Incidental Mutation 'R1533:Lgr6'
ID 166707
Institutional Source Beutler Lab
Gene Symbol Lgr6
Ensembl Gene ENSMUSG00000042793
Gene Name leucine-rich repeat-containing G protein-coupled receptor 6
Synonyms A530037C04Rik
MMRRC Submission 039572-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1533 (G1)
Quality Score 196
Status Not validated
Chromosome 1
Chromosomal Location 134911039-135033014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135032670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 70 (Y70F)
Ref Sequence ENSEMBL: ENSMUSP00000035444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044828]
AlphaFold Q3UVD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000044828
AA Change: Y70F

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035444
Gene: ENSMUSG00000042793
AA Change: Y70F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
LRRNT 34 70 5.19e-3 SMART
LRR 64 88 1.03e1 SMART
LRR_TYP 89 112 6.52e-5 SMART
LRR_TYP 113 136 2.71e-2 SMART
LRR_TYP 137 160 4.79e-3 SMART
LRR_TYP 161 184 1.58e-3 SMART
LRR_TYP 185 208 2.36e-2 SMART
LRR_TYP 209 232 3.39e-3 SMART
LRR 233 255 8.97e0 SMART
LRR_TYP 256 279 1.36e-2 SMART
Blast:LRR 281 303 6e-7 BLAST
LRR 327 350 9.24e1 SMART
LRR 351 373 1.41e0 SMART
LRR 374 396 4.84e1 SMART
LRR_TYP 397 420 4.54e-4 SMART
LRR_TYP 421 444 7.15e-2 SMART
transmembrane domain 568 590 N/A INTRINSIC
transmembrane domain 599 621 N/A INTRINSIC
transmembrane domain 643 665 N/A INTRINSIC
transmembrane domain 686 708 N/A INTRINSIC
transmembrane domain 728 750 N/A INTRINSIC
transmembrane domain 776 798 N/A INTRINSIC
transmembrane domain 808 830 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183317
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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 protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter/null allele are viable and fertile with no apparent abnormal phenotype. Similarly, mice homozygous for a knock-in allele are healthy and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G C 3: 121,928,807 (GRCm39) G1340A probably benign Het
Ambra1 T A 2: 91,717,210 (GRCm39) Y836N probably damaging Het
Arhgap26 A T 18: 39,504,130 (GRCm39) H144L probably benign Het
B3gnt5 A G 16: 19,588,364 (GRCm39) I194M probably damaging Het
Bltp1 G T 3: 37,095,524 (GRCm39) G4509V probably damaging Het
Bod1l A T 5: 41,979,498 (GRCm39) C605* probably null Het
C2cd3 G T 7: 100,055,284 (GRCm39) K482N possibly damaging Het
Cd300lg T A 11: 101,934,047 (GRCm39) L98Q probably damaging Het
Cerkl T A 2: 79,171,701 (GRCm39) I386F possibly damaging Het
Cfh T A 1: 140,028,716 (GRCm39) D466V possibly damaging Het
Crtc1 A T 8: 70,850,949 (GRCm39) I221N probably damaging Het
Ctnnbl1 T C 2: 157,678,563 (GRCm39) S389P probably benign Het
Ctsb A T 14: 63,376,544 (GRCm39) D258V probably damaging Het
Cuzd1 G T 7: 130,913,432 (GRCm39) T395N probably damaging Het
Dnah6 T C 6: 73,128,536 (GRCm39) T1240A probably benign Het
Dok7 T A 5: 35,221,671 (GRCm39) probably null Het
Dscaml1 T C 9: 45,361,882 (GRCm39) V214A probably damaging Het
Enpp6 A T 8: 47,518,469 (GRCm39) Y199F probably benign Het
Entpd5 C A 12: 84,441,434 (GRCm39) K111N probably damaging Het
Fam98a A G 17: 75,848,276 (GRCm39) L146S probably damaging Het
Fhod3 A T 18: 25,248,921 (GRCm39) I1367F probably damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Fpr3 T A 17: 18,190,922 (GRCm39) Y64* probably null Het
Fzd6 A T 15: 38,895,019 (GRCm39) H395L probably damaging Het
Gcsh T A 8: 117,715,921 (GRCm39) H54L probably damaging Het
Gsdma T A 11: 98,567,210 (GRCm39) S437T unknown Het
Gzmc A G 14: 56,471,376 (GRCm39) V55A probably damaging Het
Hecw2 T A 1: 53,965,704 (GRCm39) probably null Het
Ifi207 A G 1: 173,555,306 (GRCm39) V792A probably benign Het
Itpr3 C A 17: 27,314,534 (GRCm39) N661K possibly damaging Het
Jmy A T 13: 93,577,819 (GRCm39) I783N probably benign Het
Kcmf1 T C 6: 72,820,003 (GRCm39) E281G possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lnx1 T G 5: 74,780,678 (GRCm39) D330A probably damaging Het
Lrp5 T C 19: 3,664,234 (GRCm39) N106S probably benign Het
Mamdc4 C A 2: 25,459,759 (GRCm39) R135L possibly damaging Het
Mcm3ap A G 10: 76,340,121 (GRCm39) E1464G probably damaging Het
Megf8 T C 7: 25,034,280 (GRCm39) V666A possibly damaging Het
Mettl3 T A 14: 52,534,385 (GRCm39) E331D probably benign Het
Mphosph9 T C 5: 124,405,204 (GRCm39) K789R probably damaging Het
Mtf2 T C 5: 108,239,995 (GRCm39) L234P probably damaging Het
Ncdn C A 4: 126,642,491 (GRCm39) E389* probably null Het
Ndor1 A G 2: 25,139,279 (GRCm39) S231P probably damaging Het
Nelfa T G 5: 34,056,215 (GRCm39) K483Q probably damaging Het
Odad1 T A 7: 45,592,282 (GRCm39) M354K probably benign Het
