Incidental Mutation 'IGL03350:Lgr5'
ID 419646
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03350
Quality Score
Status
Chromosome 10
Chromosomal Location 115286219-115423685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115307893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 255 (T255K)
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: T255K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: T255K

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: T255K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: T255K

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 possibly damaging
Transcript: ENSMUST00000173740
AA Change: T183K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140
AA Change: T183K

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,589 (GRCm39) Y300* probably null Het
Adgre1 T A 17: 57,708,908 (GRCm39) V33E probably benign Het
AI987944 A G 7: 41,042,661 (GRCm39) probably benign Het
Atp4a T C 7: 30,420,292 (GRCm39) L813P probably damaging Het
Blmh A G 11: 76,862,774 (GRCm39) N396D probably damaging Het
Brat1 T C 5: 140,691,750 (GRCm39) L9P probably damaging Het
Ccdc171 T C 4: 83,599,615 (GRCm39) I810T possibly damaging Het
Clec2m C A 6: 129,307,986 (GRCm39) V28L probably benign Het
Cyp2a22 T C 7: 26,634,279 (GRCm39) T292A possibly damaging Het
Ecm2 C T 13: 49,674,420 (GRCm39) T280I probably benign Het
Fa2h C T 8: 112,075,928 (GRCm39) V232I probably benign Het
Fbxw24 T C 9: 109,436,081 (GRCm39) D317G probably damaging Het
Flt4 C A 11: 49,525,620 (GRCm39) S722* probably null Het
Fryl T C 5: 73,290,649 (GRCm39) Q85R probably damaging Het
Gm3239 A G 14: 15,882,083 (GRCm39) R188G possibly damaging Het
Hspa13 A T 16: 75,554,717 (GRCm39) S456R probably damaging Het
Htr1b T C 9: 81,514,175 (GRCm39) Y144C probably damaging Het
Hydin A G 8: 111,038,856 (GRCm39) H198R possibly damaging Het
Krt78 A T 15: 101,854,952 (GRCm39) M953K probably benign Het
Lrp2 T A 2: 69,268,797 (GRCm39) D4162V probably damaging Het
Map3k2 A G 18: 32,345,201 (GRCm39) D342G probably damaging Het
Miip A G 4: 147,946,979 (GRCm39) V258A probably benign Het
Muc6 T C 7: 141,238,324 (GRCm39) H52R probably damaging Het
Nfs1 T C 2: 155,969,660 (GRCm39) E329G probably benign Het
Npsr1 T C 9: 24,009,605 (GRCm39) V37A probably benign Het
Or1ak2 T C 2: 36,827,595 (GRCm39) Y155H probably damaging Het
Or1e17 A T 11: 73,831,664 (GRCm39) L197F probably damaging Het
Or5aq1b A C 2: 86,901,904 (GRCm39) D191E probably damaging Het
Pex16 T A 2: 92,207,842 (GRCm39) M98K probably damaging Het
Pla2r1 C T 2: 60,285,517 (GRCm39) C699Y probably damaging Het
Plcd4 A T 1: 74,588,460 (GRCm39) D103V probably damaging Het
Pnpla1 A G 17: 29,095,966 (GRCm39) D129G probably damaging Het
Rad23a T C 8: 85,564,108 (GRCm39) E265G possibly damaging Het
Rbm11 C T 16: 75,397,696 (GRCm39) P209S probably benign Het
Ribc2 T A 15: 85,019,703 (GRCm39) W162R probably damaging Het
Rnf4 A G 5: 34,504,204 (GRCm39) E32G possibly damaging Het
Rpe65 A T 3: 159,320,154 (GRCm39) S269C possibly damaging Het
Slc7a14 T A 3: 31,291,558 (GRCm39) Y240F probably benign Het
Sorbs2 C T 8: 46,258,844 (GRCm39) P1047L probably damaging Het
Ttn T C 2: 76,580,166 (GRCm39) I23576V probably damaging Het
Usp24 T G 4: 106,228,276 (GRCm39) Y780* probably null Het
Wee2 T C 6: 40,426,665 (GRCm39) S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 (GRCm39) T126A probably benign Het
Zpld1 A G 16: 55,061,692 (GRCm39) probably benign Het
Zup1 G A 10: 33,804,107 (GRCm39) R456C 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
anger UTSW 10 115,302,251 (GRCm39) missense probably benign 0.03
ANU05:Lgr5 UTSW 10 115,314,439 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02