PAQR5

progestin and adipoQ receptor family member 5, the group of Progestin and adipoQ receptor family

Basic information

Region (hg38): 15:69298912-69407780

Links

ENSG00000137819 ∙ NCBI:54852 ∙ OMIM:607781 ∙ HGNC:29645 ∙ Uniprot:Q9NXK6 ∙ 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 PAQR5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAQR5 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in PAQR5

This is a list of pathogenic ClinVar variants found in the PAQR5 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-69360088-G-A		not specified	Uncertain significance (Jun 17, 2022)
15-69360121-A-G		not specified	Uncertain significance (Mar 28, 2024)
15-69379917-G-A		not specified	Uncertain significance (Dec 12, 2023)
15-69379985-A-T		not specified	Uncertain significance (Dec 18, 2023)
15-69384721-T-C		not specified	Uncertain significance (Sep 13, 2023)
15-69384734-C-A		not specified	Uncertain significance (Jan 10, 2023)
15-69384783-C-T		not specified	Uncertain significance (Jul 27, 2021)
15-69384799-C-T		not specified	Uncertain significance (Jul 14, 2021)
15-69384817-T-C		not specified	Uncertain significance (Oct 10, 2023)
15-69384831-C-T		not specified	Uncertain significance (Jun 30, 2022)
15-69384864-G-A		not specified	Uncertain significance (Dec 27, 2023)
15-69389711-T-C		not specified	Uncertain significance (Dec 13, 2021)
15-69397475-G-A		not specified	Uncertain significance (Nov 09, 2022)
15-69397560-A-G		not specified	Uncertain significance (Jan 06, 2023)
15-69399974-C-G		not specified	Uncertain significance (Jan 10, 2023)
15-69403638-A-C		not specified	Uncertain significance (May 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAQR5	protein_coding	protein_coding	ENST00000340965	7	108834

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0372	0.956	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.772	161	191	0.843	0.0000104	2181
Missense in Polyphen		68	85.582	0.79456		967
Synonymous	0.305	72	75.4	0.955	0.00000431	635
Loss of Function	2.38	5	14.9	0.335	6.34e-7	168

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000731	0.000731
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.000328	0.000325
Middle Eastern	0.000163	0.000163
South Asian	0.0000980	0.0000980
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167). {ECO:0000269|PubMed:12601167, ECO:0000303|PubMed:23763432}.
• Pathway: how progesterone initiates the oocyte maturation (Consensus)

Recessive Scores

• pRec: 0.145

Intolerance Scores

• loftool: 0.723
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.92

Haploinsufficiency Scores

• pHI: 0.145
• hipred: N
• hipred_score: 0.318
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.274

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Paqr5

Gene ontology

• Biological process: multicellular organism development;oogenesis
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: steroid binding;protein binding;signaling receptor activity