Cnp MGI Mouse Gene Detail - MGI:88437 - 2',3'-cyclic nucleotide 3' phosphodiesterase

Symbol

Cnp
Name

2',3'-cyclic nucleotide 3' phosphodiesterase
Synonyms

Cnp-1, Cnp1, CNPase

Feature Type

protein coding gene
IDs

MGI:88437
NCBI Gene: 12799
Alliance

gene page
Transcription Start Sites

7 TSS
Candidate for QTL

1 QTL

Sequence Map

Chr11:100465765-100472565 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 63.47 cM
Mapping Data

9 experiments

SNPs within 2kb

282 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88437	protein coding gene	Chr11:100465730-100482555 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019160	protein coding gene	Chr11:103337618-103354430 (+)
A/J	MGP_AJ_G0019128	protein coding gene	Chr11:99026496-99043292 (+)
AKR/J	MGP_AKRJ_G0019097	protein coding gene	Chr11:102087071-102103845 (+)
BALB/cJ	MGP_BALBcJ_G0019102	protein coding gene	Chr11:99510292-99527049 (+)
C3H/HeJ	MGP_C3HHeJ_G0018911	protein coding gene	Chr11:102274179-102290959 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019551	protein coding gene	Chr11:106554389-106572356 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017177	protein coding gene	Chr11:96445347-96462370 (+)
CAST/EiJ	MGP_CASTEiJ_G0018465	protein coding gene	Chr11:103249970-103266834 (+)
CBA/J	MGP_CBAJ_G0018880	protein coding gene	Chr11:110985768-111002531 (+)
DBA/2J	MGP_DBA2J_G0018992	protein coding gene	Chr11:98563092-98580123 (+)
FVB/NJ	MGP_FVBNJ_G0018982	protein coding gene	Chr11:98099117-98115889 (+)
LP/J	MGP_LPJ_G0019061	protein coding gene	Chr11:103900319-103917078 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019013	protein coding gene	Chr11:110588610-110605387 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019589	protein coding gene	Chr11:102421248-102439095 (+)
PWK/PhJ	MGP_PWKPhJ_G0018228	protein coding gene	Chr11:99603098-99619966 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018020	protein coding gene	Chr11:102156050-102172895 (+)
WSB/EiJ	MGP_WSBEiJ_G0018514	protein coding gene	Chr11:102404475-102421222 (+)

Human Ortholog

CNP, 2',3'-cyclic nucleotide 3' phosphodiesterase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CNP, 2',3'-cyclic nucleotide 3' phosphodiesterase
Synonyms

CNP1, HLD20
Links

HGNC:2158

NCBI Gene ID: 1267

neXtProt AC: NX_P09543

UniProt: P09543
Chr Location

17q21.2; chr17:41966763-41977740 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: CNP
Protein SuperFamily

CNPase
Gene Tree

Cnp

Diseases

3 with human CNP associations

				Human Disease	Mouse Models
				hypomyelinating leukodystrophy 20 IDs hypomyelinating leukodystrophy 20 DOID:0112153 OMIM:619071
				multiple sclerosis IDs multiple sclerosis DOID:2377 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:612594 OMIM:612595 OMIM:612596 UMLS_CUI:C0026769
				schizophrenia IDs schizophrenia DOID:5419 DOID:14734 ICD10CM:F20 ICD9CM:295 ICD9CM:295.8 ICD9CM:295.80 ICD9CM:295.9 ICD9CM:295.90 MESH:D012559 NCI:C3362 OMIM:181500 UMLS_CUI:C0036341

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

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

15 phenotypes from 2 alleles in 3 genetic backgrounds
77 phenotypes from multigenic genotypes
202 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

2
Gene trapped

2
Targeted

10
Genomic Mutations

3 involving Cnp
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous inactivation of this gene results in ataxia, gait abnormalities, hindlimb paralysis, muscle weakness, convulsive seizures, weight loss, kyphosis, reactive gliosis, axonal swellings and degeneration, and premature death.

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All GO Annotations

41
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

815
Tissues

51
cDNA Data

97
Literature Summary

84

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cnp

ZFIN cnp

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All Sequences

59
RefSeq

4
UniProt

4
CCDS

CCDS25427.1

Ensembl

ENSMUSG00000006782 (Evidence)
NCBI Gene

12799

			Length	Strain/Species	Flank
genomic	12799	NCBI Gene Model \| MGI Sequence Detail	6801	C57BL/6J	± kb
transcript	NM_001146318	RefSeq \| MGI Sequence Detail	2548	ZRU/MplStud
polypeptide	P16330	UniProt \| EBI \| MGI Sequence Detail	420	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000005657 2',3'-cyclic-nucleotide 3'-phosphodiesterase

(term hierarchy)
PDB

2XMI, 2Y1P, 2Y3X, 2YDB, 2YDC, 2YDD, 2YOZ, 2YP0, 2YPC, 2YPE, 2YPH, 2YQ9, 3ZBR, 3ZBS, 3ZBZ, 4WBI, 4WBL, 4WC9, 4WCA, 4WCB, 4WCC, 4WDA, 4WDB, 4WDD, 4WDE, 4WDF, 4WDG, 4WDH, 4WEX, 4WFR, 5AE0, 7QZK, 7QZS
EC

3.1.4.37
InterPro Domains

IPR008431 Cyclic nucleotide phosphodiesterase

IPR047325 Cyclic nucleotide phosphodiesterase, catalytic domain

IPR009097 Cyclic phosphodiesterase

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

P16330 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 110

Genomic 9

cDNA 100

Other 1

Microarray probesets 4

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MGD-MRK-2039, MGD-MRK-2041

Summaries

All 338

Developmental Gene Expression 84

Diseases 2

Gene Ontology 14

Phenotypes 202
Earliest

J:32316 Bernier L, et al., Molecular cloning of a 2',3'-cyclic nucleotide 3'-phosphodiesterase: mRNAs with different 5' ends encode the same set of proteins in nervous and lymphoid tissues. J Neurosci. 1987 Sep;7(9):2703-10
Latest

J:353360 Cesari E, et al., Differential expression of paralog RNA binding proteins establishes a dynamic splicing program required for normal cerebral cortex development. Nucleic Acids Res. 2024 May 8;52(8):4167-4184

TSS for Cnp:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr104944	Chr11:100465791-100465808 (+)	35 bp
Tssr104945	Chr11:100466623-100466641 (+)	867 bp
Tssr104946	Chr11:100466708-100466726 (+)	952 bp
Tssr104947	Chr11:100471615-100471640 (+)	5,863 bp
Tssr104948	Chr11:100471654-100471677 (+)	5,901 bp
Tssr104949	Chr11:100471710-100471715 (+)	5,948 bp
Tssr104950	Chr11:100472109-100472124 (+)	6,352 bp

Cnp is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Lore4	Chr11, syntenic	Chr11:79156009-107616472	J:93175	Potential candidate genes mapping near Lore4 on mouse Chromosome 11 are Gabarap, Slc6a4 (42 cM), Pparbp, Cnp1 (61 cM), Hcrt (61.2 cM), and Gfap (62 cM). Pparbp, Cnp1, and Gfap have been sequenced and are polymorphic between inbred strains LS and IS.

*cM position of peak correlated region/marker

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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