Incidental Mutation 'IGL02637:Rxfp2'
ID 301541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rxfp2
Ensembl Gene ENSMUSG00000053368
Gene Name relaxin/insulin-like family peptide receptor 2
Synonyms LGR8, Gpr106, Great
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02637
Quality Score
Status
Chromosome 5
Chromosomal Location 149942140-150005649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149979378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 246 (D246G)
Ref Sequence ENSEMBL: ENSMUSP00000067897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065745] [ENSMUST00000110496] [ENSMUST00000201612]
AlphaFold Q91ZZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000065745
AA Change: D246G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: D246G

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 possibly damaging
Transcript: ENSMUST00000110496
AA Change: D246G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: D246G

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: D260G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: D260G

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
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,309,907 (GRCm39) Y435C probably damaging Het
Adgrb1 C T 15: 74,460,143 (GRCm39) probably benign Het
Ampd1 T C 3: 103,002,199 (GRCm39) probably benign Het
Camk1g G A 1: 193,030,696 (GRCm39) P338S probably benign Het
Cog3 T C 14: 75,959,636 (GRCm39) probably benign Het
Crat A G 2: 30,296,401 (GRCm39) V355A probably benign Het
Ctla2a T A 13: 61,083,899 (GRCm39) probably benign Het
Dnaaf9 C A 2: 130,656,227 (GRCm39) probably benign Het
Efhb A G 17: 53,756,580 (GRCm39) I357T probably benign Het
Fh1 T C 1: 175,437,332 (GRCm39) M256V probably benign Het
Gabrg3 A G 7: 56,384,775 (GRCm39) I262T probably damaging Het
Gata2 C T 6: 88,181,558 (GRCm39) probably benign Het
Gm6356 A G 14: 6,970,926 (GRCm38) V178A possibly damaging Het
Hacl1 T C 14: 31,362,458 (GRCm39) E63G probably damaging Het
Hid1 A T 11: 115,241,421 (GRCm39) I623N probably damaging Het
Hivep2 A G 10: 14,006,452 (GRCm39) K1017E possibly damaging Het
Ifi208 C T 1: 173,506,508 (GRCm39) T97I probably benign Het
Ighg1 T C 12: 113,293,132 (GRCm39) H186R unknown Het
Igkv8-26 T C 6: 70,170,642 (GRCm39) S78P probably damaging Het
Itih3 T C 14: 30,637,617 (GRCm39) N514S probably benign Het
Kcnj16 A T 11: 110,916,439 (GRCm39) D367V probably benign Het
Klhl23 A T 2: 69,659,258 (GRCm39) R428* probably null Het
Lgmn T C 12: 102,366,485 (GRCm39) E216G probably damaging Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp5 C T 19: 3,680,269 (GRCm39) G405D probably benign Het
Lrrc74a C T 12: 86,788,521 (GRCm39) R53* probably null Het
Lsm12 G A 11: 102,054,948 (GRCm39) R123C probably benign Het
Marchf5 T A 19: 37,198,033 (GRCm39) probably benign Het
Mark3 C A 12: 111,559,090 (GRCm39) A44D probably damaging Het
Mndal T A 1: 173,685,003 (GRCm39) N522I possibly damaging Het
Nbeal2 G T 9: 110,455,045 (GRCm39) R2611S possibly damaging Het
Nlrp4d T C 7: 10,116,482 (GRCm39) noncoding transcript Het
Npnt T A 3: 132,590,271 (GRCm39) I507F possibly damaging Het
Or51a7 G A 7: 102,622,250 (GRCm39) probably benign Het
Pde4a T A 9: 21,112,628 (GRCm39) L91Q probably damaging Het
Pdzd2 C T 15: 12,385,720 (GRCm39) V1017M probably benign Het
Pkhd1l1 A G 15: 44,427,720 (GRCm39) N3259S probably damaging Het
Plxnb2 A T 15: 89,048,260 (GRCm39) H683Q possibly damaging Het
Reck T A 4: 43,898,009 (GRCm39) S96T probably damaging Het
Rnf135 A G 11: 80,089,704 (GRCm39) K347E probably benign Het
Ro60 A G 1: 143,646,526 (GRCm39) V73A probably damaging Het
Sdk1 C T 5: 142,080,327 (GRCm39) T1273I probably damaging Het
Slc12a8 A T 16: 33,355,330 (GRCm39) M49L probably benign Het
Slc5a11 A T 7: 122,859,728 (GRCm39) probably null Het
Surf2 A G 2: 26,809,790 (GRCm39) K247E probably damaging Het
Sys1 G A 2: 164,303,312 (GRCm39) V9M possibly damaging Het
Tcf4 G A 18: 69,480,421 (GRCm39) D18N probably damaging Het
Tmc6 A T 11: 117,658,416 (GRCm39) V773D possibly damaging Het
Trappc13 T C 13: 104,286,570 (GRCm39) Q229R probably benign Het
Xkr5 T C 8: 18,984,099 (GRCm39) E481G probably benign Het
Xpo5 C A 17: 46,546,905 (GRCm39) D885E probably 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
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
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
Posted On 2015-04-16