Incidental Mutation 'R1440:Lgr6'
ID 160897
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 039495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1440 (G1)
Quality Score 136
Status Validated
Chromosome 1
Chromosomal Location 134911039-135033014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134915210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 513 (A513S)
Ref Sequence ENSEMBL: ENSMUSP00000122334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044828] [ENSMUST00000137968]
AlphaFold Q3UVD5
Predicted Effect probably damaging
Transcript: ENSMUST00000044828
AA Change: A790S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035444
Gene: ENSMUSG00000042793
AA Change: A790S

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 damaging
Transcript: ENSMUST00000137968
AA Change: A513S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122334
Gene: ENSMUSG00000042793
AA Change: A513S

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
Meta Mutation Damage Score 0.3999 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.7%
Validation Efficiency 95% (94/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T G 12: 72,928,195 (GRCm39) N512T possibly damaging Het
Aadacl2 A T 3: 59,932,313 (GRCm39) H276L probably damaging Het
Adam12 G A 7: 133,533,543 (GRCm39) T445M probably benign Het
Ash2l A T 8: 26,317,406 (GRCm39) F290L probably benign Het
Asxl3 C T 18: 22,658,281 (GRCm39) P2097L probably benign Het
Atmin A G 8: 117,684,115 (GRCm39) I592V probably damaging Het
Atxn2 T C 5: 121,941,145 (GRCm39) probably null Het
BC004004 T C 17: 29,515,665 (GRCm39) probably null Het
Cacna1e T C 1: 154,437,552 (GRCm39) N328S possibly damaging Het
Cacna2d1 A T 5: 16,560,493 (GRCm39) K765I probably damaging Het
Cc2d1a A G 8: 84,860,604 (GRCm39) probably null Het
Ccdc28b A G 4: 129,514,408 (GRCm39) V198A probably benign Het
Ces1b G T 8: 93,794,736 (GRCm39) R288S probably damaging Het
Cfap100 T G 6: 90,389,166 (GRCm39) T198P probably benign Het
Clint1 T C 11: 45,781,610 (GRCm39) S227P probably damaging Het
Cntn5 C A 9: 10,145,344 (GRCm39) C122F probably damaging Het
Col3a1 A G 1: 45,382,472 (GRCm39) probably null Het
Cyp4a10 A C 4: 115,386,646 (GRCm39) D431A probably damaging Het
Cyp4f16 CTATG CTATGTATG 17: 32,769,708 (GRCm39) probably null Het
Dlc1 A T 8: 37,060,617 (GRCm39) probably benign Het
Dlgap2 T C 8: 14,777,060 (GRCm39) S102P probably benign Het
Dnah7b G A 1: 46,117,753 (GRCm39) probably benign Het
Dock10 A C 1: 80,526,853 (GRCm39) S1124A probably benign Het
Dscam C T 16: 96,621,151 (GRCm39) R519H probably damaging Het
Efcab3 A T 11: 104,999,581 (GRCm39) probably benign Het
Evi2a G T 11: 79,418,096 (GRCm39) N171K probably damaging Het
Fbxl15 T C 19: 46,318,684 (GRCm39) L286P probably damaging Het
Fpr1 T A 17: 18,097,525 (GRCm39) I155F probably benign Het
Gcat C T 15: 78,918,194 (GRCm39) A84V probably null Het
Gls A G 1: 52,230,293 (GRCm39) F473L possibly damaging Het
Gnat1 T C 9: 107,554,164 (GRCm39) D169G probably damaging Het
Grm3 A C 5: 9,639,958 (GRCm39) M29R probably benign Het
Herc1 A T 9: 66,375,085 (GRCm39) D3303V probably damaging Het
Ibsp G A 5: 104,458,405 (GRCm39) G314D unknown Het
Irag2 C T 6: 145,120,237 (GRCm39) T484M possibly damaging Het
Lrriq4 T A 3: 30,704,910 (GRCm39) C313S probably damaging Het
Marchf10 G T 11: 105,281,409 (GRCm39) T292K probably damaging Het
Mcoln2 C A 3: 145,896,137 (GRCm39) Y6* probably null Het
Mup4 A G 4: 59,958,076 (GRCm39) I164T probably damaging Het
