PRLHR

prolactin releasing hormone receptor, the group of Peptide receptors

Basic information

Region (hg38): 10:118589997-118595648

Previous symbols: [ "GPR10" ]

Links

ENSG00000119973 ∙ NCBI:2834 ∙ OMIM:600895 ∙ HGNC:4464 ∙ Uniprot:P49683 ∙ 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 PRLHR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRLHR 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					1	1
missense			42	1		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	1	1

Variants in PRLHR

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

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

Position	Type	Phenotype	Significance	ClinVar
10-118594146-T-C		not specified	Uncertain significance (Mar 18, 2024)
10-118594155-T-C		not specified	Uncertain significance (Sep 12, 2024)
10-118594166-T-C		not specified	Uncertain significance (Mar 20, 2024)
10-118594167-G-A		not specified	Uncertain significance (Nov 15, 2024)
10-118594170-G-A		not specified	Uncertain significance (Jul 14, 2023)
10-118594173-C-T		not specified	Uncertain significance (Jun 04, 2024)
10-118594175-A-C		not specified	Uncertain significance (Dec 05, 2022)
10-118594209-G-A			Benign (Dec 13, 2017)
10-118594211-T-A		not specified	Uncertain significance (Apr 09, 2024)
10-118594228-G-C		not specified	Uncertain significance (May 24, 2024)
10-118594272-T-C		not specified	Uncertain significance (Mar 12, 2024)
10-118594299-C-A		not specified	Uncertain significance (Mar 07, 2024)
10-118594301-A-T		not specified	Uncertain significance (Oct 25, 2023)
10-118594437-G-C		not specified	Uncertain significance (Apr 08, 2024)
10-118594466-C-T		not specified	Uncertain significance (Sep 11, 2024)
10-118594473-G-A		not specified	Uncertain significance (Oct 28, 2024)
10-118594482-G-T		not specified	Uncertain significance (Nov 29, 2024)
10-118594505-C-A		not specified	Uncertain significance (Aug 15, 2023)
10-118594509-C-G		not specified	Uncertain significance (Sep 27, 2021)
10-118594512-A-T		not specified	Uncertain significance (Aug 23, 2021)
10-118594527-C-T		not specified	Uncertain significance (Sep 29, 2023)
10-118594539-G-A		not specified	Uncertain significance (Nov 15, 2021)
10-118594547-G-A		not specified	Uncertain significance (Mar 27, 2023)
10-118594581-G-T		not specified	Uncertain significance (Mar 20, 2023)
10-118594616-A-G		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRLHR	protein_coding	protein_coding	ENST00000239032	1	2245

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000771	0.535	125635	0	45	125680	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.406	250	233	1.07	0.0000129	2279
Missense in Polyphen		101	92.815	1.0882		957
Synonymous	0.471	109	115	0.944	0.00000681	854
Loss of Function	0.553	7	8.77	0.799	3.80e-7	82

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000643	0.000627
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000723	0.0000704
Middle Eastern	0.000114	0.000109
South Asian	0.000560	0.000555
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding (Consensus)

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.633
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.46

Haploinsufficiency Scores

• pHI: 0.195
• hipred: N
• hipred_score: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.894

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prlhr
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;female pregnancy;feeding behavior;hormone metabolic process
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;neuropeptide Y receptor activity;protein binding;neuropeptide receptor activity