About   Help   FAQ
Mcoln3 Gene Detail
Summary
  • Symbol
    Mcoln3
  • Name
    mucolipin 3
  • Synonyms
    6720490O21Rik, TRPML3, Va, varitint-waddler
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890500
    NCBI Gene: 171166
  • Gene Overview
    MyGene.info: MCOLN3
Location & Maps
more
  • Sequence Map
    Chr3:146117450-146141806 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24357 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 71.03 cM
  • Mapping Data
    55 experiments
Homology
more
  • Human Ortholog
    MCOLN3, mucolipin 3
  • Vertebrate Orthologs
    11
  • Human Ortholog
    MCOLN3, mucolipin 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    TRPML3, TRP-ML3
  • Links
    NCBI Gene ID: 55283
    neXtProt AC: NX_Q8TDD5

  • Chr Location
    1p22.3; chr1:85018082-85048902 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 3 alleles in 11 genetic backgrounds
    2 phenotypes from multigenic genotypes
    1 images
    24 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.
  • All Mutations and Alleles
    8
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    5
  • Genomic Mutations
    1 involving Mcoln3
  • Incidental Mutations
Heterozygotes show normal/diluted/white hair patches, circling, hyperactivity, deafness, and reduced fertility. Homozygotes are white with small patches of color and show severe behavioral abnormalities, poor postnatal viability and are nearly infertile.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026569 VEGA Gene Model | MGI Sequence Detail 24357 C57BL/6J ±  kb
transcript OTTMUST00000065733 VEGA | MGI Sequence Detail 2991 Not Applicable  
polypeptide OTTMUSP00000032798 VEGA | MGI Sequence Detail 553 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    472 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000010254 mucolipin-3
  • InterPro Domains
    IPR013122 Polycystin cation channel, PKD1/PKD2
Molecular
Reagents
less
  • All nucleic 17
    cDNA 16
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-15379, MGI:2444485, MGI:98922
References
more
  • Summaries
    All 61
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 24
  • Earliest
    J:13133 Cloudman AM, et al., The varitint-waddler mouse. A dominant mutation in Mus musculus. J Hered. 1945;36:258-263
  • Latest
    J:222652 Remis NN, et al., Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning. PLoS Genet. 2014 Dec;10(12):e1004833

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory