Incidental Mutation 'R0394:Rxfp1'
ID 31836
Institutional Source Beutler Lab
Gene Symbol Rxfp1
Ensembl Gene ENSMUSG00000034009
Gene Name relaxin/insulin-like family peptide receptor 1
Synonyms LOC381489, Lgr7
MMRRC Submission 038600-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R0394 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 79548918-79645187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79559684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 379 (Y379F)
Ref Sequence ENSEMBL: ENSMUSP00000077611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078527] [ENSMUST00000182491]
AlphaFold Q6R6I7
Predicted Effect possibly damaging
Transcript: ENSMUST00000078527
AA Change: Y379F

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: Y379F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183199
Meta Mutation Damage Score 0.1117 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (79/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,773,065 (GRCm39) S751R probably damaging Het
Abca8a A G 11: 109,917,169 (GRCm39) V1610A probably damaging Het
Actl10 A T 2: 154,394,957 (GRCm39) H202L probably benign Het
Alox12 A T 11: 70,136,761 (GRCm39) V489E probably damaging Het
Ap4m1 T A 5: 138,170,465 (GRCm39) F5I probably benign Het
Atn1 T C 6: 124,726,696 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,661,608 (GRCm39) N529K probably benign Het
B3gntl1 C T 11: 121,510,541 (GRCm39) G336D probably damaging Het
Bmp1 G A 14: 70,727,474 (GRCm39) A703V probably damaging Het
Brat1 T G 5: 140,704,141 (GRCm39) L798R probably damaging Het
Cacna1c C T 6: 118,602,458 (GRCm39) G1302R probably damaging Het
Cdr2 A T 7: 120,557,954 (GRCm39) D190E probably benign Het
Cenpe T C 3: 134,922,186 (GRCm39) probably benign Het
Clstn1 A G 4: 149,728,635 (GRCm39) D687G probably benign Het
Coro1a A G 7: 126,299,812 (GRCm39) F337L probably benign Het
Ddx49 T A 8: 70,749,575 (GRCm39) I252F probably damaging Het
Dennd2a T A 6: 39,499,746 (GRCm39) D273V possibly damaging Het
Derl2 A T 11: 70,905,387 (GRCm39) F32I probably benign Het
Dmrta1 A G 4: 89,580,276 (GRCm39) Y412C probably damaging Het
Dsg1a A G 18: 20,466,807 (GRCm39) N559S probably damaging Het
Dusp26 G T 8: 31,581,987 (GRCm39) R27L probably benign Het
Eif2ak3 T C 6: 70,862,202 (GRCm39) I492T probably benign Het
Exoc7 G T 11: 116,191,224 (GRCm39) Q219K probably damaging Het
F2r T C 13: 95,740,984 (GRCm39) T184A probably damaging Het
Fbf1 G A 11: 116,043,288 (GRCm39) probably benign Het
Fbxo28 A G 1: 182,144,580 (GRCm39) M328T probably benign Het
Fsip2 T A 2: 82,821,419 (GRCm39) D5717E possibly damaging Het
Gnpat C A 8: 125,606,964 (GRCm39) S373R possibly damaging Het
Golgb1 G T 16: 36,695,941 (GRCm39) probably benign Het
Greb1l T C 18: 10,523,374 (GRCm39) V844A probably damaging Het
Hps1 G T 19: 42,759,338 (GRCm39) probably null Het
Inppl1 G T 7: 101,477,402 (GRCm39) probably benign Het
Isca1 C T 13: 59,906,699 (GRCm39) probably null Het
Itgb2 T A 10: 77,378,309 (GRCm39) C46S probably damaging Het
Kifc5b C T 17: 27,142,056 (GRCm39) T178M probably benign Het
Krt80 T C 15: 101,250,180 (GRCm39) T22A probably damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Ltbp2 C T 12: 84,853,198 (GRCm39) probably benign Het
Mettl18 A G 1: 163,823,910 (GRCm39) D77G probably benign Het
Mfsd2a A G 4: 122,843,961 (GRCm39) L336P probably benign Het
Mgat4b A G 11: 50,121,746 (GRCm39) probably null Het
Mtmr14 C T 6: 113,257,649 (GRCm39) R233* probably null Het
Nbea T C 3: 55,937,328 (GRCm39) Y761C probably damaging Het
Neb A T 2: 52,067,571 (GRCm39) probably null Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Obi1 T C 14: 104,716,289 (GRCm39) R695G possibly damaging Het
Or6c70 T A 10: 129,709,811 (GRCm39) I272L probably benign Het
Oxr1 T A 15: 41,680,593 (GRCm39) M177K probably damaging Het
Pgm2l1 A G 7: 99,901,405 (GRCm39) Y98C probably damaging Het
Pi4kb G T 3: 94,904,115 (GRCm39) probably benign Het
Pi4kb G A 3: 94,904,116 (GRCm39) probably benign Het
Pirb T A 7: 3,722,247 (GRCm39) S199C probably benign Het
Prss23 A C 7: 89,159,055 (GRCm39) I338S probably damaging Het
Rapgef3 A T 15: 97,655,700 (GRCm39) probably benign Het
Rdh7 T A 10: 127,720,539 (GRCm39) T278S probably benign Het
Rrp1b A G 17: 32,277,538 (GRCm39) D606G probably benign Het
Rxfp2 T C 5: 149,990,853 (GRCm39) V514A probably benign Het
Scel A T 14: 103,799,954 (GRCm39) E202V probably benign Het
Slc25a36 G A 9: 96,962,257 (GRCm39) A244V probably benign Het
Slc2a13 T G 15: 91,400,595 (GRCm39) Q209P probably damaging Het
Slc38a6 A G 12: 73,399,304 (GRCm39) N456S probably benign Het
Slc6a12 G T 6: 121,323,957 (GRCm39) probably null Het
Spag6l T C 16: 16,598,493 (GRCm39) I333V probably benign Het
Spen G A 4: 141,201,514 (GRCm39) A2371V probably benign Het
St6galnac1 T C 11: 116,657,466 (GRCm39) D366G probably damaging Het
Stk33 T C 7: 108,940,696 (GRCm39) S5G probably benign Het
Tex56 T C 13: 35,116,636 (GRCm39) probably benign Het
Tle2 T C 10: 81,413,482 (GRCm39) L84P probably damaging Het
Tmem14a T C 1: 21,296,876 (GRCm39) M78T probably damaging Het
Top2b T A 14: 16,413,556 (GRCm38) probably null Het
Trmt13 A G 3: 116,376,299 (GRCm39) F364S probably damaging Het
Unkl T A 17: 25,449,751 (GRCm39) probably null Het
Uvrag A G 7: 98,653,926 (GRCm39) probably benign Het
Vmn2r8 T A 5: 108,949,938 (GRCm39) N303I probably benign Het
Vsig10l A G 7: 43,114,879 (GRCm39) N360S probably damaging Het
Zdhhc25 T C 15: 88,485,123 (GRCm39) Y153H probably damaging Het
Zfp646 T C 7: 127,482,434 (GRCm39) V1537A possibly damaging Het
Zfp664 T A 5: 124,963,129 (GRCm39) Y174* probably null 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
IGL01998:Rxfp1 APN 3 79,567,403 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GTGCTCCAGCCCCACAGAATTTAT -3'
(R):5'- GCATTCGTCATGCCTGCTTGTAGT -3'

Sequencing Primer
(F):5'- TCTAGTAGCAACGATTTCAAGCC -3'
(R):5'- CCCACACATGCTTTTACTATAAAGTC -3'
Posted On 2013-04-24