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Mtr Gene Detail
Summary
  • Symbol
    Mtr
  • Name
    5-methyltetrahydrofolate-homocysteine methyltransferase
  • Synonyms
    D830038K18Rik, methionine synthase, MS
  • Feature Type
    protein coding gene
  • IDs
    MGI:894292
    NCBI Gene: 238505
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:12197598-12272999 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 4.52 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2395 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_894292
 protein coding gene Chr13:12196217-12273090 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020228
 protein coding gene Chr13:8920508-8999377 (-)
A/J MGP_AJ_G0020184
 protein coding gene Chr13:8768380-8843091 (-)
AKR/J MGP_AKRJ_G0020159
 protein coding gene Chr13:8964825-9036071 (-)
BALB/cJ MGP_BALBcJ_G0020167
 protein coding gene Chr13:8750027-8828651 (-)
C3H/HeJ MGP_C3HHeJ_G0019971
 protein coding gene Chr13:9088958-9168319 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020614
 protein coding gene Chr13:9347928-9423659 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018221
 protein coding gene Chr13:8597374-8670595 (-)
CAST/EiJ MGP_CASTEiJ_G0019509
 protein coding gene Chr13:8790428-8868870 (-)
CBA/J MGP_CBAJ_G0019938
 protein coding gene Chr13:9598220-9678762 (-)
DBA/2J MGP_DBA2J_G0020055
 protein coding gene Chr13:8588106-8662129 (-)
FVB/NJ MGP_FVBNJ_G0020040
 protein coding gene Chr13:8396669-8469579 (-)
LP/J MGP_LPJ_G0020129
 protein coding gene Chr13:9028176-9103160 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020076
 protein coding gene Chr13:9891313-9970643 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020642
 protein coding gene Chr13:8851370-8926379 (-)
PWK/PhJ MGP_PWKPhJ_G0019272
 protein coding gene Chr13:8621187-8693829 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019079
 protein coding gene Chr13:8849412-8917836 (-)
WSB/EiJ MGP_WSBEiJ_G0019569
 protein coding gene Chr13:8819722-8892031 (-)



Homology
more
  • Human Ortholog
    MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase
  • Synonyms
    cblG, HMAG, MS
  • Links
    NCBI Gene ID: 4548
    neXtProt AC: NX_Q99707
    UniProt: Q99707

  • Chr Location
    1q43; chr1:236795260-236921278 (+)  GRCh38
  • MGI Vertebrate Homology
    Mtr stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: MTR
  • Protein SuperFamily
    MetH
  • Gene Tree
    Mtr
Human Diseases
more
  • Diseases
    14 with human MTR associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 2 genetic backgrounds
    11 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.
Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    7
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
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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
    868
  • Tissues
    114
  • cDNA Data
    28
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021311 Ensembl Gene Model | MGI Sequence Detail 75402 C57BL/6J ±  kb
    transcript ENSMUST00000099856 Ensembl | MGI Sequence Detail 8294 Not Applicable  
    polypeptide ENSMUSP00000097442 Ensembl | MGI Sequence Detail 1253 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000010747 methionine synthase
      (term hierarchy)
    • EC
      2.1.1.13
    • InterPro Domains
      IPR036724 Cobalamin-binding domain superfamily
      IPR011822 Cobalamin-dependent methionine synthase
      IPR006158 Cobalamin (vitamin B12)-binding domain
      IPR003759 Cobalamin (vitamin B12)-binding module, cap domain
      IPR011005 Dihydropteroate synthase-like superfamily
      IPR003726 Homocysteine-binding domain
      IPR036589 Homocysteine-binding domain superfamily
      IPR033706 Methionine synthase, B12-binding domain
      IPR050554 Methionine Synthase/Corrinoid
      IPR036594 Methionine synthase domain
      IPR000489 Pterin-binding domain
      IPR004223 Vitamin B12-dependent methionine synthase, activation domain
      IPR037010 Vitamin B12-dependent methionine synthase, activation domain superfamily
    • GlyGen
      A6H5Y3 2 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 29
      Primer pair 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139114
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 8
      Gene Ontology 7
      Phenotypes 11
    • Earliest
      J:39061 Zhang ZX, et al., The methionine synthase (Mtr) gene maps to proximal mouse chromosome 13. Mamm Genome. 1997 Oct;8(10):787-8
    • Latest
      J:355615 Hassan Z, et al., Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency. Cells. 2023 Apr 27;12(9)
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory