Incidental Mutation 'R5286:Rxfp2'
ID 424350
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 042870-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5286 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 149942140-150005649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149958909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 33 (F33S)
Ref Sequence ENSEMBL: ENSMUSP00000144536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065745] [ENSMUST00000110496] [ENSMUST00000201612]
AlphaFold Q91ZZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000065745
AA Change: F33S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: F33S

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 damaging
Transcript: ENSMUST00000110496
AA Change: F33S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: F33S

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 damaging
Transcript: ENSMUST00000201612
AA Change: F33S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: F33S

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 0.8141 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (64/64)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,358 (GRCm39) I417V probably benign Het
Adad1 T C 3: 37,119,399 (GRCm39) V160A possibly damaging Het
Adcy7 A G 8: 89,051,487 (GRCm39) E869G probably damaging Het
Birc6 G A 17: 74,977,242 (GRCm39) A4352T probably damaging Het
Brd2 T A 17: 34,334,205 (GRCm39) T286S probably damaging Het
Bsn G T 9: 107,988,123 (GRCm39) probably benign Het
Cables1 A G 18: 12,057,884 (GRCm39) T335A probably benign Het
Cacna1d A T 14: 30,072,682 (GRCm39) S98T possibly damaging Het
Ccdc181 A G 1: 164,105,810 (GRCm39) Y15C probably damaging Het
Dlgap4 T G 2: 156,587,839 (GRCm39) V39G probably damaging Het
Epb41l3 G A 17: 69,569,268 (GRCm39) R504H probably benign Het
Fbxo7 T C 10: 85,857,954 (GRCm39) L23P probably damaging Het
Gm42791 A C 5: 148,887,178 (GRCm39) probably benign Het
Gprc5b A T 7: 118,582,910 (GRCm39) F320I possibly damaging Het
Gtf3c1 G A 7: 125,262,580 (GRCm39) T1093M possibly damaging Het
Hddc3 G T 7: 79,993,543 (GRCm39) R83L probably damaging Het
Iars2 T C 1: 185,055,318 (GRCm39) probably benign Het
Ift25 T A 4: 107,136,998 (GRCm39) I132N probably damaging Het
Igfn1 T C 1: 135,895,599 (GRCm39) K1656E probably benign Het
Itk A C 11: 46,228,926 (GRCm39) probably null Het
Klra6 G A 6: 129,995,932 (GRCm39) T142I probably benign Het
Knop1 C T 7: 118,454,993 (GRCm39) A3T probably damaging Het
Lamc3 A G 2: 31,808,608 (GRCm39) H788R probably damaging Het
Lrif1 A G 3: 106,639,859 (GRCm39) R315G probably damaging Het
Mfap3l A G 8: 61,109,903 (GRCm39) D93G probably benign Het
Ngef T C 1: 87,473,552 (GRCm39) S77G probably benign Het
Nt5dc3 T C 10: 86,640,656 (GRCm39) S13P probably benign Het
Or9s13 T C 1: 92,548,084 (GRCm39) V152A probably benign Het
Pclo T C 5: 14,729,761 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,378,368 (GRCm39) Q1041* probably null Het
Ppl G A 16: 4,906,987 (GRCm39) R1103* probably null Het
Ppp4r3b T A 11: 29,161,667 (GRCm39) D680E probably benign Het
Rasgrf2 T G 13: 92,267,941 (GRCm39) K21T possibly damaging Het
Rev1 T A 1: 38,094,407 (GRCm39) K1004* probably null Het
Rgs9 T G 11: 109,130,277 (GRCm39) probably null Het
Rnf31 T C 14: 55,829,693 (GRCm39) L86P probably damaging Het
Rps13 A G 7: 115,933,155 (GRCm39) Y18H probably damaging Het
Sfmbt1 G A 14: 30,538,777 (GRCm39) V799M probably damaging Het
Stard9 T A 2: 120,532,428 (GRCm39) V2895D probably benign Het
Syn3 T C 10: 86,187,428 (GRCm39) N232S possibly damaging Het
Taok3 T A 5: 117,404,140 (GRCm39) Y772N probably damaging Het
Tspan4 A G 7: 141,062,483 (GRCm39) probably null Het
Ttn C A 2: 76,684,530 (GRCm39) probably benign Het
Vwa3b T A 1: 37,084,120 (GRCm39) W98R probably damaging Het
Vwa5b2 A T 16: 20,415,058 (GRCm39) D360V probably damaging Het
Wdr73 A T 7: 80,541,557 (GRCm39) D328E probably benign Het
Xpo5 A G 17: 46,545,406 (GRCm39) N824S probably benign Het
Zbtb2 C T 10: 4,318,566 (GRCm39) G487S 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
R1174: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
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 PCR Primer
(F):5'- TCTGTGTTCCAAGAATGACCCC -3'
(R):5'- TGGTCATTAGGTCACTAGCCAG -3'

Sequencing Primer
(F):5'- CGGACGAATCAGCTCATGG -3'
(R):5'- GTCATTAGGTCACTAGCCAGAATGC -3'
Posted On 2016-08-04