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Lrp6 Gene Detail
Summary
  • Symbol
    Lrp6
  • Name
    low density lipoprotein receptor-related protein 6
  • Synonyms
    Cd, Gw, ska26, skam26Jus, skax26
  • Feature Type
    protein coding gene
  • IDs
    MGI:1298218
    NCBI Gene: 16974
  • Gene Overview
    MyGene.info: LRP6
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:134446476-134566965 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      120490 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 65.37 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    LRP6, LDL receptor related protein 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LRP6, LDL receptor related protein 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADCAD2, STHAG7
  • Links
    NCBI Gene ID: 4040
    neXtProt AC: NX_O75581
    UniProt: O75581

  • Chr Location
    12p13.2; chr12:12116025-12267021 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Lrp6 mouse models; 1 with human LRP6 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    124 phenotypes from 11 alleles in 22 genetic backgrounds
    63 phenotypes from multigenic genotypes
    2 images
    85 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
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    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1477 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR000742 EGF-like domain
      IPR000033 LDLR class B repeat
      IPR036055 LDL receptor-like superfamily
      IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
      IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
      IPR017049 Low density lipoprotein receptor-related protein 5/6
      IPR011042 Six-bladed beta-propeller, TolB-like
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 2
      cDNA 16
      Primer pair 7
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1829, MGI:3043025, MGI:3577498, MGI:88317
    References
    more
    • Summaries
      All 183
      Developmental Gene Expression 47
      Diseases 4
      Gene Ontology 47
      Phenotypes 85
    • Earliest
      J:13045 Morgan WC, A new crooked tail mutation involving distinctive pleiotropism. J Genet. 1954;52:354-373
    • Latest
      J:261495 Swafford D, et al., Canonical Wnt Signaling in CD11c(+) APCs Regulates Microbiota-Induced Inflammation and Immune Cell Homeostasis in the Colon. J Immunol. 2018 May 1;200(9):3259-3268

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory