Incidental Mutation 'R1174:Rxfp2'
ID 99799
Institutional Source Beutler Lab
Gene Symbol Rxfp2
Ensembl Gene ENSMUSG00000053368
Gene Name relaxin/insulin-like family peptide receptor 2
Synonyms LGR8, Gpr106, Great
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1174 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 149942140-150005649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149975021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 210 (V210A)
Ref Sequence ENSEMBL: ENSMUSP00000144536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065745] [ENSMUST00000110496] [ENSMUST00000201612]
AlphaFold Q91ZZ5
Predicted Effect probably benign
Transcript: ENSMUST00000065745
SMART Domains Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LDLa 27 65 2.55e-11 SMART
LRRNT 93 124 3.83e0 SMART
LRR 120 142 1.71e2 SMART
LRR 143 166 6.77e0 SMART
LRR_TYP 167 190 2.84e-5 SMART
LRR 191 214 7.36e0 SMART
LRR 215 238 1.26e1 SMART
LRR 239 262 2.61e1 SMART
LRR 263 286 8.98e1 SMART
LRR_TYP 287 310 2.24e-3 SMART
LRR 311 334 1.15e1 SMART
LRR 335 358 2.14e1 SMART
Pfam:7tm_1 415 674 1.4e-26 PFAM
low complexity region 682 695 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110496
SMART Domains Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LDLa 27 65 2.55e-11 SMART
LRRNT 93 124 3.83e0 SMART
LRR 120 142 1.71e2 SMART
LRR 143 166 6.77e0 SMART
LRR_TYP 167 190 2.84e-5 SMART
LRR 191 214 7.36e0 SMART
LRR 215 238 1.26e1 SMART
LRR 239 262 2.61e1 SMART
LRR 263 286 2.82e0 SMART
LRR 287 310 1.15e1 SMART
LRR 311 334 2.14e1 SMART
Pfam:7tm_1 391 650 1.5e-27 PFAM
low complexity region 658 671 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143989
Predicted Effect probably benign
Transcript: ENSMUST00000201612
AA Change: V210A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: V210A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LDLa 27 65 1.3e-13 SMART
LRRNT 93 124 1.9e-2 SMART
LRR 120 142 7.4e-1 SMART
LRR 143 166 2.9e-2 SMART
LRR_TYP 167 190 1.2e-7 SMART
LRR 229 252 5.4e-2 SMART
LRR 253 276 1.1e-1 SMART
LRR 277 300 1.2e-2 SMART
LRR 301 324 5e-2 SMART
LRR 325 348 9.3e-2 SMART
Pfam:7tm_1 405 664 1.5e-24 PFAM
low complexity region 672 685 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
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 GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Male homozygotes for a targeted null mutation exhibit bilateral intraabdominal cryptorchidism and sterility associated with a failure in the differentiation of the gubernaculae, ligaments that control testicular movement during development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Other mutations in Rxfp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Rxfp2 APN 5 149,989,893 (GRCm39) missense probably benign
IGL00984:Rxfp2 APN 5 149,990,597 (GRCm39) missense probably benign 0.24
IGL02475:Rxfp2 APN 5 149,987,151 (GRCm39) missense probably benign 0.07
IGL02637:Rxfp2 APN 5 149,979,378 (GRCm39) missense probably damaging 0.99
IGL02992:Rxfp2 APN 5 149,975,021 (GRCm39) missense probably benign 0.01
IGL03052:Rxfp2 APN 5 149,966,645 (GRCm39) splice site probably benign
IGL03203:Rxfp2 APN 5 149,987,145 (GRCm39) missense probably benign 0.08
R0158:Rxfp2 UTSW 5 149,975,093 (GRCm39) missense probably benign 0.14
R0394:Rxfp2 UTSW 5 149,990,853 (GRCm39) missense probably benign 0.03
