PAQR9

progestin and adipoQ receptor family member 9, the group of Progestin and adipoQ receptor family

Basic information

Region (hg38): 3:142949163-142963674

Links

ENSG00000188582 ∙ NCBI:344838 ∙ OMIM:614580 ∙ HGNC:30131 ∙ Uniprot:Q6ZVX9 ∙ 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 PAQR9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAQR9 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					2	2
missense			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	2

Variants in PAQR9

This is a list of pathogenic ClinVar variants found in the PAQR9 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-142962241-T-C		not specified	Uncertain significance (Dec 03, 2021)
3-142962303-G-C		not specified	Uncertain significance (Apr 22, 2022)
3-142962724-G-A		not specified	Uncertain significance (Sep 13, 2023)
3-142962878-G-A			Benign (May 08, 2018)
3-142963021-A-G		not specified	Uncertain significance (Aug 05, 2023)
3-142963131-G-A		not specified	Uncertain significance (Sep 29, 2023)
3-142963146-C-T		not specified	Uncertain significance (Dec 13, 2023)
3-142963166-G-A			Benign (May 08, 2018)
3-142963228-G-A		not specified	Uncertain significance (Oct 25, 2022)
3-142963240-C-G		not specified	Uncertain significance (Jun 11, 2021)
3-142963276-C-T		not specified	Uncertain significance (Nov 03, 2022)
3-142963282-C-T		not specified	Likely benign (Sep 01, 2021)
3-142963312-C-T		not specified	Uncertain significance (Apr 07, 2023)
3-142963333-G-A		not specified	Uncertain significance (Aug 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAQR9	protein_coding	protein_coding	ENST00000340634	1	14173

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.137	0.845	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.83	123	248	0.495	0.0000167	2399
Missense in Polyphen		34	105.17	0.32329		987
Synonymous	0.698	114	124	0.920	0.00000944	808
Loss of Function	2.03	3	9.91	0.303	4.26e-7	101

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: Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870). {ECO:0000269|PubMed:23161870, ECO:0000303|PubMed:23763432}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.111
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.37

Haploinsufficiency Scores

• pHI: 0.533
• hipred: Y
• hipred_score: 0.580
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.380

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Paqr9

Gene ontology

• Cellular component: plasma membrane;integral component of membrane
• Molecular function: steroid binding;signaling receptor activity