Incidental Mutation 'IGL01998:Rxfp1'
ID 182949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rxfp1
Ensembl Gene ENSMUSG00000034009
Gene Name relaxin/insulin-like family peptide receptor 1
Synonyms LOC381489, Lgr7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01998
Quality Score
Status
Chromosome 3
Chromosomal Location 79548918-79645187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79567403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 316 (K316E)
Ref Sequence ENSEMBL: ENSMUSP00000077611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078527] [ENSMUST00000182491]
AlphaFold Q6R6I7
Predicted Effect probably benign
Transcript: ENSMUST00000078527
AA Change: K316E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: K316E

DomainStartEndE-ValueType
LDLa 26 64 1.61e-8 SMART
LRRNT 101 130 9.51e-1 SMART
LRR 126 148 3.65e1 SMART
LRR 149 172 1.19e1 SMART
LRR_TYP 173 196 4.61e-5 SMART
LRR 197 220 1.86e0 SMART
LRR 221 244 1.86e2 SMART
LRR 246 269 2.03e1 SMART
LRR 270 293 1.76e2 SMART
LRR_TYP 294 317 4.24e-4 SMART
LRR 318 341 1.15e1 SMART
LRR 342 365 3.65e1 SMART
Pfam:7tm_1 422 681 2.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182491
SMART Domains Protein: ENSMUSP00000138578
Gene: ENSMUSG00000034009

DomainStartEndE-ValueType
LDLa 26 64 1.61e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183040
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility, particularly at younger ages and early generations. Impaired nipple development prevents nursing by females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R probably damaging Het
Other mutations in Rxfp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Rxfp1 APN 3 79,559,523 (GRCm39) missense possibly damaging 0.81
IGL01962:Rxfp1 APN 3 79,594,175 (GRCm39) missense probably damaging 1.00
IGL01975:Rxfp1 APN 3 79,567,385 (GRCm39) missense possibly damaging 0.95
IGL02049:Rxfp1 APN 3 79,557,799 (GRCm39) missense probably damaging 0.99
IGL02153:Rxfp1 APN 3 79,567,427 (GRCm39) missense probably benign 0.00
IGL02490:Rxfp1 APN 3 79,559,474 (GRCm39) critical splice donor site probably null
IGL02526:Rxfp1 APN 3 79,578,153 (GRCm39) critical splice donor site probably null
IGL02985:Rxfp1 APN 3 79,559,533 (GRCm39) missense possibly damaging 0.65
IGL03252:Rxfp1 APN 3 79,574,990 (GRCm39) missense probably benign 0.29
juggler UTSW 3 79,557,898 (GRCm39) nonsense probably null
R0123:Rxfp1 UTSW 3 79,564,783 (GRCm39) missense probably damaging 1.00
R0134:Rxfp1 UTSW 3 79,564,783 (GRCm39) missense probably damaging 1.00
R0230:Rxfp1 UTSW 3 79,552,282 (GRCm39) missense probably damaging 1.00
R0257:Rxfp1 UTSW 3 79,589,842 (GRCm39) missense possibly damaging 0.61
R0265:Rxfp1 UTSW 3 79,574,961 (GRCm39) missense probably benign 0.00
R0362:Rxfp1 UTSW 3 79,645,100 (GRCm39) start codon destroyed probably null 0.99
R0394:Rxfp1 UTSW 3 79,559,684 (GRCm39) missense possibly damaging 0.58
R0422:Rxfp1 UTSW 3 79,558,038 (GRCm39) missense probably benign 0.00
