Incidental Mutation 'ANU05:Lgr5'
ID 262501
Institutional Source Beutler Lab
Gene Symbol Lgr5
Ensembl Gene ENSMUSG00000020140
Gene Name leucine rich repeat containing G protein coupled receptor 5
Synonyms Gpr49
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 115286219-115423685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115314439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 166 (H166R)
Ref Sequence ENSEMBL: ENSMUSP00000133860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020350] [ENSMUST00000172806] [ENSMUST00000173740]
AlphaFold Q9Z1P4
Predicted Effect probably damaging
Transcript: ENSMUST00000020350
AA Change: H166R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: H166R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 33 70 1.43e-5 SMART
LRR 64 88 1.41e2 SMART
LRR_TYP 89 112 3.44e-4 SMART
LRR_TYP 113 136 9.88e-5 SMART
LRR_TYP 137 160 9.73e-4 SMART
LRR_TYP 161 184 5.21e-4 SMART
LRR 185 208 6.22e0 SMART
LRR_TYP 209 232 3.89e-3 SMART
LRR 233 255 9.75e0 SMART
LRR_TYP 256 279 1.38e-3 SMART
Blast:LRR 281 303 2e-6 BLAST
Blast:LRR 304 328 1e-5 BLAST
LRR_TYP 351 374 1.56e-2 SMART
LRR 375 396 1.09e2 SMART
LRR_TYP 397 420 7.26e-3 SMART
LRR 421 444 2.86e-1 SMART
low complexity region 518 533 N/A INTRINSIC
Pfam:7tm_1 574 820 9.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149008
Predicted Effect probably damaging
Transcript: ENSMUST00000172806
AA Change: H166R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: H166R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 33 70 1.43e-5 SMART
LRR 64 88 1.41e2 SMART
LRR_TYP 89 112 3.44e-4 SMART
LRR_TYP 113 136 9.88e-5 SMART
LRR_TYP 137 160 9.73e-4 SMART
LRR_TYP 161 184 5.21e-4 SMART
LRR 185 208 6.22e0 SMART
LRR_TYP 209 232 3.89e-3 SMART
LRR 233 255 9.75e0 SMART
LRR 256 279 6.57e-1 SMART
Blast:LRR 280 304 1e-5 BLAST
LRR_TYP 327 350 1.56e-2 SMART
LRR 351 372 1.09e2 SMART
LRR_TYP 373 396 7.26e-3 SMART
LRR 397 420 2.86e-1 SMART
low complexity region 494 509 N/A INTRINSIC
Pfam:7tm_1 550 796 8.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173740
SMART Domains Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 33 70 1.43e-5 SMART
LRR 64 88 1.41e2 SMART
LRR_TYP 89 112 3.44e-4 SMART
LRR_TYP 113 136 9.88e-5 SMART
LRR_TYP 137 160 9.08e-4 SMART
LRR 161 183 9.75e0 SMART
LRR_TYP 184 207 1.38e-3 SMART
Blast:LRR 209 231 1e-6 BLAST
Blast:LRR 232 256 1e-5 BLAST
LRR_TYP 279 302 1.56e-2 SMART
LRR 303 324 1.09e2 SMART
LRR_TYP 325 348 7.26e-3 SMART
LRR 349 372 2.86e-1 SMART
low complexity region 446 461 N/A INTRINSIC
Pfam:7tm_1 502 748 7.4e-16 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(7)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign Het
Other mutations in Lgr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Lgr5 APN 10 115,290,369 (GRCm39) missense possibly damaging 0.69
IGL01291:Lgr5 APN 10 115,314,439 (GRCm39) missense probably damaging 1.00
IGL01432:Lgr5 APN 10 115,288,997 (GRCm39) missense probably damaging 1.00
IGL01778:Lgr5 APN 10 115,298,607 (GRCm39) missense probably damaging 0.97
IGL01936:Lgr5 APN 10 115,288,319 (GRCm39) missense probably damaging 1.00
IGL02079:Lgr5 APN 10 115,288,099 (GRCm39) missense probably damaging 1.00
IGL02134:Lgr5 APN 10 115,288,763 (GRCm39) missense possibly damaging 0.89
IGL03083:Lgr5 APN 10 115,288,937 (GRCm39) missense probably benign 0.26
IGL03350:Lgr5 APN 10 115,307,893 (GRCm39) missense probably damaging 0.99
anger UTSW 10 115,302,251 (GRCm39) missense probably benign 0.03