Myo1b T C 1: 51,817,717 (GRCm39) probably benign Het
Ncam1 A G 9: 49,456,100 (GRCm39) I506T probably damaging Het
Notch1 A T 2: 26,370,976 (GRCm39) probably benign Het
Nr4a3 A T 4: 48,051,777 (GRCm39) Q177L probably benign Het
Nsun4 A G 4: 115,910,147 (GRCm39) S138P possibly damaging Het
Or1a1 A G 11: 74,086,505 (GRCm39) M59V probably damaging Het
Or2b6 G T 13: 21,823,560 (GRCm39) N44K probably benign Het
Or2d36 A T 7: 106,747,405 (GRCm39) N294I probably damaging Het
Or4k5 T C 14: 50,385,815 (GRCm39) N172S probably damaging Het
Pagr1a A T 7: 126,615,469 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,429,343 (GRCm39) I82L probably benign Het
Pds5b A T 5: 150,677,882 (GRCm39) N500I probably damaging Het
Pik3r6 A T 11: 68,422,271 (GRCm39) E223D possibly damaging Het
Pkhd1l1 A T 15: 44,404,384 (GRCm39) probably benign Het
Prex1 T C 2: 166,422,383 (GRCm39) D1204G probably damaging Het
Prickle1 C T 15: 93,402,955 (GRCm39) E244K possibly damaging Het
Ptprd A T 4: 76,002,789 (GRCm39) V211E probably damaging Het
Rad51d G A 11: 82,781,179 (GRCm39) R23* probably null Het
Rapgef6 G A 11: 54,517,534 (GRCm39) G262R probably damaging Het
Reln A G 5: 22,333,600 (GRCm39) probably benign Het
Rev1 T C 1: 38,127,286 (GRCm39) T325A probably damaging Het
Rnd3 T A 2: 51,022,518 (GRCm39) I175L probably benign Het
Rp1 C A 1: 4,417,619 (GRCm39) L1164F probably damaging Het
S100a7a T C 3: 90,562,942 (GRCm39) V43A probably benign Het
Scaper A C 9: 55,510,202 (GRCm39) Y1104* probably null Het
Scn2a T A 2: 65,594,938 (GRCm39) V1929D probably benign Het
Scn3a T C 2: 65,359,785 (GRCm39) N141S possibly damaging Het
Slc12a7 T G 13: 73,949,127 (GRCm39) L718R probably damaging Het
Slc15a2 T C 16: 36,605,005 (GRCm39) probably benign Het
Slc35b3 G A 13: 39,138,110 (GRCm39) Q100* probably null Het
Slc9a5 T A 8: 106,081,785 (GRCm39) V170E possibly damaging Het
Snx5 T G 2: 144,096,731 (GRCm39) K278T possibly damaging Het
Sorbs2 T C 8: 46,243,000 (GRCm39) probably benign Het
Stab1 C T 14: 30,873,647 (GRCm39) W1008* probably null Het
Stab2 C T 10: 86,697,231 (GRCm39) probably null Het
Tacc3 A G 5: 33,825,321 (GRCm39) E377G probably benign Het
Tango6 T C 8: 107,415,671 (GRCm39) L164P probably damaging Het
Tbc1d12 T A 19: 38,902,796 (GRCm39) S570T possibly damaging Het
Thbs1 T C 2: 117,944,836 (GRCm39) F217L probably damaging Het
Tmbim6 T A 15: 99,300,004 (GRCm39) V40E probably damaging Het
Tmigd1 A T 11: 76,800,986 (GRCm39) N158Y probably damaging Het
Top3b C T 16: 16,710,641 (GRCm39) R824* probably null Het
Tram1l1 A T 3: 124,115,580 (GRCm39) K247* probably null Het
Tsc2 T C 17: 24,833,366 (GRCm39) Y686C probably damaging Het
Tsga10 T C 1: 37,858,680 (GRCm39) Q218R probably damaging Het
Uba6 G T 5: 86,288,282 (GRCm39) A439D probably damaging Het
Ubn1 C A 16: 4,895,158 (GRCm39) P735T probably damaging Het
Usp40 A G 1: 87,909,808 (GRCm39) S549P probably benign Het
Utp20 T C 10: 88,655,201 (GRCm39) T176A probably benign Het
Utp4 T G 8: 107,624,685 (GRCm39) probably benign Het
Xpo5 C T 17: 46,518,853 (GRCm39) probably benign Het
Zfp979 A T 4: 147,698,493 (GRCm39) I72K possibly damaging 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
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
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'- ACAAAATGGTTTCCCTCCAGCCTG -3'
(R):5'- ATGATGAACTCGCTCTGCTTCCTG -3'

Sequencing Primer
(F):5'- GGAAGCCATAGGTCTCTAGC -3'
(R):5'- CTCTGCTTCCTGGTGGTG -3'
Posted On 2014-03-14