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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:145823205-145847561 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 71.03 cM
  • Mapping Data
    55 experiments
Strain
Comparison
more
  • SNPs within 2kb
    922 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890500
 protein coding gene Chr3:145799032-145847563 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027967
 protein coding gene Chr3:149592826-149621073 (+)
A/J MGP_AJ_G0027926
 protein coding gene Chr3:144251996-144276097 (+)
AKR/J MGP_AKRJ_G0027892
 protein coding gene Chr3:148092238-148118368 (+)
BALB/cJ MGP_BALBcJ_G0027938
 protein coding gene Chr3:144061988-144087673 (+)
C3H/HeJ MGP_C3HHeJ_G0027668
 protein coding gene Chr3:148453818-148478426 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028381
 protein coding gene Chr3:154622545-154647669 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025719
 protein coding gene Chr3:139317263-139345769 (+)
CAST/EiJ MGP_CASTEiJ_G0027121
 protein coding gene Chr3:148431121-148455178 (+)
CBA/J MGP_CBAJ_G0027643
 protein coding gene Chr3:160103732-160131854 (+)
DBA/2J MGP_DBA2J_G0027783
 protein coding gene Chr3:143397967-143421994 (+)
FVB/NJ MGP_FVBNJ_G0027750
 protein coding gene Chr3:140798566-140824665 (+)
LP/J MGP_LPJ_G0027894
 protein coding gene Chr3:150976984-151002665 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027783
 protein coding gene Chr3:168396243-168422501 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028440
 protein coding gene Chr3:147678340-147703364 (+)
PWK/PhJ MGP_PWKPhJ_G0026844
 protein coding gene Chr3:143239627-143264500 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026672
 protein coding gene Chr3:145852149-145876706 (+)
WSB/EiJ MGP_WSBEiJ_G0027201
 protein coding gene Chr3:148640842-148666934 (+)



Homology
more
  • Human Ortholog
    MCOLN3, mucolipin TRP cation channel 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MCOLN3, mucolipin TRP cation channel 3
  • Synonyms
    TRP-ML3, TRPML3
  • Links
    NCBI Gene ID: 55283
    neXtProt AC: NX_Q8TDD5
    UniProt: Q8TDD5

  • Chr Location
    1p22.3; chr1:85018082-85048500 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 3 alleles in 11 genetic backgrounds
    2 phenotypes from multigenic genotypes
    1 images
    31 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.
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
    20
  • GO References
    9
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
    730
  • Tissues
    6
  • cDNA Data
    17
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036853 Ensembl Gene Model | MGI Sequence Detail 24357 C57BL/6J ±  kb
    transcript ENSMUST00000039450 Ensembl | MGI Sequence Detail 2991 Not Applicable  
    polypeptide ENSMUSP00000038801 Ensembl | MGI Sequence Detail 553 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15379, MGI:2444485, MGI:98922
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 9
      Phenotypes 31
    • Earliest
      J:13133 Cloudman AM, et al., The varitint-waddler mouse. A dominant mutation in Mus musculus. J Hered. 1945;36(9):258-263
    • Latest
      J:320955 Spix B, et al., Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice. Nat Commun. 2022 Jan 14;13(1):318
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory