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Rpgrip1l Gene Detail
Summary
  • Symbol
    Rpgrip1l
  • Name
    Rpgrip1-like
  • Synonyms
    1700047E16Rik, fantom, Ftm, Nphp8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920563
    NCBI Gene: 244585
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:91217030-91313262 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 44.29 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    715 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920563
protein coding gene Chr8:91217030-91313354 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033931
protein coding gene Chr8:92439017-92540120 (-)
A/J MGP_AJ_G0033914
protein coding gene Chr8:88809479-88907845 (-)
AKR/J MGP_AKRJ_G0033840
protein coding gene Chr8:91319929-91420454 (-)
BALB/cJ MGP_BALBcJ_G0033906
protein coding gene Chr8:88975073-89072443 (-)
C3H/HeJ MGP_C3HHeJ_G0033616
protein coding gene Chr8:92018716-92117118 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034427
protein coding gene Chr8:95875476-95977334 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031368
protein coding gene Chr8:82753271-82859847 (-)
CAST/EiJ MGP_CASTEiJ_G0032948
protein coding gene Chr8:91512902-91614238 (-)
CBA/J MGP_CBAJ_G0033592
protein coding gene Chr8:99096435-99199725 (-)
DBA/2J MGP_DBA2J_G0033746
protein coding gene Chr8:88377917-88475249 (-)
FVB/NJ MGP_FVBNJ_G0033693
protein coding gene Chr8:87311305-87408027 (-)
LP/J MGP_LPJ_G0033838
protein coding gene Chr8:92563776-92673397 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033735
protein coding gene Chr8:101528141-101628691 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034445
protein coding gene Chr8:91425868-91523051 (-)
PWK/PhJ MGP_PWKPhJ_G0032650
protein coding gene Chr8:87690643-87790323 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032487
protein coding gene Chr8:90294408-90397633 (-)
WSB/EiJ MGP_WSBEiJ_G0033060
protein coding gene Chr8:91885279-91986145 (-)



Homology
more
  • Human Ortholog
    RPGRIP1L, RPGRIP1 like
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RPGRIP1L, RPGRIP1 like
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
  • Links
    NCBI Gene ID: 23322
    neXtProt AC: NX_Q68CZ1
    UniProt: Q68CZ1

  • Chr Location
    16q12.2; chr16:53599239-53703934 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Rpgrip1l mouse models; 2 with human RPGRIP1L associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
      
IDs
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
less
  • Phenotype Summary
    133 phenotypes from 2 alleles in 2 genetic backgrounds
    21 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033282 Ensembl Gene Model | MGI Sequence Detail 96233 C57BL/6J ±  kb
    transcript ENSMUST00000047783 Ensembl | MGI Sequence Detail 7009 Not Applicable  
    polypeptide ENSMUSP00000042702 Ensembl | MGI Sequence Detail 1264 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 24
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 9
      Phenotypes 21
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:261316 Perez-Garcia V, et al., Placentation defects are highly prevalent in embryonic lethal mouse mutants. Nature. 2018 Mar 22;555(7697):463-468

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory