MOSPD2

motile sperm domain containing 2

Basic information

Region (hg38): X:14873421-14922327

Links

ENSG00000130150 ∙ NCBI:158747 ∙ OMIM:301086 ∙ HGNC:28381 ∙ Uniprot:Q8NHP6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited), mode of inheritance: XL

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MOSPD2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOSPD2 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding						0
Total	0	0	9	0	1

Variants in MOSPD2

This is a list of pathogenic ClinVar variants found in the MOSPD2 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-14895314-A-G		not specified	Uncertain significance (Oct 04, 2022)
X-14897125-A-T		not specified	Uncertain significance (Dec 01, 2022)
X-14897221-A-T		not specified	Uncertain significance (May 13, 2024)
X-14911267-G-A		not specified	Uncertain significance (Feb 22, 2023)
X-14911267-G-T		not specified	Uncertain significance (Feb 03, 2022)
X-14912260-C-T			Benign (Mar 29, 2018)
X-14912325-C-G		not specified	Uncertain significance (May 16, 2023)
X-14912325-C-T		not specified	Uncertain significance (Dec 07, 2023)
X-14914498-C-A			Benign (Mar 29, 2018)
X-14916221-G-A		not specified	Uncertain significance (Nov 18, 2022)
X-14918680-G-A		not specified	Likely benign (Jan 16, 2024)
X-14918736-A-G		not specified	Uncertain significance (Mar 16, 2022)
X-14919694-A-G		not specified	Uncertain significance (Apr 29, 2024)
X-14919721-G-A		not specified	Uncertain significance (Nov 22, 2023)
X-14919729-T-A		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOSPD2	protein_coding	protein_coding	ENST00000380492	15	48887

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.991	0.00895	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	115	177	0.649	0.0000123	3457
Missense in Polyphen		14	48.216	0.29036		942
Synonymous	2.32	37	59.8	0.619	0.00000411	892
Loss of Function	3.78	1	18.5	0.0539	0.00000117	382

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes migration of primary monocytes and neutrophils, in response to various chemokines. {ECO:0000269|PubMed:28137892}.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Intolerance Scores

• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• pHI: 0.257
• hipred: Y
• hipred_score: 0.728
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0922

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mospd2

Gene ontology

• Biological process: chemotaxis;neutrophil degranulation;positive regulation of neutrophil chemotaxis;positive regulation of monocyte chemotaxis
• Cellular component: plasma membrane;integral component of plasma membrane;membrane;specific granule membrane