Incidental Mutation 'IGL02043:Lgr4'
ID 184812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgr4
Ensembl Gene ENSMUSG00000050199
Gene Name leucine-rich repeat-containing G protein-coupled receptor 4
Synonyms Gpr48, A330106J01Rik, A930009A08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02043
Quality Score
Status
Chromosome 2
Chromosomal Location 109747992-109844602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109841635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 516 (M516K)
Ref Sequence ENSEMBL: ENSMUSP00000106666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046548] [ENSMUST00000111037]
AlphaFold A2ARI4
Predicted Effect probably damaging
Transcript: ENSMUST00000046548
AA Change: M540K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: M540K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LRRNT 28 61 6.68e-6 SMART
LRR 55 79 1.49e1 SMART
LRR 80 103 1.99e0 SMART
LRR_TYP 104 127 2.75e-3 SMART
LRR_TYP 128 151 2.79e-4 SMART
LRR 152 175 2.54e1 SMART
LRR 176 199 4.65e-1 SMART
LRR_TYP 200 223 1.04e-3 SMART
LRR 224 246 6.4e0 SMART
LRR_TYP 247 270 5.99e-4 SMART
LRR 272 294 9.77e1 SMART
LRR 318 341 3e1 SMART
LRR 343 363 4.71e1 SMART
LRR 364 387 1.49e1 SMART
LRR_TYP 388 411 1.15e-5 SMART
LRR 412 435 3.98e1 SMART
low complexity region 500 516 N/A INTRINSIC
Pfam:7tm_1 555 801 2.7e-10 PFAM
low complexity region 824 837 N/A INTRINSIC
low complexity region 910 924 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111037
AA Change: M516K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: M516K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LRRNT 28 61 6.68e-6 SMART
LRR 55 79 9.77e1 SMART
LRR_TYP 80 103 2.75e-3 SMART
LRR_TYP 104 127 2.79e-4 SMART
LRR 128 151 2.54e1 SMART
LRR 152 175 4.65e-1 SMART
LRR_TYP 176 199 1.04e-3 SMART
LRR 200 222 6.4e0 SMART
LRR_TYP 223 246 5.99e-4 SMART
LRR 248 270 9.77e1 SMART
LRR 294 317 3e1 SMART
LRR 319 339 4.71e1 SMART
LRR 340 363 1.49e1 SMART
LRR_TYP 364 387 1.15e-5 SMART
LRR 388 411 3.98e1 SMART
low complexity region 476 492 N/A INTRINSIC
Pfam:7tm_1 531 777 9.3e-17 PFAM
low complexity region 800 813 N/A INTRINSIC
low complexity region 886 900 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.] The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Lgr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02247:Lgr4 APN 2 109,838,420 (GRCm39) splice site probably benign
IGL02247:Lgr4 APN 2 109,832,846 (GRCm39) missense probably benign
IGL02302:Lgr4 APN 2 109,832,841 (GRCm39) missense probably damaging 0.99
IGL02309:Lgr4 APN 2 109,842,880 (GRCm39) utr 3 prime probably benign
IGL02511:Lgr4 APN 2 109,841,617 (GRCm39) missense probably benign 0.06
IGL02604:Lgr4 APN 2 109,841,658 (GRCm39) missense probably damaging 1.00
IGL02648:Lgr4 APN 2 109,842,718 (GRCm39) missense probably damaging 1.00
IGL02795:Lgr4 APN 2 109,838,555 (GRCm39) splice site probably benign
IGL02899:Lgr4 APN 2 109,748,598 (GRCm39) missense probably damaging 0.99
R0003:Lgr4 UTSW 2 109,828,010 (GRCm39) critical splice donor site probably null
R0200:Lgr4 UTSW 2 109,801,035 (GRCm39) critical splice acceptor site probably null