Opn1sw C T 6: 29,378,923 (GRCm39) R243Q probably benign Het
Or13a24 T A 7: 140,155,034 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,792 (GRCm39) N284S probably damaging Het
Pik3cd T C 4: 149,739,653 (GRCm39) E584G probably damaging Het
Plcb3 A T 19: 6,935,041 (GRCm39) M870K possibly damaging Het
Poc5 A G 13: 96,528,152 (GRCm39) D16G probably damaging Het
Prpf40a A G 2: 53,035,852 (GRCm39) I633T probably damaging Het
Ptpn13 G T 5: 103,704,044 (GRCm39) E1359* probably null Het
Ptprr C A 10: 116,024,113 (GRCm39) Y4* probably null Het
Rbm45 T C 2: 76,202,503 (GRCm39) probably null Het
Rfng C T 11: 120,672,687 (GRCm39) W320* probably null Het
Rgs6 G T 12: 83,138,547 (GRCm39) V294L probably benign Het
Rufy4 T C 1: 74,169,002 (GRCm39) probably null Het
Ruvbl2 T A 7: 45,073,566 (GRCm39) N313I probably damaging Het
Sema4g G A 19: 44,981,256 (GRCm39) V70M probably damaging Het
Siglec1 T C 2: 130,918,078 (GRCm39) T969A probably benign Het
Slc22a27 T A 19: 7,844,348 (GRCm39) T431S possibly damaging Het
Slc25a16 G A 10: 62,756,643 (GRCm39) R38H probably damaging Het
Slc38a6 T C 12: 73,391,626 (GRCm39) V296A probably benign Het
Slc39a11 C T 11: 113,196,748 (GRCm39) V212I probably damaging Het
Sltm A G 9: 70,493,948 (GRCm39) K782E probably damaging Het
Styxl1 T A 5: 135,799,175 (GRCm39) Y23F probably damaging Het
Svs4 T C 2: 164,120,148 (GRCm39) I20V unknown Het
Syt14 G T 1: 192,613,084 (GRCm39) T572K possibly damaging Het
Tbc1d5 A T 17: 51,227,603 (GRCm39) I214N possibly damaging Het
Tm9sf3 A G 19: 41,227,223 (GRCm39) S283P probably benign Het
Tmtc1 C T 6: 148,147,208 (GRCm39) probably null Het
Ttll7 T A 3: 146,602,422 (GRCm39) N73K probably damaging Het
Ttn T A 2: 76,602,802 (GRCm39) K18473N probably damaging Het
Ubr2 A C 17: 47,278,173 (GRCm39) Y721* probably null Het
Vmn1r14 T A 6: 57,211,286 (GRCm39) I288N probably damaging Het
Vmn2r103 T C 17: 19,993,662 (GRCm39) I13T probably benign Het
Vps13a A T 19: 16,678,494 (GRCm39) Y1162* probably null Het
Vps51 C A 19: 6,121,497 (GRCm39) R175L probably benign Het
Zfp523 C A 17: 28,423,473 (GRCm39) S149R probably benign Het
Zik1 A G 7: 10,224,053 (GRCm39) I348T possibly damaging Het
Znfx1 T A 2: 166,898,708 (GRCm39) H72L probably benign Het
Other mutations in Lgr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Lgr6 APN 1 134,929,429 (GRCm39) splice site probably benign
IGL02483:Lgr6 APN 1 134,929,429 (GRCm39) splice site probably benign
IGL03270:Lgr6 APN 1 134,925,442 (GRCm39) missense probably damaging 1.00
R0002:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0294:Lgr6 UTSW 1 135,032,799 (GRCm39) missense unknown
R0294:Lgr6 UTSW 1 134,915,629 (GRCm39) missense probably damaging 0.99
R0361:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0390:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0731:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0734:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0741:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0742:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0765:Lgr6 UTSW 1 134,921,624 (GRCm39) missense probably benign 0.04
R0903:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0904:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0905:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0906:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0907:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0908:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R0967:Lgr6 UTSW 1 134,921,750 (GRCm39) missense probably damaging 1.00
R1078:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R1079:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R1131:Lgr6 UTSW 1 134,915,042 (GRCm39) missense probably damaging 0.98
R1440:Lgr6 UTSW 1 134,915,210 (GRCm39) missense probably damaging 1.00
R1728:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1728:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R1728:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1729:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R1729:Lgr6 UTSW 1 134,915,747 (GRCm39) missense probably benign
R1729:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1729:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1730:Lgr6 UTSW 1 134,915,747 (GRCm39) missense probably benign
R1730:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1730:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1730:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R1739:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1739:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1739:Lgr6 UTSW 1 134,915,747 (GRCm39) missense probably benign
