OR5B12

olfactory receptor family 5 subfamily B member 12, the group of Olfactory receptors, family 5

Basic information

Region (hg38): 11:58438994-58442236

Previous symbols: [ "OR5B12P", "OR5B16" ]

Links

ENSG00000172362 ∙ NCBI:390191 ∙ ∙ HGNC:15432 ∙ Uniprot:Q96R08 ∙ 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 OR5B12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR5B12 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in OR5B12

This is a list of pathogenic ClinVar variants found in the OR5B12 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-58439232-T-G		not specified	Uncertain significance (Mar 20, 2023)
11-58439293-C-A		not specified	Uncertain significance (Nov 07, 2022)
11-58439314-T-C		not specified	Uncertain significance (Feb 15, 2023)
11-58439385-A-C		not specified	Uncertain significance (Jan 26, 2023)
11-58439410-T-C		not specified	Uncertain significance (Oct 26, 2022)
11-58439426-G-T		not specified	Uncertain significance (Oct 26, 2022)
11-58439475-A-G		not specified	Uncertain significance (Dec 14, 2022)
11-58439542-T-C		not specified	Uncertain significance (Aug 12, 2022)
11-58439568-A-G		not specified	Uncertain significance (Jan 16, 2024)
11-58439708-G-C		not specified	Uncertain significance (May 03, 2023)
11-58439713-A-G		not specified	Uncertain significance (Feb 15, 2023)
11-58439761-T-C		not specified	Uncertain significance (Jun 16, 2024)
11-58439823-C-T		not specified	Likely benign (Nov 02, 2023)
11-58439872-C-A		not specified	Uncertain significance (May 30, 2024)
11-58439879-T-A		not specified	Uncertain significance (Sep 30, 2021)
11-58439925-G-A		not specified	Uncertain significance (May 30, 2024)
11-58439961-A-C		not specified	Uncertain significance (Apr 26, 2023)
11-58439974-A-G		not specified	Uncertain significance (May 03, 2023)
11-58439985-G-C		not specified	Uncertain significance (Mar 21, 2023)
11-58440000-G-A		not specified	Uncertain significance (Dec 21, 2022)
11-58440007-G-T		not specified	Uncertain significance (Jun 10, 2024)
11-58440040-C-A		not specified	Uncertain significance (Jan 24, 2024)
11-58440046-T-C		not specified	Uncertain significance (Aug 04, 2023)
11-58440072-A-G		not specified	Uncertain significance (May 18, 2022)
11-58440118-G-A		not specified	Uncertain significance (Nov 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR5B12	protein_coding	protein_coding	ENST00000302572	1	1054

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0203	0.761	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.641	190	167	1.14	0.00000771	2077
Missense in Polyphen		31	32.017	0.96823		497
Synonymous	-0.636	68	61.6	1.10	0.00000267	641
Loss of Function	0.858	3	5.09	0.589	2.82e-7	80

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)

Intolerance Scores

• loftool: 0.718
• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.79

Haploinsufficiency Scores

• pHI: 0.0960
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1448

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;odorant binding