R0314:Lgr4 UTSW 2 109,821,438 (GRCm39) splice site probably benign
R0482:Lgr4 UTSW 2 109,838,437 (GRCm39) missense probably damaging 1.00
R0491:Lgr4 UTSW 2 109,837,626 (GRCm39) splice site probably benign
R0517:Lgr4 UTSW 2 109,841,665 (GRCm39) missense probably damaging 1.00
R0546:Lgr4 UTSW 2 109,829,766 (GRCm39) missense probably damaging 0.98
R0658:Lgr4 UTSW 2 109,842,132 (GRCm39) missense possibly damaging 0.83
R1367:Lgr4 UTSW 2 109,821,480 (GRCm39) missense probably damaging 0.98
R1864:Lgr4 UTSW 2 109,841,742 (GRCm39) missense possibly damaging 0.93
R1977:Lgr4 UTSW 2 109,842,273 (GRCm39) missense probably damaging 1.00
R2239:Lgr4 UTSW 2 109,842,738 (GRCm39) missense probably damaging 1.00
R2380:Lgr4 UTSW 2 109,842,738 (GRCm39) missense probably damaging 1.00
R2383:Lgr4 UTSW 2 109,830,960 (GRCm39) missense probably damaging 1.00
R2997:Lgr4 UTSW 2 109,833,862 (GRCm39) missense probably benign 0.30
R3707:Lgr4 UTSW 2 109,801,099 (GRCm39) missense probably damaging 0.99
R3803:Lgr4 UTSW 2 109,838,542 (GRCm39) missense probably benign 0.10
R3804:Lgr4 UTSW 2 109,838,542 (GRCm39) missense probably benign 0.10
R3843:Lgr4 UTSW 2 109,827,118 (GRCm39) splice site probably benign
R4030:Lgr4 UTSW 2 109,820,096 (GRCm39) missense probably benign 0.06
R4513:Lgr4 UTSW 2 109,842,361 (GRCm39) missense possibly damaging 0.93
R4777:Lgr4 UTSW 2 109,827,027 (GRCm39) missense probably damaging 0.98
R4912:Lgr4 UTSW 2 109,836,847 (GRCm39) critical splice acceptor site probably null
R4994:Lgr4 UTSW 2 109,842,283 (GRCm39) missense probably damaging 0.99
R5106:Lgr4 UTSW 2 109,827,940 (GRCm39) missense probably damaging 0.97
R5131:Lgr4 UTSW 2 109,842,678 (GRCm39) missense probably benign
R5152:Lgr4 UTSW 2 109,830,948 (GRCm39) missense probably damaging 1.00
R5753:Lgr4 UTSW 2 109,832,857 (GRCm39) nonsense probably null
R5860:Lgr4 UTSW 2 109,821,496 (GRCm39) missense probably damaging 0.96
R5914:Lgr4 UTSW 2 109,748,617 (GRCm39) missense possibly damaging 0.78
R6145:Lgr4 UTSW 2 109,837,588 (GRCm39) nonsense probably null
R6263:Lgr4 UTSW 2 109,842,243 (GRCm39) missense possibly damaging 0.95
R6400:Lgr4 UTSW 2 109,821,478 (GRCm39) missense probably damaging 0.98
R6924:Lgr4 UTSW 2 109,842,784 (GRCm39) missense probably damaging 1.00
R7171:Lgr4 UTSW 2 109,831,314 (GRCm39) missense probably benign 0.11
R7326:Lgr4 UTSW 2 109,826,974 (GRCm39) nonsense probably null
R7593:Lgr4 UTSW 2 109,829,801 (GRCm39) missense probably damaging 1.00
R7659:Lgr4 UTSW 2 109,827,111 (GRCm39) missense probably damaging 1.00
R7707:Lgr4 UTSW 2 109,827,936 (GRCm39) critical splice acceptor site probably null
R7936:Lgr4 UTSW 2 109,836,863 (GRCm39) missense probably damaging 1.00
R7940:Lgr4 UTSW 2 109,836,858 (GRCm39) missense probably damaging 1.00
R8062:Lgr4 UTSW 2 109,831,282 (GRCm39) missense probably damaging 1.00
R8153:Lgr4 UTSW 2 109,830,645 (GRCm39) missense probably damaging 0.99
R9225:Lgr4 UTSW 2 109,842,485 (GRCm39) missense probably benign
R9434:Lgr4 UTSW 2 109,836,907 (GRCm39) missense probably benign
R9557:Lgr4 UTSW 2 109,827,084 (GRCm39) missense probably damaging 1.00
X0053:Lgr4 UTSW 2 109,841,782 (GRCm39) missense possibly damaging 0.52
Posted On 2014-05-07