Incidental Mutation 'R4768:Rxfp1'
ID 366263
Institutional Source Beutler Lab
Gene Symbol Rxfp1
Ensembl Gene ENSMUSG00000034009
Gene Name relaxin/insulin-like family peptide receptor 1
Synonyms LOC381489, Lgr7
MMRRC Submission 042409-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R4768 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 79548918-79645187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79594175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 73 (D73G)
Ref Sequence ENSEMBL: ENSMUSP00000138578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078527] [ENSMUST00000182491]
AlphaFold Q6R6I7
Predicted Effect probably benign
Transcript: ENSMUST00000078527
AA Change: D73G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: D73G

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 damaging
Transcript: ENSMUST00000182491
AA Change: D73G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138578
Gene: ENSMUSG00000034009
AA Change: D73G

DomainStartEndE-ValueType
LDLa 26 64 1.61e-8 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm A G 3: 153,628,579 (GRCm39) Y419H probably benign Het
Adam28 A G 14: 68,872,264 (GRCm39) V326A possibly damaging Het
Amdhd1 T A 10: 93,370,346 (GRCm39) E164V possibly damaging Het
Arhgap5 T C 12: 52,604,275 (GRCm39) L29S probably damaging Het
Asb5 G A 8: 55,038,031 (GRCm39) D185N probably benign Het
Ascc3 T C 10: 50,576,595 (GRCm39) I850T probably damaging Het
Atxn1 A G 13: 45,711,024 (GRCm39) V636A probably damaging Het
Bmp4 C T 14: 46,623,381 (GRCm39) R55Q probably damaging Het
Brd8dc T C 18: 34,714,005 (GRCm39) R207G probably damaging Het
Cmas T C 6: 142,710,157 (GRCm39) probably null Het
Dchs1 T C 7: 105,420,827 (GRCm39) D531G possibly damaging Het
Etv1 T C 12: 38,877,792 (GRCm39) L44P probably damaging Het
Fam13c T A 10: 70,387,580 (GRCm39) I448N probably damaging Het
Fcsk T C 8: 111,618,766 (GRCm39) T331A probably benign Het
Fut8 A G 12: 77,412,054 (GRCm39) K135E probably benign Het
Gabrg1 A G 5: 70,911,516 (GRCm39) F370S probably damaging Het
Ighv1-5 A T 12: 114,477,143 (GRCm39) M53K probably damaging Het
Igkv9-120 G T 6: 68,027,351 (GRCm39) R88S possibly damaging Het
Kansl1l A G 1: 66,840,292 (GRCm39) V336A probably damaging Het
Krt27 T A 11: 99,240,351 (GRCm39) D189V probably damaging Het
Marf1 A T 16: 13,949,461 (GRCm39) F1033I possibly damaging Het
Mdfi G A 17: 48,135,475 (GRCm39) T85M probably damaging Het
Mrgpra3 C A 7: 47,239,476 (GRCm39) R150L possibly damaging Het
Mst1r C A 9: 107,788,849 (GRCm39) T456K probably damaging Het
Myh14 A T 7: 44,263,099 (GRCm39) M1734K probably benign Het
Myo1e T C 9: 70,277,751 (GRCm39) I816T possibly damaging Het
Or7d10 A C 9: 19,831,841 (GRCm39) N112T possibly damaging Het
Or8b12 T C 9: 37,658,177 (GRCm39) L249P probably damaging Het
Or8b55 T A 9: 38,727,245 (GRCm39) Y149N probably damaging Het
Or8k28 A T 2: 86,285,994 (GRCm39) L207* probably null Het
Pde4d A G 13: 110,070,408 (GRCm39) R6G probably damaging Het
Pilrb1 G A 5: 137,855,788 (GRCm39) probably benign Het
Prrx1 A G 1: 163,085,334 (GRCm39) Y199H probably damaging Het
Ryr1 G T 7: 28,704,246 (GRCm39) probably benign Het
Shprh A G 10: 11,057,284 (GRCm39) E1068G probably damaging Het
Slc19a3 G A 1: 83,000,834 (GRCm39) T61I probably damaging Het
Slc9a2 G A 1: 40,765,534 (GRCm39) R308Q probably damaging Het
Suclg2 T G 6: 95,543,469 (GRCm39) I321L probably damaging Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Ttn C T 2: 76,599,110 (GRCm39) probably benign Het
Upp2 T C 2: 58,667,907 (GRCm39) V182A probably damaging Het
Vmn2r65 A G 7: 84,596,602 (GRCm39) L151P probably damaging Het
Xylt2 T C 11: 94,561,298 (GRCm39) D155G probably benign Het
Zzz3 A G 3: 152,154,420 (GRCm39) D557G 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
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
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
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'- GATGCTTGCAACTAGAAAACCATAC -3'
(R):5'- TAAATATGGAGACTGGGGCCAC -3'

Sequencing Primer
(F):5'- TTGCAACTAGAAAACCATACTTGAC -3'
(R):5'- TGGGGACAGAAACGCATACCC -3'
Posted On 2015-12-21