MPRIP

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			5 clinvar	10 clinvar	2 clinvar	17
missense			159 clinvar	5 clinvar		164
nonsense			3 clinvar			3
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	173	15	2	190

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 62 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001364716.4	RefSeq	NP_001351645.2	24	MANE Select
ENST00000651222.2	Ensembl	ENSP00000498253.1	24	MANE Select
NM_015134.4	RefSeq	NP_055949.2	23	Standard
NM_201274.4	RefSeq	NP_958431.2	23	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Disease
EGFR1
Signaling by BRAF and RAF fusions
Oncogenic MAPK signaling
Diseases of signal transduction

Molecular Function

actin binding
protein binding
cadherin binding

Cellular Component

cytosol
focal adhesion
actin cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000395811
Coding exons: 23
Length: 175135
Individuals with no LoFs: 92588
Homozygous LoFs: 3976
Heterozygous LoFs: 29184
Defined: 125748
p: 0.142

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.81	538	670	0.803	0.0000449	6776
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.29	0.29	notable
Latino/Admixed American	0.26	0.25	notable
Ashkenazi Jewish	0.094	0.093	notable
East Asian	0.31	0.31	notable
Finnish	0.085	0.085	notable
European (Non-Finnish)	0.068	0.067	notable
South Asian	0.22	0.21	notable
Other	0.13	0.12	notable

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.160

Intolerance Scores

LoFtool: 0.371
RVIS EVS: -1.3
RVIS percentile EVS: 4.93

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): H
Indispensability pred.: E
Indispensability score: 0.690