MPRIP

myosin phosphatase Rho interacting protein, the group of Pleckstrin homology domain containing

Basic information

Region (hg38): 17:17042456-17217679

Links

ENSG00000133030 ∙ NCBI:23164 ∙ OMIM:612935 ∙ HGNC:30321 ∙ Uniprot:Q6WCQ1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MPRIP gene.

• Inborn genetic diseases (48 variants)
• not provided (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPRIP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				8	3	11
missense			47	2		49
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding					1	1
Total	0	0	47	10	5

Variants in MPRIP

This is a list of pathogenic ClinVar variants found in the MPRIP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-17042853-C-G		not specified	Uncertain significance (Jan 02, 2024)
17-17042904-A-G		not specified	Uncertain significance (Sep 06, 2022)
17-17042951-A-G		not specified	Uncertain significance (Feb 09, 2023)
17-17075720-T-C		not specified	Uncertain significance (Jan 23, 2024)
17-17075728-G-A		not specified	Uncertain significance (Jul 19, 2023)
17-17075779-C-T			Uncertain significance (Apr 01, 2022)
17-17126732-A-G		not specified	Uncertain significance (Sep 29, 2023)
17-17126828-G-A		not specified	Uncertain significance (Mar 01, 2024)
17-17131633-A-G		not specified	Uncertain significance (Jun 02, 2023)
17-17131635-G-C		not specified	Uncertain significance (Jul 19, 2023)
17-17136247-CCAGCAGCAG-C			Benign (Nov 01, 2023)
17-17136280-G-T		not specified	Uncertain significance (Jul 27, 2022)
17-17136299-A-G			Likely benign (Apr 01, 2023)
17-17136412-C-G		not specified	Uncertain significance (Oct 22, 2021)
17-17136424-G-A		not specified	Uncertain significance (Jun 23, 2021)
17-17136433-G-A		not specified	Uncertain significance (Jan 04, 2024)
17-17136438-G-A		not specified	Uncertain significance (Aug 21, 2023)
17-17137939-C-T		not specified	Uncertain significance (Oct 05, 2023)
17-17138017-G-A		not specified	Uncertain significance (Jan 23, 2024)
17-17138050-C-G		not specified	Uncertain significance (Mar 17, 2023)
17-17138397-G-A			Likely benign (Oct 01, 2022)
17-17142641-T-C		not specified	Uncertain significance (Jan 24, 2023)
17-17142660-G-C		not specified	Uncertain significance (Mar 23, 2023)
17-17142682-A-G		not specified	Uncertain significance (Jun 21, 2023)
17-17142713-C-G		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MPRIP	protein_coding	protein_coding	ENST00000395811	23	175135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.981	0.0192	92588	3976	29184	125748	0.142

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.81	538	670	0.803	0.0000449	6776
Missense in Polyphen		121	231.6	0.52246		2503
Synonymous	0.0329	273	274	0.997	0.0000187	2004
Loss of Function	5.71	10	56.2	0.178	0.00000280	632

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.554	0.551
Ashkenazi Jewish	0.0944	0.0930
East Asian	0.312	0.313
Finnish	0.0846	0.0847
European (Non-Finnish)	0.0678	0.0671
Middle Eastern	0.312	0.313
South Asian	0.218	0.215
Other	0.127	0.124

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin. Overexpression of MRIP as well as its F- actin-binding region leads to disassembly of stress fibers in neuronal cells. {ECO:0000250|UniProtKB:P97434, ECO:0000269|PubMed:15545284, ECO:0000269|PubMed:16257966}.
• Pathway: Disease;EGFR1;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction (Consensus)

Recessive Scores

• pRec: 0.160

Intolerance Scores

• loftool: 0.371
• rvis_EVS: -1.3
• rvis_percentile_EVS: 4.93

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.762
• ghis: 0.618

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.690

Mouse Genome Informatics

• Gene name: Mprip

Gene ontology

• Cellular component: cytosol;focal adhesion;actin cytoskeleton
• Molecular function: actin binding;protein binding;cadherin binding