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Lrp6
Gene Detail
Symbol

Name
ID
Lrp6
low density lipoprotein receptor-related protein 6
MGI:1298218
Synonyms
Cd, Gw, ska26, skam26Jus, skax26
Feature Type
protein coding gene
Genetic Map
Chromosome 6
65.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr6:134446476-134566965 bp, - strand
From VEGA annotation of GRCm38

  120490 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1747  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: low density lipoprotein receptor-related protein, 5/6 types
Gene Tree: Lrp6

Human
homologs
Human Homolog LRP6, low density lipoprotein receptor-related protein 6
NCBI Gene ID 4040
neXtProt AC  NX_O75581
Human Synonyms  ADCAD2
Human Chr (Location)  12p13.2; chr12:12116025-12266877 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human LRP6
Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Chemically induced (ENU)(3) Gene trapped(18) Spontaneous(2) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Animals homozygous for this mutation exhibit partial embryonic lethality, growth retardation, crooked tail, abnormal vertebrae, small skull with occasional bent nose, absence of the third molars and small and/or unerupted lower incisors. Heterozygotes exhibit a crooked tail and abnormal vertebrae.
 
Human Diseases Modeled Using Mouse Lrp6 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)
Interactions
Lrp6 interacts with 403 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (169 annotations)
Process anterior/posterior pattern specification, axis elongation, ...
Component caveola, cell, ...
Function apolipoprotein binding, coreceptor activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (39 records)
Data Summary: Results (268)    Tissues (160)    Images (61)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 190
Northern blot 3
Western blot 13
RT-PCR 56
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) Genomic(2) cDNA(15) Primer pair(7)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021240 (Evidence)
Ensembl Gene ModelENSMUSG00000030201 (Evidence)
Entrez Gene16974 (Evidence)
Consensus CDS ProjectCCDS39678.1
International Mouse Knockout Project StatusLrp6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021240 VEGA Gene Model | MGI Sequence Detail 120490 C57BL/6J ±  kb
transcript OTTMUST00000050309 VEGA | MGI Sequence Detail 9368 Not Applicable 
polypeptide OTTMUSP00000023469 VEGA | MGI Sequence Detail 1613 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(4) UniProt(4)
Polymorphisms
SNPs within 2kb(1482 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR000033 LDLR class B repeat
InterPro IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
InterPro IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
InterPro IPR017049 Low density lipoprotein receptor-related protein, 5/6
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
Protein Ontology PR:000009927 low-density lipoprotein receptor-related protein 6
References
(Earliest) J:13045 Morgan WC, A new crooked tail mutation involving distinctive pleiotropism. J Genet. 1954;52:354-373
(Latest) J:206979 Allache R, et al., Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway. Hum Mol Genet. 2014 Apr 1;23(7):1687-99
All references(135)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1829, MGI:3043025, MGI:3577498, MGI:88317

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory