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Fgfrl1 Gene Detail
Summary
  • Symbol
    Fgfrl1
  • Name
    fibroblast growth factor receptor-like 1
  • Synonyms
    FGFR5, FGFR5beta, FGFR5gamma, fibroblast growth factor receptor 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:2150920
    NCBI Gene: 116701
  • Gene Overview
    MyGene.info: FGFRL1
Location & Maps
more
  • Sequence Map
    Chr5:108692382-108706924 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14543 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 53.24 cM, cytoband E3-F
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    FGFRL1, fibroblast growth factor receptor-like 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FGFRL1, fibroblast growth factor receptor-like 1
    Orthology source: HomoloGene
  • Synonyms
    FGFR5, FHFR
  • Links
    NCBI Gene ID: 53834
    neXtProt AC: NX_Q8N441

  • Chr Location
    4p16; chr4:1009979-1026898 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fgfrl1 mouse models; 1 with human FGFRL1 associations

Human Disease Mouse Models
       Wolf-Hirschhorn Syndrome; WHS   OMIM: 194190 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    80 phenotypes from 4 alleles in 5 genetic backgrounds
    3 images
    18 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
    9
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    2 involving Fgfrl1
  • Incidental Mutations
Homozygotes for a null allele show neonatal death due to respiratory distress, a malformed diaphragm, and lack of metanephric kidneys. Homozygotes for a different null allele show both fetal and neonatal death, a similar diaphragm defect, as well as cardiac and skeletal defects, and fetal anemia.
Gene Ontology
(GO)
Classifications
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  • 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054022 VEGA Gene Model | MGI Sequence Detail 14543 C57BL/6J ±  kb
transcript OTTMUST00000134291 VEGA | MGI Sequence Detail 2329 Not Applicable  
polypeptide OTTMUSP00000071237 VEGA | MGI Sequence Detail 529 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    37 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 52
    cDNA 50
    Primer pair 1
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 41
    Developmental Gene Expression 16
    Diseases 1
    Gene Ontology 6
    Phenotypes 18
  • Earliest
    J:70793 Sleeman M, et al., Identification of a new fibroblast growth factor receptor, FGFR5. Gene. 2001 Jun 27;271(2):171-82
  • Latest
    J:227247 Brommage R, et al., High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes. Bone Res. 2014;2:14034

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory