Rptor MGI Mouse Gene Detail - MGI:1921620 - regulatory associated protein of MTOR, complex 1

Symbol

Rptor
Name

regulatory associated protein of MTOR, complex 1
Synonyms

4932417H02Rik, mKIAA1303, Rap, raptor

Feature Type

protein coding gene
IDs

MGI:1921620
NCBI Gene: 74370
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr11:119493731-119790402 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 83.96 cM, cytoband E2
Mapping Data

2 experiments

SNPs within 2kb

5899 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921620	protein coding gene	Chr11:119493731-119790417 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019485	protein coding gene	Chr11:124020426-124320593 (+)
A/J	MGP_AJ_G0019453	protein coding gene	Chr11:118506482-118801314 (+)
AKR/J	MGP_AKRJ_G0019423	protein coding gene	Chr11:122075121-122379007 (+)
BALB/cJ	MGP_BALBcJ_G0019428	protein coding gene	Chr11:118864754-119157240 (+)
C3H/HeJ	MGP_C3HHeJ_G0019234	protein coding gene	Chr11:122403174-122698627 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019877	protein coding gene	Chr11:127792236-128092607 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017502	protein coding gene	Chr11:115504819-115804533 (+)
CAST/EiJ	MGP_CASTEiJ_G0018788	protein coding gene	Chr11:123876140-124175914 (+)
CBA/J	MGP_CBAJ_G0019205	protein coding gene	Chr11:132787794-133098681 (+)
DBA/2J	MGP_DBA2J_G0019317	protein coding gene	Chr11:117877089-118168038 (+)
FVB/NJ	MGP_FVBNJ_G0019309	protein coding gene	Chr11:117556071-117851864 (+)
LP/J	MGP_LPJ_G0019389	protein coding gene	Chr11:124337899-124635699 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019342	protein coding gene	Chr11:131664758-131976040 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019916	protein coding gene	Chr11:122755478-123057522 (+)
PWK/PhJ	MGP_PWKPhJ_G0018554	protein coding gene	Chr11:119289343-119592917 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018346	protein coding gene	Chr11:122520229-122826880 (+)
WSB/EiJ	MGP_WSBEiJ_G0018840	protein coding gene	Chr11:122746543-123049342 (+)

Human Ortholog

RPTOR, regulatory associated protein of MTOR complex 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RPTOR, regulatory associated protein of MTOR complex 1
Synonyms

KOG1, Mip1
Links

HGNC:30287

NCBI Gene ID: 57521

neXtProt AC: NX_Q8N122

UniProt: Q8N122
Chr Location

17q25.3; chr17:80544819-80966371 (+) GRCh38

MGI Vertebrate Homology

Rptor stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RPTOR
Gene Tree

Rptor

Diseases

1 with human RPTOR associations

				Human Disease	Mouse Models
				nicotine dependence IDs nicotine dependence DOID:0050742 EFO:0003768 ICD10CM:F17 MESH:D014029 NCI:C54203 UMLS_CUI:C0028043

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

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Phenotype Summary

66 phenotypes from 6 alleles in 9 genetic backgrounds
13 phenotypes from multigenic genotypes
249 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

72
Endonuclease-mediated

8
Gene trapped

55
Targeted

9
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

117 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells.

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All GO Annotations

76
GO References

21

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 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

795
Tissues

63
cDNA Data

18
Literature Summary

25

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rptor

ZFIN rptor

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All Sequences

89
RefSeq

16
UniProt

12
CCDS

CCDS25720.1

Ensembl

ENSMUSG00000025583 (Evidence)
NCBI Gene

74370

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025583	Ensembl Gene Model \| MGI Sequence Detail	296672	C57BL/6J	± kb
transcript	ENSMUST00000247866	Ensembl \| MGI Sequence Detail	6594	Not Applicable
polypeptide	ENSMUSP00000159536	Ensembl \| MGI Sequence Detail	1353	Not Applicable

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UniProt

12 Sequences
Protein Ontology

PR:000013735 regulatory-associated protein of mTOR

(term hierarchy)
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR000357 HEAT repeat

IPR029347 Raptor, N-terminal CASPase-like domain

IPR004083 Regulatory associated protein of TOR

IPR001680 WD40 repeat

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily
GlyGen

Q8K4Q0 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 21

cDNA 21

Microarray probesets 5

Summaries

All 339

Developmental Gene Expression 25

Gene Ontology 21

Phenotypes 249
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:348958 Xie M, et al., The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling. Nat Commun. 2024 Mar 26;15(1):2367

TSS for Rptor:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106242	Chr11:119493807-119493860 (+)	103 bp
Tssr106243	Chr11:119494406-119494437 (+)	691 bp
Tssr106244	Chr11:119562085-119562108 (+)	68,366 bp
Tssr106245	Chr11:119562119-119562130 (+)	68,394 bp
Tssr106246	Chr11:119566296-119566308 (+)	72,571 bp
Tssr106247	Chr11:119571819-119571856 (+)	78,107 bp
Tssr106248	Chr11:119615815-119615847 (+)	122,100 bp
Tssr106249	Chr11:119620352-119620374 (+)	126,632 bp
Tssr106250	Chr11:119620404-119620418 (+)	126,680 bp
Tssr106251	Chr11:119726404-119726427 (+)	232,685 bp
Tssr106252	Chr11:119728091-119728133 (+)	234,381 bp
Tssr106253	Chr11:119747026-119747041 (+)	253,303 bp
Tssr106254	Chr11:119747063-119747079 (+)	253,340 bp
Tssr106255	Chr11:119747083-119747094 (+)	253,358 bp
Tssr106256	Chr11:119747103-119747127 (+)	253,384 bp
Tssr106257	Chr11:119766830-119766843 (+)	273,106 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)
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