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Gene: Ppp2r1a MGI:1926334

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein phosphatase 2, regulatory subunit A, alpha
Synonyms:
6330556D22Rik,  PR65,  protein phosphatase PP2A,  PP2A

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ppp2r1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ppp2r1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
ORPHA:457284
Intellectual Developmental Disorder, Autosomal Dominant 36
OMIM:616362

The table below shows human diseases predicted to be associated to Ppp2r1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma ORPHA:166113
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multiple lipomas, Ves... ORPHA:137605
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma, Abnorma... ORPHA:221
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Prostate cancer, Neuroendocrine ... ORPHA:99889
Sotos Syndrome
Neoplasm, Neuroblastoma, Hemangioma, Small cell lung carcinoma, Cholesteatoma, Pulmonary bleb, Sa... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 36
OMIM:616362
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
ORPHA:457284

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppp2r1a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppp2r1a.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Patterning and gastrulation defects caused by the tw18 lethal are due to loss of Ppp2r1a. Biology open (June 2017) Ppp2r1atm1a(KOMP)Mbp PMC5483016

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MGI Allele Allele Type Produced
Ppp2r1atm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Ppp2r1atm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp2r1atm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp2r1atm2e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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