Pkd2l1 MGI Mouse Gene Detail - MGI:1352448 - polycystic kidney disease 2-like 1

Symbol

Pkd2l1
Name

polycystic kidney disease 2-like 1
Synonyms

PCL, PKD2L, Pkdl, polycystin-L, TRPP3

Feature Type

protein coding gene
IDs

MGI:1352448
NCBI Gene: 329064
Alliance

gene page

Sequence Map

Chr19:44136076-44180881 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 36.91 cM
Mapping Data

2 experiments

SNPs within 2kb

1152 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1352448	protein coding gene	Chr19:44136076-44235355 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025166	protein coding gene	Chr19:43600875-43651138 (-)
A/J	MGP_AJ_G0025143	protein coding gene	Chr19:41521514-41568274 (-)
AKR/J	MGP_AKRJ_G0025111	protein coding gene	Chr19:42832468-42878463 (-)
BALB/cJ	MGP_BALBcJ_G0025137	protein coding gene	Chr19:41567465-41611458 (-)
C3H/HeJ	MGP_C3HHeJ_G0024897	protein coding gene	Chr19:43011955-43057621 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025580	protein coding gene	Chr19:44669059-44726246 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022994	protein coding gene	Chr19:40812969-40863793 (-)
CAST/EiJ	MGP_CASTEiJ_G0024362	protein coding gene	Chr19:42721700-42764584 (-)
CBA/J	MGP_CBAJ_G0024877	protein coding gene	Chr19:46889578-46939263 (-)
DBA/2J	MGP_DBA2J_G0025009	protein coding gene	Chr19:41346157-41387909 (-)
FVB/NJ	MGP_FVBNJ_G0024970	protein coding gene	Chr19:41109541-41161310 (-)
LP/J	MGP_LPJ_G0025095	protein coding gene	Chr19:43558145-43613079 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025001	protein coding gene	Chr19:46406719-46451002 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025638	protein coding gene	Chr19:42925540-42967889 (-)
PWK/PhJ	MGP_PWKPhJ_G0024111	protein coding gene	Chr19:41249079-41292763 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023915	protein coding gene	Chr19:41636738-41678994 (-)
WSB/EiJ	MGP_WSBEiJ_G0024432	protein coding gene	Chr19:43062150-43103580 (-)

Human Ortholog

PKD2L1, polycystin 2 like 1, transient receptor potential cation channel

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKD2L1, polycystin 2 like 1, transient receptor potential cation channel
Synonyms

PCL, PKD2L, PKDL, TRPP3
Links

HGNC:9011

NCBI Gene ID: 9033

neXtProt AC: NX_Q9P0L9

UniProt: Q9P0L9
Chr Location

10q24.31; chr10:100288149-100330264 (-) GRCh38

MGI Vertebrate Homology

Pkd2l1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PKD2L1
Gene Tree

Pkd2l1

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
2 phenotypes from multigenic genotypes
24 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

14
Endonuclease-mediated

7
Targeted

5
Transgenic

2
Genomic Mutations

1 involving Pkd2l1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

50 strains or lines available
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants.

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All GO Annotations

73
GO References

14

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

727
Tissues

10
cDNA Data

10
Literature Summary

11

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pkd2l1

ZFIN pkd2l1

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All Sequences

42
RefSeq

11
UniProt

1
CCDS

CCDS29846.1

Ensembl

ENSMUSG00000037578 (Evidence)
NCBI Gene

329064

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037578	Ensembl Gene Model \| MGI Sequence Detail	44806	C57BL/6J	± kb
transcript	ENSMUST00000042026	Ensembl \| MGI Sequence Detail	3321	Not Applicable
polypeptide	ENSMUSP00000045675	Ensembl \| MGI Sequence Detail	760	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012774 polycystin-2-like protein 1

(term hierarchy)
PDB

5Z1W, 7D7E, 7D7F
InterPro Domains

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR003915 Polycystic kidney disease type 2 protein

IPR051223 Polycystin

IPR013122 Polycystin cation channel, PKD1/PKD2

IPR046791 Polycystin domain

IPR027359 Voltage-dependent channel domain superfamily
GlyGen

A2A259 4 sites, 1 N-linked glycan (2 sites)

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All nucleic 13

cDNA 11

Primer pair 2

Microarray probesets 2

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MGI:1330816, MGI:3040679

Summaries

All 70

Developmental Gene Expression 11

Gene Ontology 14

Phenotypes 24
Earliest

J:20807 Keller SA, et al., Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics. 1994 Sep 15;23(2):309-20
Latest

J:342525 Vien TN, et al., Primary cilia TRP channel regulates hippocampal excitability. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2219686120

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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