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Igf1r Gene Detail
Summary
  • Symbol
    Igf1r
  • Name
    insulin-like growth factor I receptor
  • Synonyms
    A330103N21Rik, CD221, hyft, IGF-1R, line 186
  • Feature Type
    protein coding gene
  • IDs
    MGI:96433
    NCBI Gene: 16001
Location & Maps
more
  • Sequence Map
    Chr7:67952859-68226780 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      273922 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    IGF1R, insulin like growth factor 1 receptor
  • Vertebrate Orthologs
    11
  • Human Ortholog
    IGF1R, insulin like growth factor 1 receptor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CD221, IGFIR, IGFR, JTK13
  • Links
    NCBI Gene ID: 3480
    neXtProt AC: NX_P08069

  • Chr Location
    15q26.3; chr15:98648539-98964530 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human IGF1R associations

Human Disease Mouse Models
       Insulin-Like Growth Factor I, Resistance to   OMIM: 270450
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    74 phenotypes from 8 alleles in 13 genetic backgrounds
    87 phenotypes from multigenic genotypes
    146 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    24
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Radiation induced
    1
  • Targeted
    12
  • Transgenic
    4
  • Genomic Mutations
    2 involving Igf1r
  • Incidental Mutations
Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia.
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 ENSMUSG00000005533 Ensembl Gene Model | MGI Sequence Detail 273922 C57BL/6J ±  kb
transcript ENSMUST00000005671 Ensembl | MGI Sequence Detail 4489 Not Applicable  
polypeptide ENSMUSP00000005671 Ensembl | MGI Sequence Detail 1369 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2102 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000003273 insulin-like growth factor 1 receptor
  • EC
  • InterPro Domains
    IPR003961 Fibronectin type III
    IPR006211 Furin-like cysteine-rich domain
    IPR006212 Furin-like repeat
    IPR009030 Growth factor receptor cysteine-rich domain
    IPR013783 Immunoglobulin-like fold
    IPR032675 Leucine-rich repeat domain, L domain-like
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR000494 Receptor L-domain
    IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
    IPR008266 Tyrosine-protein kinase, active site
    IPR020635 Tyrosine-protein kinase, catalytic domain
    IPR016246 Tyrosine-protein kinase, insulin-like receptor
    IPR002011 Tyrosine-protein kinase, receptor class II, conserved site
Molecular
Reagents
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  • All nucleic 156
    Genomic 1
    cDNA 146
    Primer pair 9

    Microarray probesets 8
Other
Accession IDs
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MGD-MRK-11229, MGI:1925023, MGI:3576016
References
more
  • Summaries
    All 275
    Developmental Gene Expression 71
    Diseases 5
    Gene Ontology 22
    Phenotypes 146
  • Earliest
    J:9941 Sundaresan S, et al., Insulin-like growth factor I receptor gene is concordant with c-Fes protooncogene and mouse chromosome 7 in somatic cell hybrids. Somat Cell Mol Genet. 1989 Jul;15(4):373-6
  • Latest
    J:227002 Ferron SR, et al., Differential genomic imprinting regulates paracrine and autocrine roles of IGF2 in mouse adult neurogenesis. Nat Commun. 2015;6:8265

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory