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Lrpprc Gene Detail
Summary
  • Symbol
    Lrpprc
  • Name
    leucine-rich PPR-motif containing
  • Synonyms
    3110001K13Rik, Lrp130
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919666
    NCBI Gene: 72416
Location & Maps
more
  • Sequence Map
    Chr17:84705247-84790789 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      85543 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    LRPPRC, leucine rich pentatricopeptide repeat containing
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LRPPRC, leucine rich pentatricopeptide repeat containing
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CLONE-23970, GP130, LRP130, LSFC
  • Links
    NCBI Gene ID: 10128
    neXtProt AC: NX_P42704

  • Chr Location
    2p21; chr2:43886224-43996005 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human LRPPRC associations

Human Disease Mouse Models
       Leigh Syndrome, French Canadian Type; LSFC   OMIM: 220111
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 4 alleles in 4 genetic backgrounds
    9 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
    13
  • Gene trapped
    10
  • Targeted
    3
  • Incidental Mutations
Mice homozygous for a gene trap allele exhibit embryonic lethality during organogenesis associated with growth retardation. Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and embryo turning.
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 OTTMUSG00000030887 VEGA Gene Model | MGI Sequence Detail 85543 C57BL/6J ±  kb
transcript OTTMUST00000076447 VEGA | MGI Sequence Detail 4393 Not Applicable  
polypeptide OTTMUSP00000040245 VEGA | MGI Sequence Detail 1392 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    448 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000009930 leucine-rich PPR motif-containing protein, mitochondrial
  • InterPro Domains
    IPR002885 Pentatricopeptide repeat
Molecular
Reagents
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  • All nucleic 136
    cDNA 135
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
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MGI:2145077
References
more
  • Summaries
    All 35
    Developmental Gene Expression 3
    Gene Ontology 8
    Phenotypes 9
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:209159 Mourier A, et al., Loss of LRPPRC causes ATP synthase deficiency. Hum Mol Genet. 2014 May 15;23(10):2580-92

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