Incidental Mutation 'R4792:Lgr6'
ID 368641
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 042419-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4792 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 134911039-135033014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134949544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 229 (S229C)
Ref Sequence ENSEMBL: ENSMUSP00000035444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044828] [ENSMUST00000137968]
AlphaFold Q3UVD5
Predicted Effect probably benign
Transcript: ENSMUST00000044828
AA Change: S229C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035444
Gene: ENSMUSG00000042793
AA Change: S229C

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 probably benign
Transcript: ENSMUST00000137968
SMART Domains Protein: ENSMUSP00000122334
Gene: ENSMUSG00000042793

DomainStartEndE-ValueType
Blast:LRR 4 26 2e-7 BLAST
LRR 50 73 9.24e1 SMART
LRR 74 96 1.41e0 SMART
LRR 97 119 4.84e1 SMART
LRR_TYP 120 143 4.54e-4 SMART
LRR_TYP 144 167 7.15e-2 SMART
Pfam:7tm_1 301 550 3.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139369
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (89/92)
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
2310061N02Rik A G 16: 88,504,651 (GRCm39) S49P possibly damaging Het
Abcb1a T C 5: 8,796,657 (GRCm39) probably null Het
Adgb G A 10: 10,274,647 (GRCm39) T770I probably damaging Het
Adgre4 A T 17: 56,098,491 (GRCm39) T134S probably benign Het
Aldh1a1 A G 19: 20,597,349 (GRCm39) N110S probably damaging Het
Alox5 C A 6: 116,437,964 (GRCm39) V8L possibly damaging Het
Ambra1 A G 2: 91,603,191 (GRCm39) T392A possibly damaging Het
Apob A G 12: 8,058,051 (GRCm39) I2145V probably benign Het
Arhgap39 A G 15: 76,625,717 (GRCm39) Y196H possibly damaging Het
Armh2 A G 13: 24,930,490 (GRCm39) probably benign Het
Carmil1 A G 13: 24,251,173 (GRCm39) L439S probably damaging Het
Carmil1 A T 13: 24,325,659 (GRCm39) S224T possibly damaging Het
Cfh G A 1: 140,028,561 (GRCm39) Q706* probably null Het
Chd2 A C 7: 73,118,325 (GRCm39) S1098A probably benign Het
Chrna5 A T 9: 54,911,985 (GRCm39) I158F probably damaging Het
Cilk1 A G 9: 78,060,975 (GRCm39) D207G probably damaging Het
Col6a5 T C 9: 105,807,983 (GRCm39) T1022A unknown Het
Cul7 T A 17: 46,967,976 (GRCm39) Y423* probably null Het
Cyp2e1 T C 7: 140,353,588 (GRCm39) Y342H probably benign Het
D630045J12Rik T C 6: 38,125,275 (GRCm39) K1580E probably damaging Het
Dnah6 A G 6: 73,066,651 (GRCm39) M2573T probably damaging Het
Dnai4 T C 4: 102,929,881 (GRCm39) K370R possibly damaging Het
Edem1 T A 6: 108,805,707 (GRCm39) probably benign Het
Erp29 C T 5: 121,585,237 (GRCm39) E86K probably benign Het
Esrp2 C A 8: 106,859,141 (GRCm39) R535L probably damaging Het
Gabrb2 C T 11: 42,420,330 (GRCm39) probably benign Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Herc1 T A 9: 66,403,266 (GRCm39) V4395E possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgb2 G A 8: 57,966,344 (GRCm39) C106Y probably damaging Het
Hoxa10 T C 6: 52,209,481 (GRCm39) probably benign Het
Hsd3b1 T A 3: 98,760,226 (GRCm39) Y255F probably benign Het
Ighd T C 12: 113,379,819 (GRCm39) K42E probably benign Het
Ighv1-26 T C 12: 114,752,191 (GRCm39) Y51C possibly damaging Het
