Incidental Mutation 'R6145:Lgr4'
ID 488791
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 044292-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 109747992-109844602 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 109837588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 427 (L427*)
Ref Sequence ENSEMBL: ENSMUSP00000106666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046548] [ENSMUST00000111037]
AlphaFold A2ARI4
Predicted Effect probably null
Transcript: ENSMUST00000046548
AA Change: L451*
SMART Domains Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: L451*

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 null
Transcript: ENSMUST00000111037
AA Change: L427*
SMART Domains Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: L427*

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 95.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T A 1: 85,980,664 (GRCm39) probably null Het
Abca8b A G 11: 109,864,634 (GRCm39) V316A probably benign Het
Acad10 A T 5: 121,760,096 (GRCm39) V999D probably damaging Het
Acot8 A G 2: 164,644,985 (GRCm39) V66A probably benign Het
Ankrd11 T C 8: 123,619,400 (GRCm39) H1484R probably damaging Het
Anxa6 A G 11: 54,885,730 (GRCm39) F405S probably damaging Het
Asmt G A X: 169,108,398 (GRCm39) V101I probably damaging Het
Atp1a2 C T 1: 172,114,805 (GRCm39) V327I probably damaging Het
Brdt A G 5: 107,525,865 (GRCm39) E906G possibly damaging Het
Cacna1g A T 11: 94,353,087 (GRCm39) C313S probably damaging Het
Camk2d T C 3: 126,599,507 (GRCm39) I329T probably benign Het
Cavin4 A T 4: 48,663,794 (GRCm39) H58L probably damaging Het
Ccdc78 C A 17: 26,008,039 (GRCm39) P317T probably benign Het
Cdc16 T G 8: 13,817,573 (GRCm39) Y295D possibly damaging Het
Cdyl2 T A 8: 117,321,717 (GRCm39) N270I probably damaging Het
Cfap221 T A 1: 119,912,546 (GRCm39) I114F possibly damaging Het
Dmxl1 A G 18: 50,045,833 (GRCm39) E2414G possibly damaging Het
Dnaaf9 T C 2: 130,620,393 (GRCm39) I247V probably benign Het
Dnah1 C A 14: 31,022,927 (GRCm39) R1070L probably benign Het
Dnah14 T C 1: 181,493,982 (GRCm39) S1713P probably benign Het
Dock10 C A 1: 80,553,621 (GRCm39) G602* probably null Het
Ep400 A T 5: 110,904,569 (GRCm39) V10D possibly damaging Het
Epas1 T C 17: 87,136,857 (GRCm39) C807R probably benign Het
Esrrb C T 12: 86,552,673 (GRCm39) P200L probably benign Het
Fbxw26 T C 9: 109,561,691 (GRCm39) I168V probably benign Het
Fsip2 A T 2: 82,824,112 (GRCm39) H6615L possibly damaging Het
Galk2 A T 2: 125,788,762 (GRCm39) Q272L possibly damaging Het
Gas7 A C 11: 67,520,438 (GRCm39) T43P probably damaging Het
Gm5134 A T 10: 75,831,673 (GRCm39) I371F probably damaging Het
Gpr31b C T 17: 13,270,266 (GRCm39) R301Q possibly damaging Het
Grk1 T A 8: 13,455,765 (GRCm39) Y216* probably null Het
Grm5 T A 7: 87,675,809 (GRCm39) M441K probably damaging Het
Heatr6 A G 11: 83,656,962 (GRCm39) E408G probably damaging Het
Hoxc9 G T 15: 102,892,391 (GRCm39) K201N probably damaging Het
Igsf10 T A 3: 59,239,077 (GRCm39) Y368F possibly damaging Het
Il2ra A T 2: 11,685,057 (GRCm39) D131V probably damaging Het
Imp4 A G 1: 34,479,177 (GRCm39) E19G probably benign Het
Kcnk18 T C 19: 59,224,039 (GRCm39) *395Q probably null Het
Kdm6b A T 11: 69,295,852 (GRCm39) L805Q unknown Het
Myt1l G A 12: 29,882,380 (GRCm39) S525N unknown Het
Nasp G A 4: 116,468,274 (GRCm39) T237I probably benign Het
Nell2 G T 15: 95,371,442 (GRCm39) Q98K probably damaging Het
Nfasc C T 1: 132,562,455 (GRCm39) G107R probably damaging Het
Nsun4 A G 4: 115,897,403 (GRCm39) S203P probably damaging Het
Or1m1 T G 9: 18,666,865 (GRCm39) D22A probably benign Het
Or7g35 T C 9: 19,496,184 (GRCm39) V117A probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pde10a T C 17: 9,147,949 (GRCm39) V366A probably damaging Het
Pdxk T A 10: 78,279,625 (GRCm39) D250V probably benign Het
Pih1d1 T A 7: 44,808,468 (GRCm39) I179N probably damaging Het
Plaa T A 4: 94,472,229 (GRCm39) I294F probably damaging Het
Pmel C A 10: 128,551,804 (GRCm39) P213T probably damaging Het
Pom121l2 A T 13: 22,166,472 (GRCm39) R248* probably null Het
Pou2f1 T C 1: 165,703,002 (GRCm39) probably benign Het
Ppm1j G A 3: 104,688,695 (GRCm39) R98H probably damaging Het
Prkdc C T 16: 15,589,937 (GRCm39) P2600L probably damaging Het
Prom1 T C 5: 44,186,991 (GRCm39) N422S probably benign Het
Pspn C T 17: 57,306,467 (GRCm39) C154Y probably damaging Het
Ptdss1 T C 13: 67,120,701 (GRCm39) probably null Het
Rapgef1 A G 2: 29,626,678 (GRCm39) Y993C probably damaging Het
Scrn2 A C 11: 96,923,679 (GRCm39) T219P probably benign Het
Sec23ip T G 7: 128,380,208 (GRCm39) S874R probably damaging Het
Septin4 G A 11: 87,476,072 (GRCm39) probably null Het
Slc15a3 C T 19: 10,834,615 (GRCm39) L499F probably damaging Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Sra1 A G 18: 36,800,628 (GRCm39) M193T probably damaging Het
Srsf4 G T 4: 131,627,605 (GRCm39) probably benign Het
Syne1 T C 10: 5,002,750 (GRCm39) D8055G probably damaging Het
Syne4 T A 7: 30,015,988 (GRCm39) probably null Het
Tbc1d24 C A 17: 24,427,203 (GRCm39) G253V probably damaging Het
Tbck T A 3: 132,437,976 (GRCm39) I467N probably damaging Het
Tln1 T A 4: 43,538,030 (GRCm39) M1857L possibly damaging Het
Ttll2 T C 17: 7,619,031 (GRCm39) R299G probably benign Het
Ugt2b36 T G 5: 87,214,072 (GRCm39) E524A probably benign Het
Vmn2r124 C T 17: 18,283,113 (GRCm39) T269I probably benign Het
Vmn2r4 A G 3: 64,314,364 (GRCm39) F206L probably benign Het
Zfp346 A G 13: 55,263,387 (GRCm39) K156R 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
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
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 PCR Primer
(F):5'- GCACCTCCATAGAGATGTTCG -3'
(R):5'- AGGACATTTCCAGTATCTTCTTGC -3'

Sequencing Primer
(F):5'- CTCCATAGAGATGTTCGCATGTGAC -3'
(R):5'- AATTCATGCTCTTGACATCTGTGG -3'
Posted On 2017-10-10