OR51I2

olfactory receptor family 51 subfamily I member 2, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:5449323-5456518

Links

ENSG00000187918 ∙ NCBI:390064 ∙ ∙ HGNC:15201 ∙ Uniprot:Q9H344 ∙ 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 OR51I2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51I2 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	3	1	25
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	3	1

Variants in OR51I2

This is a list of pathogenic ClinVar variants found in the OR51I2 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5453560-C-G		not specified	Uncertain significance (Apr 11, 2023)
11-5453574-G-C		not specified	Uncertain significance (Nov 07, 2022)
11-5453585-G-A		not specified	Uncertain significance (Sep 22, 2022)
11-5453594-G-A		not specified	Uncertain significance (Nov 06, 2023)
11-5453640-T-C		not specified	Uncertain significance (Jul 26, 2021)
11-5453648-A-G		not specified	Uncertain significance (Aug 04, 2021)
11-5453664-T-C			Benign (Oct 29, 2020)
11-5453690-T-C		not specified	Uncertain significance (Jul 19, 2023)
11-5453828-A-G		not specified	Uncertain significance (Apr 20, 2024)
11-5453853-G-A		not specified	Uncertain significance (Jun 10, 2024)
11-5453873-C-G		not specified	Uncertain significance (Feb 28, 2024)
11-5453879-C-T		not specified	Uncertain significance (Sep 16, 2021)
11-5453910-T-C		not specified	Uncertain significance (May 27, 2022)
11-5453918-A-G		not specified	Uncertain significance (May 09, 2023)
11-5453960-C-A		not specified	Uncertain significance (Sep 26, 2023)
11-5454020-T-C		not specified	Uncertain significance (May 18, 2022)
11-5454039-T-C		not specified	Uncertain significance (Nov 08, 2022)
11-5454101-T-C		not specified	Uncertain significance (Aug 04, 2021)
11-5454156-G-A		not specified	Likely benign (Feb 06, 2023)
11-5454188-C-T		not specified	Uncertain significance (Oct 20, 2021)
11-5454230-G-A		not specified	Uncertain significance (May 09, 2022)
11-5454263-T-C		not specified	Uncertain significance (Dec 26, 2023)
11-5454269-G-A		not specified	Uncertain significance (Mar 31, 2023)
11-5454291-T-C		not specified	Likely benign (Aug 04, 2023)
11-5454344-G-C		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51I2	protein_coding	protein_coding	ENST00000341449	1	1070

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0367	0.843	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.50	231	175	1.32	0.00000936	2038
Missense in Polyphen		84	59.393	1.4143		781
Synonymous	-0.896	71	62.0	1.14	0.00000283	665
Loss of Function	1.25	3	6.40	0.469	5.10e-7	64

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: 0.912
• rvis_EVS: 1.22
• rvis_percentile_EVS: 93.19

Haploinsufficiency Scores

• pHI: 0.0531
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0424

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr641

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