Snrnp200 MGI Mouse Gene Detail - MGI:2444401 - small nuclear ribonucleoprotein 200 (U5)

Symbol

Snrnp200
Name

small nuclear ribonucleoprotein 200 (U5)
Synonyms

A330064G03Rik, Ascc3l1, HELIC2, U5-200KD

Feature Type

protein coding gene
IDs

MGI:2444401
NCBI Gene: 320632
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:127050306-127082371 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.84 cM
Mapping Data

2 experiments

SNPs within 2kb

785 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444401	protein coding gene	Chr2:127050306-127082373 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026452	protein coding gene	Chr2:130480315-130517690 (+)
A/J	MGP_AJ_G0026416	protein coding gene	Chr2:125192186-125224347 (+)
AKR/J	MGP_AKRJ_G0026391	protein coding gene	Chr2:128766437-128799439 (+)
BALB/cJ	MGP_BALBcJ_G0026428	protein coding gene	Chr2:125461407-125493506 (+)
C3H/HeJ	MGP_C3HHeJ_G0026171	protein coding gene	Chr2:129286292-129320278 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026873	protein coding gene	Chr2:134577009-134613341 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024250	protein coding gene	Chr2:120034267-120067549 (+)
CAST/EiJ	MGP_CASTEiJ_G0025632	protein coding gene	Chr2:129491857-129527782 (+)
CBA/J	MGP_CBAJ_G0026151	protein coding gene	Chr2:139568992-139602699 (+)
DBA/2J	MGP_DBA2J_G0026285	protein coding gene	Chr2:124603000-124635703 (+)
FVB/NJ	MGP_FVBNJ_G0026249	protein coding gene	Chr2:123248113-123280445 (+)
LP/J	MGP_LPJ_G0026390	protein coding gene	Chr2:130718391-130750965 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026269	protein coding gene	Chr2:143601682-143634370 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026928	protein coding gene	Chr2:128794836-128830660 (+)
PWK/PhJ	MGP_PWKPhJ_G0025368	protein coding gene	Chr2:124145908-124179852 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025170	protein coding gene	Chr2:127871094-127904214 (+)
WSB/EiJ	MGP_WSBEiJ_G0025706	protein coding gene	Chr2:129690673-129723909 (+)

Human Ortholog

SNRNP200, small nuclear ribonucleoprotein U5 subunit 200

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SNRNP200, small nuclear ribonucleoprotein U5 subunit 200
Synonyms

ASCC3L1, BRR2, HELIC2, RP33, U5-200KD
Links

HGNC:30859

NCBI Gene ID: 23020

neXtProt AC: NX_O75643

UniProt: O75643
Chr Location

2q11.2; chr2:96274338-96321271 (-) GRCh38

MGI Vertebrate Homology

Snrnp200 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SNRNP200
Protein SuperFamily

BRR2
Gene Tree

Snrnp200

Diseases

2 with human SNRNP200 associations

				Human Disease	Mouse Models
				retinitis pigmentosa IDs retinitis pigmentosa DOID:10584 DOID:14742 ICD10CM:H35.52 MESH:C538365 MESH:D012174 NCI:C85045 OMIM:PS268000 ORDO:791 UMLS_CUI:C0035334 UMLS_CUI:C0220701
				retinitis pigmentosa 33 IDs retinitis pigmentosa 33 DOID:0110366 ICD10CM:H35.5 MESH:C563676 OMIM:610359

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

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
1 phenotype from multigenic genotypes
13 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

12
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

4
Radiation induced

1
Targeted

3
Transgenic

1
Genomic Mutations

2 involving Snrnp200
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

75 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation.

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All GO Annotations

37
GO References

8

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

744
Tissues

35
cDNA Data

11
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase snrnp200

ZFIN snrnp200

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All Sequences

43
RefSeq

2
UniProt

3
CCDS

CCDS16695.1

Ensembl

ENSMUSG00000003660 (Evidence)
NCBI Gene

320632

			Length	Strain/Species	Flank
genomic	ENSMUSG00000003660	Ensembl Gene Model \| MGI Sequence Detail	32066	C57BL/6J	± kb
transcript	ENSMUST00000103220	Ensembl \| MGI Sequence Detail	6745	Not Applicable
polypeptide	ENSMUSP00000099509	Ensembl \| MGI Sequence Detail	2136	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000015332 U5 small nuclear ribonucleoprotein 200 kDa helicase

(term hierarchy)
EC

3.6.4.13
InterPro Domains

IPR041094 Brr2, N-terminal helicase PWI domain

IPR035892 C2 domain superfamily

IPR011545 DEAD/DEAH box helicase domain

IPR001650 Helicase, C-terminal domain-like

IPR050474 Helicase Hel308/SKI2

IPR014001 Helicase superfamily 1/2, ATP-binding domain

IPR014756 Immunoglobulin E-set

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR048863 Pre-mRNA-splicing helicase BRR2-like, plug domain

IPR004179 Sec63 domain

IPR036390 Winged helix DNA-binding domain superfamily

IPR036388 Winged helix-like DNA-binding domain superfamily
GlyGen

Q6P4T2 1 site, 1 O-linked glycan (1 site)

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All nucleic 12

cDNA 11

Primer pair 1

Microarray probesets 2

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MGI:2679724

Summaries

All 42

Developmental Gene Expression 2

Gene Ontology 8

Phenotypes 13
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Snrnp200:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19993	Chr2:127050278-127050364 (+)	15 bp
Tssr19994	Chr2:127050384-127050395 (+)	84 bp
Tssr19995	Chr2:127050998-127051023 (+)	705 bp
Tssr19996	Chr2:127063768-127063789 (+)	13,473 bp
Tssr19997	Chr2:127080337-127080360 (+)	30,043 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 12/10/2024 MGI 6.24