Incidental Mutation 'R0394:Rxfp2'
ID 31850
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 038600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0394 (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 149990853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 514 (V514A)
Ref Sequence ENSEMBL: ENSMUSP00000106122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065745] [ENSMUST00000110496] [ENSMUST00000201612]
AlphaFold Q91ZZ5
Predicted Effect probably benign
Transcript: ENSMUST00000065745
AA Change: V538A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: V538A

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
AA Change: V514A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: V514A

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: ENSMUST00000138901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143989
Predicted Effect probably benign
Transcript: ENSMUST00000201612
AA Change: V528A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: V528A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202037
Meta Mutation Damage Score 0.0898 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 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: 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
Rxfp1 T A 3: 79,559,684 (GRCm39) Y379F possibly damaging 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 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
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
Predicted Primers PCR Primer
(F):5'- AGTATCAGAAGTATGCGCTGCTGTG -3'
(R):5'- AGGGTTTCAGGACTGGGCACTAAC -3'

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