Rp1l1 MGI Mouse Gene Detail - MGI:2384303 - retinitis pigmentosa 1 homolog like 1

Symbol

Rp1l1
Name

retinitis pigmentosa 1 homolog like 1
Synonyms

Dcdc4, Rp1hl1

Feature Type

protein coding gene
IDs

MGI:2384303
NCBI Gene: 271209
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr14:64229880-64270955 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 33.34 cM
Mapping Data

2 experiments

SNPs within 2kb

1028 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384303	protein coding gene	Chr14:64229880-64272474 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021468	protein coding gene	Chr14:58545988-58594139 (+)
A/J	MGP_AJ_G0021427	protein coding gene	Chr14:57204855-57247337 (+)
AKR/J	MGP_AKRJ_G0021403	protein coding gene	Chr14:59231389-59274946 (+)
BALB/cJ	MGP_BALBcJ_G0021433	protein coding gene	Chr14:57162108-57203846 (+)
C3H/HeJ	MGP_C3HHeJ_G0021210	protein coding gene	Chr14:58856851-58901253 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021872	protein coding gene	Chr14:61287142-61333173 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019412	protein coding gene	Chr14:55141483-55182091 (+)
CAST/EiJ	MGP_CASTEiJ_G0020727	protein coding gene	Chr14:55305314-55351776 (+)
CBA/J	MGP_CBAJ_G0021177	protein coding gene	Chr14:63132612-63181614 (+)
DBA/2J	MGP_DBA2J_G0021300	protein coding gene	Chr14:56878325-56922957 (+)
FVB/NJ	MGP_FVBNJ_G0021279	protein coding gene	Chr14:56262701-56310380 (+)
LP/J	MGP_LPJ_G0021375	protein coding gene	Chr14:59581980-59630957 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021308	protein coding gene	Chr14:62324101-62369050 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021895	protein coding gene	Chr14:58385992-58433116 (+)
PWK/PhJ	MGP_PWKPhJ_G0020471	protein coding gene	Chr14:53556077-53596668 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020304	protein coding gene	Chr14:54351271-54395137 (+)
WSB/EiJ	MGP_WSBEiJ_G0020780	protein coding gene	Chr14:58705802-58747917 (+)

Human Ortholog

RP1L1, RP1 like 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RP1L1, RP1 like 1
Synonyms

DCDC4B, OCMD, RP88
Links

HGNC:15946

NCBI Gene ID: 94137

neXtProt AC: NX_Q8IWN7

UniProt: Q8IWN7
Chr Location

8p23.1; chr8:10606349-10712187 (-) GRCh38

MGI Vertebrate Homology

Rp1l1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: RP1L1
Gene Tree

Rp1l1

Diseases

2 with human RP1L1 associations

				Human Disease	Mouse Models
				occult macular dystrophy IDs occult macular dystrophy DOID:0050578 OMIM:613587
				retinitis pigmentosa 88 IDs retinitis pigmentosa 88 DOID:0112145 OMIM:618826

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

8 phenotypes from 1 allele in 1 genetic background
2 phenotypes from multigenic genotypes
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

6
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

2
Genomic Mutations

1 involving Rp1l1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

79 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration.

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All GO Annotations

13
GO References

5

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

723
Tissues

12
cDNA Data

5
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

37
RefSeq

2
UniProt

3
CCDS

CCDS36951.1

Ensembl

ENSMUSG00000046049 (Evidence)
NCBI Gene

271209

			Length	Strain/Species	Flank
genomic	271209	NCBI Gene Model \| MGI Sequence Detail	41076	C57BL/6J	± kb
transcript	NM_146246	RefSeq \| MGI Sequence Detail	6811	Not Specified
polypeptide	Q8CGM2	UniProt \| EBI \| MGI Sequence Detail	1859	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000014167 retinitis pigmentosa 1-like 1 protein

(term hierarchy)
InterPro Domains

IPR003533 Doublecortin domain

IPR036572 Doublecortin domain superfamily

IPR040163 RP1/RP1L1

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All nucleic 8

cDNA 7

Other 1

Microarray probesets 2

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MGI:3528177

Summaries

All 37

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 9
Earliest

J:83424 Bowne SJ, et al., Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis. 2003 Apr 24;9:129-37
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Rp1l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr126146	Chr14:64229874-64229892 (+)	3 bp
Tssr126147	Chr14:64229893-64229904 (+)	19 bp
Tssr126148	Chr14:64229916-64229928 (+)	42 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24