PRR5

proline rich 5, the group of MTOR complex 2

Basic information

Region (hg38): 22:44668547-44737681

Links

ENSG00000186654

∙ NCBI:55615 ∙ OMIM:609406 ∙ HGNC:31682 ∙ Uniprot:P85299 ∙ 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 PRR5 gene.

not_specified (57 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181333.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			55 clinvar	3 clinvar		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR5	protein_coding	protein_coding	ENST00000403581	9	68969

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0669	0.930	125693	0	37	125730	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.240	276	265	1.04	0.0000184	2596
Missense in Polyphen		91	94.502	0.96295		1000
Synonymous	-0.406	131	125	1.05	0.00000916	866
Loss of Function	2.63	5	16.6	0.302	7.06e-7	197

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000242	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.000445	0.000435
Finnish	0.000100	0.0000924
European (Non-Finnish)	0.000127	0.000123
Middle Eastern	0.000445	0.000435
South Asian	0.000212	0.000196
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. PRR5 plays an important role in regulation of PDGFRB expression and in modulation of platelet-derived growth factor signaling. May act as a tumor suppressor in breast cancer. {ECO:0000269|PubMed:15718101, ECO:0000269|PubMed:17599906}.;
Pathway: mTOR signaling pathway - Homo sapiens (human);Target Of Rapamycin (TOR) Signaling;Disease;Signal Transduction;Gene expression (Transcription);VEGFA-VEGFR2 Pathway;Generic Transcription Pathway;CD28 dependent PI3K/Akt signaling;CD28 co-stimulation;Costimulation by the CD28 family;RNA Polymerase II Transcription;Immune System;Adaptive Immune System;Regulation of TP53 Degradation;Regulation of TP53 Expression and Degradation;PIP3 activates AKT signaling;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Signaling by VEGF;Constitutive Signaling by AKT1 E17K in Cancer;PI3K/AKT Signaling in Cancer;Signaling by Receptor Tyrosine Kinases;Intracellular signaling by second messengers;mTOR signaling pathway;Diseases of signal transduction;VEGFR2 mediated vascular permeability (Consensus)

Recessive Scores

pRec: 0.139

Intolerance Scores

loftool: 0.655
rvis_EVS: 0.44
rvis_percentile_EVS: 77.91

Haploinsufficiency Scores

pHI
hipred: Y
hipred_score: 0.640
ghis: 0.460

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.895

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Prr5
Phenotype

Gene ontology

Biological process: cell cycle;positive regulation of phosphatidylinositol 3-kinase signaling;activation of protein kinase B activity;TORC2 signaling
Cellular component: cytosol;TORC2 complex
Molecular function: protein binding