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Rpgrip1l
Gene Detail
 Symbol
Name
ID
Rpgrip1l
Rpgrip1-like
MGI:1920563
Synonyms 1700047E16Rik, fantom, Ftm, Nphp8
Feature Type protein coding gene
Genetic Map
Chromosome 8
44.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:91217030-91313262 bp, - strand
From VEGA annotation of GRCm38

  96233 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18296  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Rpgrip1l

Human
homologs
Human Homolog RPGRIP1L, RPGRIP1-like
NCBI Gene ID 23322
neXtProt AC  NX_Q68CZ1
Human Synonyms  CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
Human Chr (Location)  16q12.2; chr16:53599906-53703859 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human RPGRIP1L
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Rpgrip1l interacts with 476 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (40 annotations)
Process brain development, camera-type eye development, ...
Component axoneme, cell-cell junction, ...
Function protein binding, thromboxane A2 receptor binding
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (9)    Tissues (7)    Images (4)
Theiler Stages: 20, 21, 23, 26
Assay TypeResults
Immunohistochemistry 1
RT-PCR 8
cDNA source data(22)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) cDNA(23) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000024417 (Evidence)
Ensembl Gene ModelENSMUSG00000033282 (Evidence)
Entrez Gene244585 (Evidence)
UniGene324592
DFCITC1602021, TC1605998, TC1620034, TC1779721
DoTSDT.101311610, DT.55192234, DT.87040879
NIA Mouse Gene IndexU030089, U335639
Consensus CDS ProjectCCDS22520.1
International Mouse Knockout Project StatusRpgrip1l
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024417 VEGA Gene Model | MGI Sequence Detail 96233 C57BL/6J ±  kb
transcript OTTMUST00000059851 VEGA | MGI Sequence Detail 7009 Not Applicable 
polypeptide OTTMUSP00000029151 VEGA | MGI Sequence Detail 1264 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(15) UniProt(3)
Polymorphisms SNPs within 2kb(717 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR021656 Protein of unknown function DUF3250
Protein Ontology PR:000014183 protein fantom
References (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:199499 Gerhardt C, et al., The ciliary protein Ftm is required for ventricular wall and septal development. PLoS One. 2013;8(2):e57545
All references(41)

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
08/26/2014
MGI 5.19
The Jackson Laboratory