MPP1

MAGUK p55 scaffold protein 1, the group of PDZ domain containing|Membrane associated guanylate kinases

Basic information

Region (hg38): X:154778684-154821007

Previous symbols: [ "DXS552E" ]

Links

ENSG00000130830 ∙ NCBI:4354 ∙ OMIM:305360 ∙ HGNC:7219 ∙ Uniprot:Q00013 ∙ 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 MPP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPP1 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				1		1
missense			19	1	1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding				1	1	2
Total	0	0	19	3	2

Variants in MPP1

This is a list of pathogenic ClinVar variants found in the MPP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-154779214-C-T		not specified	Uncertain significance (Oct 25, 2022)
X-154779227-C-T		not specified	Uncertain significance (Dec 28, 2024)
X-154779253-G-T		not specified	Uncertain significance (Aug 08, 2023)
X-154779320-C-T		not specified	Uncertain significance (Jan 28, 2025)
X-154781297-C-T		not specified	Uncertain significance (Jul 20, 2021)
X-154781610-A-G		not specified	Uncertain significance (Jul 22, 2024)
X-154781625-A-G		not specified	Uncertain significance (Apr 28, 2022)
X-154781730-G-A		not specified	Uncertain significance (Feb 07, 2025)
X-154781790-G-A		not specified	Uncertain significance (Nov 13, 2024)
X-154783515-G-A			Likely benign (Feb 25, 2018)
X-154784099-T-G		not specified	Uncertain significance (Mar 28, 2022)
X-154785076-G-T		not specified	Uncertain significance (Oct 20, 2021)
X-154785108-T-G		not specified	Uncertain significance (Mar 31, 2024)
X-154785116-G-A		not specified	Uncertain significance (Oct 07, 2024)
X-154785132-C-A		not specified	Uncertain significance (Mar 08, 2025)
X-154785146-C-T		not specified	Uncertain significance (Nov 26, 2024)
X-154786252-G-A		not specified	Uncertain significance (Aug 28, 2024)
X-154786393-A-G		not specified	Uncertain significance (Oct 05, 2023)
X-154790000-G-A		not specified	Uncertain significance (May 02, 2023)
X-154792132-G-A			Likely benign (Dec 05, 2017)
X-154792165-C-G		not specified	Uncertain significance (Sep 22, 2023)
X-154792188-C-T		not specified	Uncertain significance (Feb 24, 2025)
X-154792207-C-A			Benign (Dec 14, 2017)
X-154792235-C-T			Likely benign (Mar 30, 2018)
X-154792236-C-T		not specified	Uncertain significance (Mar 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MPP1	protein_coding	protein_coding	ENST00000369534	12	42324

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.988	0.0123	125685	0	2	125687	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.67	119	183	0.652	0.0000142	3075
Missense in Polyphen		35	64.451	0.54305		1252
Synonymous	0.512	69	74.6	0.925	0.00000612	877
Loss of Function	3.68	1	17.7	0.0565	0.00000125	302

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000760	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000151	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity). {ECO:0000250}.
• Pathway: MECP2 and Associated Rett Syndrome (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.0774
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.886
• hipred: Y
• hipred_score: 0.654
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.968

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mpp1
• Phenotype: immune system phenotype; reproductive system phenotype; hematopoietic system phenotype; cellular phenotype

Gene ontology

• Biological process: signal transduction;GMP metabolic process;GDP metabolic process;regulation of neutrophil chemotaxis
• Cellular component: cytosol;plasma membrane;membrane;nuclear speck;cortical cytoskeleton;stereocilium
• Molecular function: guanylate kinase activity;protein binding