R0378:Lgr5 UTSW 10 115,290,404 (GRCm39) missense probably damaging 1.00
R0788:Lgr5 UTSW 10 115,288,902 (GRCm39) missense probably damaging 0.99
R1119:Lgr5 UTSW 10 115,296,716 (GRCm39) critical splice donor site probably null
R1321:Lgr5 UTSW 10 115,314,362 (GRCm39) missense probably damaging 1.00
R1880:Lgr5 UTSW 10 115,288,184 (GRCm39) missense probably damaging 1.00
R1985:Lgr5 UTSW 10 115,331,150 (GRCm39) splice site probably benign
R2434:Lgr5 UTSW 10 115,423,311 (GRCm39) missense probably benign
R3055:Lgr5 UTSW 10 115,302,028 (GRCm39) splice site probably benign
R3910:Lgr5 UTSW 10 115,423,368 (GRCm39) missense possibly damaging 0.93
R4686:Lgr5 UTSW 10 115,294,648 (GRCm39) intron probably benign
R4862:Lgr5 UTSW 10 115,298,669 (GRCm39) missense probably damaging 1.00
R4866:Lgr5 UTSW 10 115,288,590 (GRCm39) missense probably benign 0.00
R5089:Lgr5 UTSW 10 115,314,328 (GRCm39) missense probably damaging 1.00
R5118:Lgr5 UTSW 10 115,288,244 (GRCm39) missense possibly damaging 0.88
R5375:Lgr5 UTSW 10 115,314,469 (GRCm39) missense probably benign 0.00
R5537:Lgr5 UTSW 10 115,292,594 (GRCm39) missense probably benign 0.00
R5583:Lgr5 UTSW 10 115,314,409 (GRCm39) missense probably benign 0.32
R6312:Lgr5 UTSW 10 115,288,829 (GRCm39) missense probably damaging 1.00
R6362:Lgr5 UTSW 10 115,314,430 (GRCm39) missense probably damaging 1.00
R6605:Lgr5 UTSW 10 115,293,772 (GRCm39) missense possibly damaging 0.69
R6689:Lgr5 UTSW 10 115,302,513 (GRCm39) missense probably damaging 0.99
R6705:Lgr5 UTSW 10 115,423,193 (GRCm39) missense probably damaging 0.96
R6925:Lgr5 UTSW 10 115,302,251 (GRCm39) missense probably benign 0.03
R7063:Lgr5 UTSW 10 115,292,639 (GRCm39) missense probably damaging 1.00
R7261:Lgr5 UTSW 10 115,423,370 (GRCm39) missense possibly damaging 0.96
R7274:Lgr5 UTSW 10 115,288,410 (GRCm39) missense probably damaging 0.99
R7458:Lgr5 UTSW 10 115,293,660 (GRCm39) critical splice donor site probably null
R7569:Lgr5 UTSW 10 115,298,661 (GRCm39) missense probably damaging 1.00
R7770:Lgr5 UTSW 10 115,307,899 (GRCm39) missense probably damaging 0.98
R7936:Lgr5 UTSW 10 115,288,952 (GRCm39) missense probably damaging 0.99
R7964:Lgr5 UTSW 10 115,288,079 (GRCm39) missense probably benign 0.00
R8085:Lgr5 UTSW 10 115,311,102 (GRCm39) missense probably benign
R8537:Lgr5 UTSW 10 115,288,307 (GRCm39) missense probably damaging 1.00
R8703:Lgr5 UTSW 10 115,288,610 (GRCm39) missense probably benign 0.01
R8704:Lgr5 UTSW 10 115,288,610 (GRCm39) missense probably benign 0.01
R8706:Lgr5 UTSW 10 115,288,610 (GRCm39) missense probably benign 0.01
R8707:Lgr5 UTSW 10 115,288,610 (GRCm39) missense probably benign 0.01
R9019:Lgr5 UTSW 10 115,314,454 (GRCm39) missense probably damaging 1.00
R9043:Lgr5 UTSW 10 115,314,343 (GRCm39) missense probably damaging 1.00
R9215:Lgr5 UTSW 10 115,311,085 (GRCm39) missense probably damaging 0.99
R9217:Lgr5 UTSW 10 115,423,349 (GRCm39) missense probably benign 0.33
R9427:Lgr5 UTSW 10 115,288,913 (GRCm39) missense probably damaging 1.00
R9631:Lgr5 UTSW 10 115,302,513 (GRCm39) missense probably damaging 0.99
R9738:Lgr5 UTSW 10 115,288,527 (GRCm39) missense probably damaging 1.00
Z1176:Lgr5 UTSW 10 115,296,781 (GRCm39) missense probably damaging 0.98
Z1177:Lgr5 UTSW 10 115,292,574 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCTCCATTCAAGTTTTGAGGTCC -3'
(R):5'- GCTCTGCCTAATGAGCACATGCAAC -3'

Sequencing Primer
(F):5'- TGAGGTCCATCACTTGAAGGC -3'
(R):5'- TGAGCACATGCAACTTCCAG -3'
Posted On 2015-02-04