Incidental Mutation 'R5860:Lgr4'
ID 453822
Institutional Source Beutler Lab
Gene Symbol Lgr4
Ensembl Gene ENSMUSG00000050199
Gene Name leucine-rich repeat-containing G protein-coupled receptor 4
Synonyms Gpr48, A330106J01Rik, A930009A08Rik
MMRRC Submission 044072-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5860 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 109747992-109844602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109821496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 126 (R126H)
Ref Sequence ENSEMBL: ENSMUSP00000047325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046548] [ENSMUST00000111037]
AlphaFold A2ARI4
Predicted Effect probably damaging
Transcript: ENSMUST00000046548
AA Change: R126H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: R126H

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 possibly damaging
Transcript: ENSMUST00000111037
AA Change: R102H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: R102H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152584
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.8%
Validation Efficiency 97% (75/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568A12Rik A G 1: 34,524,661 (GRCm39) noncoding transcript Het
A2ml1 T C 6: 128,518,024 (GRCm39) T1421A probably benign Het
Actr8 T A 14: 29,708,242 (GRCm39) Y150* probably null Het
Adamts1 A G 16: 85,595,432 (GRCm39) C249R probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Atf6 A T 1: 170,669,344 (GRCm39) L119H probably damaging Het
Atf6 G A 1: 170,669,345 (GRCm39) L119F possibly damaging Het
B3gat2 G A 1: 23,854,400 (GRCm39) W33* probably null Het
Bach2 A G 4: 32,580,268 (GRCm39) D831G probably damaging Het
Ccnk A T 12: 108,153,466 (GRCm39) I76F probably damaging Het
Cdyl A C 13: 36,042,066 (GRCm39) K368T possibly damaging Het
Chi3l1 A G 1: 134,112,909 (GRCm39) T114A probably benign Het
Cnppd1 A G 1: 75,113,131 (GRCm39) V379A probably benign Het
Col11a2 C A 17: 34,283,159 (GRCm39) probably benign Het
Creb3l1 T C 2: 91,854,399 (GRCm39) S18G probably benign Het
Crybg3 A C 16: 59,385,632 (GRCm39) D197E probably damaging Het
Cryga T C 1: 65,142,527 (GRCm39) probably benign Het
Cthrc1 T C 15: 38,950,080 (GRCm39) C146R probably damaging Het
Cyp2c39 A T 19: 39,525,270 (GRCm39) D191V probably damaging Het
Dchs1 C T 7: 105,421,242 (GRCm39) A393T probably damaging Het
Dhx30 G A 9: 109,913,645 (GRCm39) T1126I probably damaging Het
Dock2 C T 11: 34,206,562 (GRCm39) G1345R probably damaging Het
Dsc1 T C 18: 20,228,081 (GRCm39) E425G probably damaging Het
Dynlt2b A G 16: 32,247,614 (GRCm39) Y143C probably damaging Het
Exosc8 C T 3: 54,642,463 (GRCm39) probably benign Het
Fat1 C T 8: 45,504,166 (GRCm39) A4553V probably benign Het
Flnb T A 14: 7,931,135 (GRCm38) L2119Q probably damaging Het
Fnbp4 T A 2: 90,587,826 (GRCm39) D401E probably benign Het
Glyctk T C 9: 106,032,906 (GRCm39) E369G possibly damaging Het
Gm14149 C A 2: 151,066,225 (GRCm39) noncoding transcript Het
Golga4 T C 9: 118,387,174 (GRCm39) L1432P probably damaging Het
Gtpbp4 A T 13: 9,023,196 (GRCm39) S623T probably benign Het
Insc A C 7: 114,390,383 (GRCm39) S85R probably damaging Het
M1ap T A 6: 82,980,795 (GRCm39) L227Q probably damaging Het
Marchf7 T C 2: 60,067,187 (GRCm39) I569T probably damaging Het
Mbd1 C A 18: 74,409,768 (GRCm39) C339* probably null Het
Moxd2 T A 6: 40,857,341 (GRCm39) Y473F probably damaging Het
Mrgpra6 T C 7: 46,839,099 (GRCm39) H2R probably benign Het
Mtus1 T G 8: 41,529,303 (GRCm39) L742F probably damaging Het
Nek11 A G 9: 105,270,160 (GRCm39) Y21H probably benign Het
Notch4 G T 17: 34,801,392 (GRCm39) C1080F probably damaging Het
Nsd3 C A 8: 26,156,107 (GRCm39) P558Q probably damaging Het
Oas1e A T 5: 120,930,015 (GRCm39) S168T probably benign Het
Ogfr T C 2: 180,234,285 (GRCm39) S119P probably damaging Het
Or2y15 A G 11: 49,350,563 (GRCm39) D19G probably damaging Het
Or8g20 T A 9: 39,395,767 (GRCm39) M261L probably benign Het
Pde4dip A G 3: 97,631,504 (GRCm39) I1135T possibly damaging Het
Prex1 G A 2: 166,486,604 (GRCm39) probably benign Het
Ptprf T C 4: 118,068,486 (GRCm39) probably benign Het
Rapsn T C 2: 90,875,859 (GRCm39) V359A probably damaging Het
Ric1 A G 19: 29,577,245 (GRCm39) S1050G possibly damaging Het
Rnft2 A G 5: 118,366,868 (GRCm39) I290T possibly damaging Het
Senp7 C A 16: 55,975,722 (GRCm39) A476E possibly damaging Het
Serpinh1 G A 7: 98,995,571 (GRCm39) S337L probably damaging Het
Slc5a12 C A 2: 110,427,969 (GRCm39) A8D probably benign Het
Smg5 T A 3: 88,250,214 (GRCm39) C109S probably damaging Het
Speer4b T C 5: 27,705,226 (GRCm39) H49R possibly damaging Het
Tas2r109 T C 6: 132,957,664 (GRCm39) I89V probably benign Het
Tet1 A G 10: 62,648,399 (GRCm39) probably null Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tpgs1 G A 10: 79,505,545 (GRCm39) G101D probably damaging Het
Trim13 T G 14: 61,842,188 (GRCm39) S68R probably damaging Het
Vwf A G 6: 125,620,053 (GRCm39) N1577S Het
Vwf G T 6: 125,656,228 (GRCm39) probably benign Het
Xpr1 T C 1: 155,207,868 (GRCm39) probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zftraf1 A T 15: 76,532,391 (GRCm39) I239N probably damaging Het
Zftraf1 T C 15: 76,540,615 (GRCm39) Y101C probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Lgr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Lgr4 APN 2 109,841,635 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers
Posted On 2017-02-10