MORN2

MORN repeat containing 2

Basic information

Region (hg38): 2:38875975-38929072

Links

ENSG00000188010 ∙ NCBI:729967 ∙ ∙ HGNC:30166 ∙ Uniprot:Q502X0 ∙ 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 MORN2 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MORN2 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						0
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in MORN2

This is a list of pathogenic ClinVar variants found in the MORN2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-38881478-G-A		not specified	Uncertain significance (Apr 28, 2023)
2-38881536-T-C		not specified	Uncertain significance (Jan 08, 2024)
2-38881554-A-G		not specified	Uncertain significance (Nov 17, 2022)
2-38919458-C-A		not specified	Uncertain significance (Sep 27, 2021)
2-38919464-C-G		not specified	Uncertain significance (Mar 21, 2023)
2-38921415-A-T		not specified	Uncertain significance (Aug 02, 2022)
2-38928994-G-A		not specified	Uncertain significance (Jan 26, 2022)
2-38929069-A-C		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MORN2	protein_coding	protein_coding	ENST00000410014	2	53111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.153	0.648	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0618	30	31.0	0.969	0.00000131	519
Missense in Polyphen		8	10.789	0.74147		165
Synonymous	1.20	6	11.1	0.542	4.79e-7	139
Loss of Function	0.707	1	2.11	0.475	8.75e-8	40

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: Might have a role in spermatogenesis. {ECO:0000250|UniProtKB:Q6UL01}.

Recessive Scores

• pRec: 0.0903

Intolerance Scores

• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.75

Haploinsufficiency Scores

• pHI: 0.189

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.294

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Morn2

Gene ontology

• Biological process: spermatogenesis;cell differentiation
• Cellular component: acrosomal vesicle;nucleus
• Molecular function: protein binding