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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
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
Homology
more
  • Human Ortholog
    LRP6, LDL receptor related protein 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LRP6, LDL receptor related protein 6
    Orthology source: HomoloGene
  • Synonyms
    ADCAD2
  • Links
    NCBI Gene ID: 4040
    neXtProt AC: NX_O75581

  • Chr Location
    12p13.2; chr12:12116025-12267007 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1; NAFLD1   OMIM: 613282 View 1 model
Neural Tube Defects, Folate-Sensitive; NTDFS   OMIM: 601634 View 1 model
       Coronary Artery Disease, Autosomal Dominant 2; ADCAD2   OMIM: 610947
Click on a disease name to see all genes associated with that disease.

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

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

Click cells to view annotations.
  • All Mutations and Alleles
    31
  • Chemically induced (ENU)
    3
  • Gene trapped
    18
  • Spontaneous
    2
  • Targeted
    8
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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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
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  • SNPs within 2kb
    1482 from dbSNP Build 137
Protein
Information
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  • UniProt
    5 Sequences
  • InterPro Domains
    IPR000742 EGF-like domain
    IPR000033 LDLR class B repeat
    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
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  • All nucleic 24
    Genomic 2
    cDNA 15
    Primer pair 7

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1829, MGI:3043025, MGI:3577498, MGI:88317
References
more
  • Summaries
    All 148
    Developmental Gene Expression 42
    Diseases 3
    Gene Ontology 45
    Phenotypes 77
  • Earliest
    J:13045 Morgan WC, A new crooked tail mutation involving distinctive pleiotropism. J Genet. 1954;52:354-373
  • Latest
    J:225450 Wang S, et al., Nonalcoholic fatty liver disease induced by noncanonical Wnt and its rescue by Wnt3a. FASEB J. 2015 Aug;29(8):3436-45

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
02/02/2016
MGI 6.02
The Jackson Laboratory