OR51M1

olfactory receptor family 51 subfamily M member 1, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:5383811-5393263

Links

ENSG00000184698 ∙ NCBI:390059 ∙ ∙ HGNC:14847 ∙ Uniprot:Q9H341 ∙ 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 OR51M1 gene.

• Inborn genetic diseases (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51M1 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			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in OR51M1

This is a list of pathogenic ClinVar variants found in the OR51M1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5389455-G-C		not specified	Uncertain significance (Nov 18, 2022)
11-5389513-A-G		not specified	Uncertain significance (Jul 12, 2022)
11-5389536-G-A		not specified	Uncertain significance (Jan 10, 2022)
11-5389559-A-T		not specified	Uncertain significance (Mar 17, 2023)
11-5389595-G-A		not specified	Likely benign (Nov 21, 2022)
11-5389645-C-G		not specified	Uncertain significance (Jun 09, 2022)
11-5389657-G-A		not specified	Uncertain significance (Oct 13, 2023)
11-5389712-A-G		not specified	Uncertain significance (Jul 06, 2021)
11-5389777-C-T		not specified	Uncertain significance (Apr 08, 2022)
11-5389856-T-A		not specified	Uncertain significance (Oct 02, 2023)
11-5389906-C-T		not specified	Uncertain significance (Feb 03, 2022)
11-5390035-A-C		not specified	Uncertain significance (Aug 02, 2021)
11-5390056-A-T		not specified	Uncertain significance (Feb 07, 2023)
11-5390084-C-T		not specified	Uncertain significance (Jan 23, 2024)
11-5390137-C-A		not specified	Uncertain significance (Dec 21, 2022)
11-5390138-G-A		not specified	Likely benign (Dec 01, 2022)
11-5390158-A-G		not specified	Uncertain significance (Nov 08, 2022)
11-5390202-G-A		not specified	Uncertain significance (Mar 23, 2023)
11-5390243-C-A		not specified	Uncertain significance (Feb 10, 2023)
11-5390267-A-G		not specified	Uncertain significance (Sep 14, 2022)
11-5390279-T-C		not specified	Uncertain significance (Jul 25, 2023)
11-5390338-G-A		not specified	Uncertain significance (Dec 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51M1	protein_coding	protein_coding	ENST00000328611	1	1058

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00453	0.693	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.30	227	178	1.27	0.00000941	2117
Missense in Polyphen		77	63.913	1.2048		766
Synonymous	-1.83	89	69.6	1.28	0.00000361	692
Loss of Function	0.674	4	5.74	0.697	2.48e-7	76

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: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);Olfactory receptor activity;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0842

Intolerance Scores

• loftool: 0.768
• rvis_EVS: 2.04
• rvis_percentile_EVS: 97.75

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00207

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr631

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity