PRR16

proline rich 16

Basic information

Region (hg38): 5:120464299-120687332

Links

ENSG00000184838 ∙ NCBI:51334 ∙ OMIM:615931 ∙ HGNC:29654 ∙ Uniprot:Q569H4 ∙ 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 PRR16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR16 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in PRR16

This is a list of pathogenic ClinVar variants found in the PRR16 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-120481255-C-A		not specified	Uncertain significance (Dec 15, 2023)
5-120686001-T-G		not specified	Uncertain significance (May 23, 2023)
5-120686030-C-T		not specified	Uncertain significance (Aug 26, 2022)
5-120686049-T-A		not specified	Uncertain significance (Apr 24, 2023)
5-120686056-A-G		not specified	Uncertain significance (Nov 29, 2023)
5-120686078-T-C		not specified	Uncertain significance (Oct 06, 2022)
5-120686138-C-T		not specified	Uncertain significance (Dec 28, 2022)
5-120686168-C-A		not specified	Uncertain significance (Sep 14, 2021)
5-120686233-G-T		not specified	Uncertain significance (Sep 20, 2023)
5-120686254-C-G		not specified	Uncertain significance (Apr 06, 2024)
5-120686303-A-G		not specified	Uncertain significance (Jul 11, 2023)
5-120686405-G-A		not specified	Uncertain significance (May 27, 2022)
5-120686429-A-G		not specified	Uncertain significance (Oct 02, 2023)
5-120686462-G-C		not specified	Uncertain significance (Jun 27, 2022)
5-120686591-G-C		not specified	Uncertain significance (Sep 16, 2021)
5-120686623-C-A		not specified	Uncertain significance (Feb 28, 2023)
5-120686671-A-C		not specified	Uncertain significance (Dec 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR16	protein_coding	protein_coding	ENST00000379551	2	223055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0786	0.877	125731	0	10	125741	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.800	183	155	1.18	0.00000800	1808
Missense in Polyphen		70	68.176	1.0268		754
Synonymous	1.09	50	60.8	0.822	0.00000326	611
Loss of Function	1.71	3	8.33	0.360	6.16e-7	87

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000293	0.0000293
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000530	0.0000527
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mitochondrial mass and respiration. {ECO:0000269|PubMed:24656129}.

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.38

Haploinsufficiency Scores

• pHI: 0.181
• hipred: N
• hipred_score: 0.290
• ghis: 0.426

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prr16

Gene ontology

• Biological process: positive regulation of translation;positive regulation of cell size
• Molecular function: protein binding