Lrp6
Gene Detail

Symbol Name ID

Lrp6 low density lipoprotein receptor-related protein 6 MGI:1298218

Synonyms

Cd, Gw

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 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; chr12:12268959-12419811 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human LRP6

Alleles and phenotypes

All alleles(28) : Targeted(7) Gene trapped(18) Spontaneous(2) Chemically induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (160 annotations)

Process	anterior/posterior pattern specification, axis elongation, ...
Component	caveola, cell surface, ...
Function	apolipoprotein binding, coreceptor activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (37 records)
Data Summary: Results (263)    Tissues (161)    Images (61)
Theiler Stages: 1, 2, 3, 4, 5, 19, 20, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	6
RNA in situ	190
Northern blot	3
Western blot	4
RT-PCR	60

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(24) Genomic(2) cDNA(15) Primer pair(7)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000021240 (Evidence)
Ensembl Gene Model	ENSMUSG00000030201 (Evidence)
Entrez Gene	16974 (Evidence)
Consensus CDS Project	CCDS39678.1
International Mouse Knockout Project Status	Lrp6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021240	VEGA Gene Model | MGI Sequence Detail	120490	C57BL/6J
transcript	OTTMUST00000050309	VEGA | MGI Sequence Detail	9368	Not Applicable
polypeptide	OTTMUSP00000023469	VEGA | MGI Sequence Detail	1613	Not Applicable

All sequences(26) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(925 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194074 Ahn Y, et al., Lrp4 and Wise interplay controls the formation and patterning of mammary and other skin appendage placodes by modulating Wnt signaling. Development. 2013 Feb 1;140(3):583-93
All references(125)

Other accession IDs

MGD-MRK-1829, MGI:3043025, MGI:88317