060 probably benign Het
Olfr884 A T 9: 38,047,740 I173F probably damaging Het
Oxct1 T A 15: 4,101,818 L396Q probably damaging Het
Pclo A T 5: 14,539,983 R766W unknown Het
Pkhd1 T A 1: 20,571,390 I275F probably damaging Het
Serpinb2 A G 1: 107,523,070 I181V probably damaging Het
Smad5 A G 13: 56,723,667 D25G probably benign Het
Strada A G 11: 106,171,257 L82P probably damaging Het
Tek T A 4: 94,873,081 Y1079* probably null Het
Tenm3 T C 8: 48,417,132 T209A probably benign Het
Tnks1bp1 C T 2: 85,062,236 Q836* probably null Het
Toporsl T C 4: 52,610,172 S22P probably benign Het
Ttc17 T C 2: 94,371,733 probably null Het
Ttc39a A G 4: 109,442,345 probably benign Het
Vangl1 T C 3: 102,189,440 D60G probably damaging Het
Vmn1r13 A T 6: 57,210,113 M86L probably benign Het
Vmn1r220 C T 13: 23,184,477 M16I probably null Het
Other mutations in Rxfp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Rxfp3 APN 15 11036215 missense probably damaging 0.99
IGL01844:Rxfp3 APN 15 11037046 missense probably damaging 0.97
IGL02998:Rxfp3 APN 15 11036968 missense probably damaging 0.98
IGL03079:Rxfp3 APN 15 11036823 missense possibly damaging 0.91
R0462:Rxfp3 UTSW 15 11036977 missense probably damaging 1.00
R1567:Rxfp3 UTSW 15 11036101 missense probably benign 0.00
R1616:Rxfp3 UTSW 15 11036303 missense probably damaging 0.96
R2389:Rxfp3 UTSW 15 11036684 missense probably damaging 0.97
R2432:Rxfp3 UTSW 15 11036140 missense probably damaging 1.00
R3081:Rxfp3 UTSW 15 11037217 missense probably benign 0.00
R4936:Rxfp3 UTSW 15 11036780 missense probably damaging 1.00
R4963:Rxfp3 UTSW 15 11036281 missense probably damaging 1.00
R5788:Rxfp3 UTSW 15 11036164 missense possibly damaging 0.58
R6679:Rxfp3 UTSW 15 11035870 missense probably damaging 1.00
R7148:Rxfp3 UTSW 15 11036777 missense not run
X0065:Rxfp3 UTSW 15 11036429 missense probably benign 0.45
Posted On2012-12-06