Tprn MGI Mouse Gene Detail - MGI:2139535

Symbol

Tprn
Name

taperin
Synonyms

C430004E15Rik

Feature Type

protein coding gene
IDs

MGI:2139535
NCBI Gene: 97031
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr2:25152630-25159897 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 17.11 cM
Mapping Data

2 experiments

SNPs within 2kb

186 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2139535	protein coding gene	Chr2:25152610-25159898 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025433	protein coding gene	Chr2:23130516-23137771 (+)
A/J	MGP_AJ_G0025410	protein coding gene	Chr2:22241766-22249029 (+)
AKR/J	MGP_AKRJ_G0025380	protein coding gene	Chr2:22985446-22992700 (+)
BALB/cJ	MGP_BALBcJ_G0025406	protein coding gene	Chr2:22352403-22359715 (+)
C3H/HeJ	MGP_C3HHeJ_G0025167	protein coding gene	Chr2:22912058-22919316 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025850	protein coding gene	Chr2:23865498-23872756 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023261	protein coding gene	Chr2:21158186-21165405 (+)
CAST/EiJ	MGP_CASTEiJ_G0024630	protein coding gene	Chr2:22794165-22801421 (+)
CBA/J	MGP_CBAJ_G0025145	protein coding gene	Chr2:24698607-24706001 (+)
DBA/2J	MGP_DBA2J_G0025278	protein coding gene	Chr2:22083559-22090820 (+)
FVB/NJ	MGP_FVBNJ_G0025240	protein coding gene	Chr2:21824490-21831753 (+)
LP/J	MGP_LPJ_G0025364	protein coding gene	Chr2:23075352-23082618 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025271	protein coding gene	Chr2:24903099-24910364 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025909	protein coding gene	Chr2:22932218-22939481 (+)
PWK/PhJ	MGP_PWKPhJ_G0024378	protein coding gene	Chr2:21895703-21903027 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024178	protein coding gene	Chr2:23088446-23095702 (+)
WSB/EiJ	MGP_WSBEiJ_G0024699	protein coding gene	Chr2:23001040-23008292 (+)

Human Ortholog

TPRN, taperin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TPRN, taperin
Synonyms

C9orf75, DFNB79
Links

HGNC:26894

NCBI Gene ID: 286262

neXtProt AC: NX_Q4KMQ1

UniProt: Q4KMQ1
Chr Location

9q34.3; chr9:137191617-137204193 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: TPRN
Gene Tree

Tprn

Diseases

1 with Tprn mouse models; 1 with human TPRN associations

Human Disease

Mouse Models

autosomal recessive nonsyndromic deafness 79

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
10 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

8
Endonuclease-mediated

2
Gene trapped

4
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available

Mice homozygous for a knock-out allele exhibit hearing loss and degeneration of hair cell stereocilia.

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All GO Annotations

27
GO References

11

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

736
Tissues

20
cDNA Data

43
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN tprn

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All Sequences

41
RefSeq

2
UniProt

1
CCDS

CCDS15759.2

Ensembl

ENSMUSG00000048707 (Evidence)
NCBI Gene

97031

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048707	Ensembl Gene Model \| MGI Sequence Detail	7268	C57BL/6J	± kb
transcript	ENSMUST00000114336	Ensembl \| MGI Sequence Detail	2787	Not Applicable
polypeptide	ENSMUSP00000109975	Ensembl \| MGI Sequence Detail	749	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000031473 taperin

(term hierarchy)
InterPro Domains

IPR026671 Phostensin/Taperin

IPR025903 Phostensin/Taperin N-terminal domain

IPR025907 Phostensin/Taperin PP1-binding domain
GlyGen

A2AI08 1 site, 1 N-linked glycan (1 site)

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All nucleic 43

cDNA 43

Microarray probesets 4

Summaries

All 42

Developmental Gene Expression 2

Diseases 1

Gene Ontology 11

Phenotypes 10
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

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

TSS for Tprn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr16679	Chr2:25152546-25152555 (+)	-79 bp
Tssr16680	Chr2:25152568-25152575 (+)	-58 bp
Tssr16681	Chr2:25152601-25152682 (+)	12 bp
Tssr16682	Chr2:25153211-25153222 (+)	587 bp
Tssr16683	Chr2:25153224-25153231 (+)	598 bp
Tssr16684	Chr2:25153304-25153359 (+)	702 bp
Tssr16685	Chr2:25153371-25153380 (+)	746 bp
Tssr16686	Chr2:25153384-25153393 (+)	759 bp
Tssr16687	Chr2:25153931-25153943 (+)	1,307 bp
Tssr16688	Chr2:25154282-25154302 (+)	1,662 bp
Tssr16689	Chr2:25154316-25154325 (+)	1,691 bp
Tssr16690	Chr2:25155569-25155570 (+)	2,940 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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