R1739:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R1762:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1762:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1762:Lgr6 UTSW 1 134,915,747 (GRCm39) missense probably benign
R1762:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R1782:Lgr6 UTSW 1 134,915,717 (GRCm39) missense probably damaging 0.98
R1783:Lgr6 UTSW 1 134,915,747 (GRCm39) missense probably benign
R1783:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R1783:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1783:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1784:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1784:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1784:Lgr6 UTSW 1 134,915,747 (GRCm39) missense probably benign
R1784:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R1785:Lgr6 UTSW 1 134,915,747 (GRCm39) missense probably benign
R1785:Lgr6 UTSW 1 134,914,826 (GRCm39) missense probably benign 0.00
R1785:Lgr6 UTSW 1 134,931,214 (GRCm39) missense probably benign
R1785:Lgr6 UTSW 1 134,918,373 (GRCm39) missense probably benign 0.18
R2020:Lgr6 UTSW 1 135,003,013 (GRCm39) missense probably damaging 1.00
R3104:Lgr6 UTSW 1 134,928,210 (GRCm39) splice site probably null
R4629:Lgr6 UTSW 1 135,032,670 (GRCm39) missense probably damaging 0.99
R4792:Lgr6 UTSW 1 134,949,544 (GRCm39) missense probably benign 0.03
R5001:Lgr6 UTSW 1 134,918,370 (GRCm39) missense probably benign 0.01
R5191:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5194:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5195:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5196:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5197:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5228:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5230:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5243:Lgr6 UTSW 1 135,037,010 (GRCm39) unclassified probably benign
R5299:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5300:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5417:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5419:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5601:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5603:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5636:Lgr6 UTSW 1 134,914,816 (GRCm39) missense probably benign 0.28
R5699:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5748:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5767:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5825:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R5971:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6078:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6079:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6138:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6258:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6259:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6260:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6740:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6871:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
R6984:Lgr6 UTSW 1 134,915,740 (GRCm39) missense possibly damaging 0.54
R6986:Lgr6 UTSW 1 134,921,694 (GRCm39) missense possibly damaging 0.80
R7233:Lgr6 UTSW 1 134,928,214 (GRCm39) critical splice donor site probably null
R7699:Lgr6 UTSW 1 134,923,770 (GRCm39) missense probably damaging 1.00
R7700:Lgr6 UTSW 1 134,923,770 (GRCm39) missense probably damaging 1.00
R7734:Lgr6 UTSW 1 134,930,981 (GRCm39) missense probably damaging 1.00
R7849:Lgr6 UTSW 1 134,915,419 (GRCm39) missense probably damaging 1.00
R7970:Lgr6 UTSW 1 134,921,723 (GRCm39) missense probably benign
R8068:Lgr6 UTSW 1 134,991,402 (GRCm39) missense probably benign 0.00
R8252:Lgr6 UTSW 1 134,931,215 (GRCm39) missense probably null 0.78
R8516:Lgr6 UTSW 1 135,003,021 (GRCm39) missense probably damaging 1.00
R8771:Lgr6 UTSW 1 134,933,429 (GRCm39) nonsense probably null
R8858:Lgr6 UTSW 1 134,923,849 (GRCm39) critical splice acceptor site probably null
R8885:Lgr6 UTSW 1 134,915,342 (GRCm39) missense probably benign 0.00
R9014:Lgr6 UTSW 1 134,931,248 (GRCm39) missense probably damaging 1.00
R9277:Lgr6 UTSW 1 134,915,217 (GRCm39) nonsense probably null
R9660:Lgr6 UTSW 1 134,915,245 (GRCm39) missense probably damaging 1.00
R9728:Lgr6 UTSW 1 134,915,245 (GRCm39) missense probably damaging 1.00
Z1088:Lgr6 UTSW 1 134,915,809 (GRCm39) missense possibly damaging 0.89
Z1191:Lgr6 UTSW 1 134,921,748 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACTTCACCAGGTCCCACATTAAG -3'
(R):5'- GCCCAGCCTGTGAAACTGAATAACG -3'

Sequencing Primer
(F):5'- CCACATTAAGCCCATAGGGGTG -3'
(R):5'- GTGAAACTGAATAACGAAGATCACTC -3'
Posted On 2014-04-13