R0547:Rxfp1 UTSW 3 79,612,876 (GRCm39) splice site probably null
R0627:Rxfp1 UTSW 3 79,555,518 (GRCm39) missense probably benign 0.00
R0671:Rxfp1 UTSW 3 79,570,600 (GRCm39) splice site probably null
R1309:Rxfp1 UTSW 3 79,570,599 (GRCm39) splice site probably null
R1756:Rxfp1 UTSW 3 79,578,188 (GRCm39) missense probably benign 0.11
R1803:Rxfp1 UTSW 3 79,645,076 (GRCm39) missense probably benign
R2415:Rxfp1 UTSW 3 79,570,626 (GRCm39) missense probably benign 0.14
R2862:Rxfp1 UTSW 3 79,589,778 (GRCm39) missense possibly damaging 0.80
R4087:Rxfp1 UTSW 3 79,552,256 (GRCm39) missense probably damaging 0.99
R4091:Rxfp1 UTSW 3 79,552,068 (GRCm39) missense probably benign
R4250:Rxfp1 UTSW 3 79,559,579 (GRCm39) missense probably benign 0.41
R4335:Rxfp1 UTSW 3 79,594,105 (GRCm39) critical splice donor site probably null
R4447:Rxfp1 UTSW 3 79,559,434 (GRCm39) intron probably benign
R4607:Rxfp1 UTSW 3 79,594,196 (GRCm39) missense probably damaging 1.00
R4608:Rxfp1 UTSW 3 79,594,196 (GRCm39) missense probably damaging 1.00
R4676:Rxfp1 UTSW 3 79,612,975 (GRCm39) missense probably damaging 1.00
R4768:Rxfp1 UTSW 3 79,594,175 (GRCm39) missense probably damaging 1.00
R4812:Rxfp1 UTSW 3 79,557,889 (GRCm39) missense probably benign 0.00
R4909:Rxfp1 UTSW 3 79,552,109 (GRCm39) missense probably benign
R5059:Rxfp1 UTSW 3 79,570,619 (GRCm39) missense probably benign
R5131:Rxfp1 UTSW 3 79,559,471 (GRCm39) splice site probably null
R5641:Rxfp1 UTSW 3 79,594,199 (GRCm39) missense probably damaging 0.98
R5711:Rxfp1 UTSW 3 79,586,054 (GRCm39) missense probably damaging 1.00
R5757:Rxfp1 UTSW 3 79,568,627 (GRCm39) missense possibly damaging 0.89
R5856:Rxfp1 UTSW 3 79,570,620 (GRCm39) missense possibly damaging 0.76
R6296:Rxfp1 UTSW 3 79,575,155 (GRCm39) missense probably damaging 1.00
R6462:Rxfp1 UTSW 3 79,555,596 (GRCm39) missense probably benign 0.07
R6730:Rxfp1 UTSW 3 79,557,898 (GRCm39) nonsense probably null
R7059:Rxfp1 UTSW 3 79,559,576 (GRCm39) missense probably damaging 1.00
R7530:Rxfp1 UTSW 3 79,557,768 (GRCm39) missense probably benign 0.18
R7626:Rxfp1 UTSW 3 79,555,397 (GRCm39) missense probably damaging 0.99
R7684:Rxfp1 UTSW 3 79,578,214 (GRCm39) missense possibly damaging 0.66
R7951:Rxfp1 UTSW 3 79,559,682 (GRCm39) missense probably damaging 1.00
R8723:Rxfp1 UTSW 3 79,557,802 (GRCm39) missense probably benign
R8786:Rxfp1 UTSW 3 79,570,677 (GRCm39) critical splice acceptor site probably null
R8887:Rxfp1 UTSW 3 79,559,289 (GRCm39) intron probably benign
R8939:Rxfp1 UTSW 3 79,552,231 (GRCm39) missense probably damaging 0.99
R9245:Rxfp1 UTSW 3 79,552,261 (GRCm39) missense probably benign 0.12
R9574:Rxfp1 UTSW 3 79,563,581 (GRCm39) missense probably benign 0.01
R9579:Rxfp1 UTSW 3 79,557,946 (GRCm39) missense probably damaging 1.00
R9799:Rxfp1 UTSW 3 79,578,182 (GRCm39) missense probably damaging 1.00
Z1088:Rxfp1 UTSW 3 79,613,011 (GRCm39) missense probably damaging 1.00
Z1177:Rxfp1 UTSW 3 79,559,674 (GRCm39) nonsense probably null
Posted On 2014-05-07