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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:134423439-134543876 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 65.37 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3404 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1298218
 protein coding gene Chr6:134423439-134543928 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031404
 protein coding gene Chr6:138703554-138829967 (-)
A/J MGP_AJ_G0031380
 protein coding gene Chr6:133277328-133400450 (-)
AKR/J MGP_AKRJ_G0031307
 protein coding gene Chr6:137312548-137444310 (-)
BALB/cJ MGP_BALBcJ_G0031386
 protein coding gene Chr6:133092155-133216163 (-)
C3H/HeJ MGP_C3HHeJ_G0031108
 protein coding gene Chr6:137363405-137489449 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031846
 protein coding gene Chr6:142467992-142598123 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028978
 protein coding gene Chr6:132429361-132547196 (-)
CAST/EiJ MGP_CASTEiJ_G0030477
 protein coding gene Chr6:136750545-136877761 (-)
CBA/J MGP_CBAJ_G0031067
 protein coding gene Chr6:147793217-147933512 (-)
DBA/2J MGP_DBA2J_G0031225
 protein coding gene Chr6:132125761-132246525 (-)
FVB/NJ MGP_FVBNJ_G0031175
 protein coding gene Chr6:131043207-131165577 (-)
LP/J MGP_LPJ_G0031309
 protein coding gene Chr6:138817366-138951925 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031215
 protein coding gene Chr6:151847233-151982646 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031879
 protein coding gene Chr6:137061468-137186946 (-)
PWK/PhJ MGP_PWKPhJ_G0030202
 protein coding gene Chr6:130599161-130727657 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030026
 protein coding gene Chr6:135210743-135344192 (-)
WSB/EiJ MGP_WSBEiJ_G0030568
 protein coding gene Chr6:137685933-137812713 (-)



Homology
more
  • Human Ortholog
    LRP6, LDL receptor related protein 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LRP6, LDL receptor related protein 6
  • Synonyms
    ADCAD2, STHAG7
  • Links
    NCBI Gene ID: 4040
    neXtProt AC: NX_O75581
    UniProt: O75581

  • Chr Location
    12p13.2; chr12:12116025-12267044 (-)  GRCh38
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
    125 phenotypes from 11 alleles in 22 genetic backgrounds
    64 phenotypes from multigenic genotypes
    2 images
    114 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
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
neoplasm
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
less
  • All GO Annotations
    161
  • GO References
    53
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1089
  • Tissues
    243
  • cDNA Data
    15
  • Literature Summary
    61
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16974 NCBI Gene Model | MGI Sequence Detail 120438 C57BL/6J ±  kb
    transcript NM_008514 RefSeq | MGI Sequence Detail 9368 ZRU/MplStud  
    polypeptide O88572 UniProt | EBI | MGI Sequence Detail 1613 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000009927 low-density lipoprotein receptor-related protein 6
      (term hierarchy)
    • InterPro Domains
      IPR050778 Cueball/EGF/LRP/Nidogen
      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
      IPR051221 Low-density lipoprotein receptor-related
      IPR017049 Low density lipoprotein receptor-related protein 5/6
      IPR011042 Six-bladed beta-propeller, TolB-like
    • GlyGen
      O88572 9 sites
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 2
      cDNA 17
      Primer pair 10
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1829, MGI:3043025, MGI:3577498, MGI:88317
    References
    more
    • Summaries
      All 240
      Developmental Gene Expression 61
      Diseases 4
      Gene Ontology 53
      Phenotypes 114
    • Earliest
      J:13045 Morgan WC, A new crooked tail mutation involving distinctive pleiotropism. J Genet. 1954;52(2):354-373
    • Latest
      J:353442 Luo X, et al., Casein kinase 1alpha mediates estradiol secretion via CYP19A1 expression in mouse ovarian granulosa cells. BMC Biol. 2024 Aug 26;22(1):176
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory