Incidental Mutation 'IGL02648:Lgr4'
ID 302028
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 # IGL02648
Quality Score
Status
Chromosome 2
Chromosomal Location 109747992-109844602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 109842718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 877 (T877K)
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: T901K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: T901K

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: T877K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: T877K

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Arhgdib T C 6: 136,910,647 (GRCm39) D38G probably damaging Het
Bbox1 T G 2: 110,135,871 (GRCm39) D36A probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Cdadc1 C A 14: 59,823,812 (GRCm39) D227Y probably damaging Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 (GRCm39) N493S probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pard6b A G 2: 167,940,847 (GRCm39) Q278R probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Tmem259 G A 10: 79,813,651 (GRCm39) P443S probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign 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
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 2015-04-16