R0499:Rxfp2 UTSW 5 149,989,880 (GRCm39) missense probably damaging 1.00
R0576:Rxfp2 UTSW 5 149,961,712 (GRCm39) missense probably benign 0.01
R0720:Rxfp2 UTSW 5 149,967,584 (GRCm39) missense probably benign 0.04
R1172:Rxfp2 UTSW 5 149,975,021 (GRCm39) missense probably benign 0.01
R1173:Rxfp2 UTSW 5 149,975,021 (GRCm39) missense probably benign 0.01
R1175:Rxfp2 UTSW 5 149,975,021 (GRCm39) missense probably benign 0.01
R1606:Rxfp2 UTSW 5 149,983,362 (GRCm39) missense probably benign
R1720:Rxfp2 UTSW 5 149,966,564 (GRCm39) nonsense probably null
R2040:Rxfp2 UTSW 5 149,993,677 (GRCm39) missense probably benign
R3029:Rxfp2 UTSW 5 149,966,595 (GRCm39) missense probably benign 0.05
R3905:Rxfp2 UTSW 5 149,979,450 (GRCm39) splice site probably null
R4056:Rxfp2 UTSW 5 149,975,098 (GRCm39) critical splice donor site probably null
R4156:Rxfp2 UTSW 5 149,975,020 (GRCm39) missense probably benign 0.01
R4282:Rxfp2 UTSW 5 149,993,735 (GRCm39) missense possibly damaging 0.94
R4418:Rxfp2 UTSW 5 149,972,265 (GRCm39) missense probably benign
R4935:Rxfp2 UTSW 5 149,975,097 (GRCm39) critical splice donor site probably null
R5010:Rxfp2 UTSW 5 149,990,825 (GRCm39) missense probably damaging 1.00
R5286:Rxfp2 UTSW 5 149,958,909 (GRCm39) missense probably damaging 1.00
R5373:Rxfp2 UTSW 5 149,993,725 (GRCm39) missense probably benign 0.21
R5374:Rxfp2 UTSW 5 149,993,725 (GRCm39) missense probably benign 0.21
R5530:Rxfp2 UTSW 5 149,980,275 (GRCm39) missense probably damaging 1.00
R5844:Rxfp2 UTSW 5 149,966,589 (GRCm39) missense probably benign 0.00
R6021:Rxfp2 UTSW 5 149,987,202 (GRCm39) missense possibly damaging 0.46
R6211:Rxfp2 UTSW 5 149,967,591 (GRCm39) splice site probably null
R6401:Rxfp2 UTSW 5 149,966,595 (GRCm39) missense probably benign
R6841:Rxfp2 UTSW 5 149,942,210 (GRCm39) start gained probably benign
R6981:Rxfp2 UTSW 5 149,972,313 (GRCm39) splice site probably null
R7012:Rxfp2 UTSW 5 150,004,659 (GRCm39) missense probably benign 0.00
R7032:Rxfp2 UTSW 5 149,993,813 (GRCm39) missense probably damaging 1.00
R7151:Rxfp2 UTSW 5 149,966,572 (GRCm39) missense probably benign 0.01
R7205:Rxfp2 UTSW 5 149,983,368 (GRCm39) missense probably benign 0.00
R7205:Rxfp2 UTSW 5 149,983,364 (GRCm39) missense probably benign 0.05
R7209:Rxfp2 UTSW 5 149,976,563 (GRCm39) splice site probably null
R7468:Rxfp2 UTSW 5 149,990,801 (GRCm39) missense possibly damaging 0.70
R7475:Rxfp2 UTSW 5 149,973,046 (GRCm39) missense possibly damaging 0.94
R8181:Rxfp2 UTSW 5 149,987,201 (GRCm39) missense probably benign 0.22
R8258:Rxfp2 UTSW 5 149,983,365 (GRCm39) missense probably damaging 0.97
R8259:Rxfp2 UTSW 5 149,983,365 (GRCm39) missense probably damaging 0.97
R8443:Rxfp2 UTSW 5 149,973,068 (GRCm39) missense possibly damaging 0.45
R8470:Rxfp2 UTSW 5 149,993,834 (GRCm39) missense possibly damaging 0.94
R8796:Rxfp2 UTSW 5 149,942,262 (GRCm39) start gained probably benign
R8906:Rxfp2 UTSW 5 149,989,888 (GRCm39) missense possibly damaging 0.90
R9515:Rxfp2 UTSW 5 149,979,444 (GRCm39) missense possibly damaging 0.61
R9682:Rxfp2 UTSW 5 149,966,564 (GRCm39) nonsense probably null
R9732:Rxfp2 UTSW 5 149,993,767 (GRCm39) missense probably damaging 1.00
X0067:Rxfp2 UTSW 5 149,975,083 (GRCm39) missense probably damaging 1.00
Z1177:Rxfp2 UTSW 5 149,972,275 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-01-15