Ighv5-2 C T 12: 113,542,419 (GRCm39) E19K possibly damaging Het
Ipo11 T C 13: 106,970,668 (GRCm39) probably benign Het
Itk C T 11: 46,235,658 (GRCm39) probably benign Het
Kat6a T A 8: 23,430,592 (GRCm39) H1982Q unknown Het
Kdm4d C T 9: 14,374,686 (GRCm39) V391I probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhx9 T A 1: 138,766,089 (GRCm39) Y233F possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mapk4 T C 18: 74,070,321 (GRCm39) T191A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naglu C T 11: 100,961,932 (GRCm39) T135M probably damaging Het
Nomo1 T A 7: 45,693,643 (GRCm39) probably null Het
Nop56 T A 2: 130,119,784 (GRCm39) V75E possibly damaging Het
Nr1i3 G A 1: 171,046,164 (GRCm39) C283Y probably damaging Het
Or4x6 T A 2: 89,949,174 (GRCm39) Y256F possibly damaging Het
Or51d1 G A 7: 102,347,933 (GRCm39) G163R probably damaging Het
Or6c38 T G 10: 128,929,489 (GRCm39) Y118S probably damaging Het
Pcdhga2 A G 18: 37,802,452 (GRCm39) S99G probably benign Het
Pcnx1 T A 12: 81,965,925 (GRCm39) D697E probably damaging Het
Plxnb1 G A 9: 108,939,716 (GRCm39) D1462N probably damaging Het
Pnn G T 12: 59,118,991 (GRCm39) V525F possibly damaging Het
Prrc2a A T 17: 35,375,463 (GRCm39) D1062E probably damaging Het
Prss35 T A 9: 86,637,722 (GRCm39) V164E probably damaging Het
Psapl1 T C 5: 36,362,547 (GRCm39) S380P probably benign Het
Rnf222 A T 11: 68,783,845 (GRCm39) E137D probably damaging Het
Rsph10b A G 5: 143,874,135 (GRCm39) T79A probably damaging Het
Sbf2 T C 7: 109,950,817 (GRCm39) Q1164R probably damaging Het
Scn7a T C 2: 66,556,592 (GRCm39) D331G probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Sspo G A 6: 48,438,519 (GRCm39) S1529N probably benign Het
St8sia3 T A 18: 64,398,634 (GRCm39) V31E probably benign Het
Sult1b1 A T 5: 87,662,906 (GRCm39) W265R probably damaging Het
Supt5 G T 7: 28,015,754 (GRCm39) Q863K probably benign Het
Tbc1d31 A G 15: 57,804,124 (GRCm39) R380G probably benign Het
Tdpoz1 T A 3: 93,577,845 (GRCm39) D313V possibly damaging Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,749,451 (GRCm39) probably benign Het
Tpx2 A T 2: 152,727,016 (GRCm39) T428S probably damaging Het
Trip11 A T 12: 101,851,705 (GRCm39) H786Q probably benign Het
Trpc6 A T 9: 8,626,615 (GRCm39) M322L probably benign Het
Try10 T C 6: 41,332,386 (GRCm39) V14A probably benign Het
Unc13d A T 11: 115,961,108 (GRCm39) F416L probably damaging Het
Vmn2r75 A T 7: 85,812,378 (GRCm39) M547K possibly damaging Het
Zbp1 A G 2: 173,051,006 (GRCm39) F288S probably damaging Het
Zc3h11a T A 1: 133,568,436 (GRCm39) Q71L probably damaging Het
Zfp40 G A 17: 23,396,008 (GRCm39) T193I possibly damaging Het
Zfp607a T C 7: 27,578,078 (GRCm39) Y383H probably benign Het
Zfp622 T A 15: 25,987,128 (GRCm39) Y82* probably null Het
Zfp964 T C 8: 70,116,665 (GRCm39) F422L 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
R1533:Lgr6 UTSW 1 135,032,670 (GRCm39) missense possibly damaging 0.66
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
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'- TCTTGCTGAGTGACATCTTAGAG -3'
(R):5'- CGTGGCTTCAGAAATGGGTC -3'

Sequencing Primer
(F):5'- GTGACATCTTAGAGAAGAGTCCC -3'
(R):5'- TGCTTGTCCCTGGAGAAAAG -3'
Posted On 2016-02-04