MRS2

magnesium transporter MRS2

Basic information

Region (hg38): 6:24402908-24426194

Previous symbols: [ "MRS2L" ]

Links

ENSG00000124532 ∙ NCBI:57380 ∙ OMIM:619307 ∙ HGNC:13785 ∙ Uniprot:Q9HD23 ∙ 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 MRS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRS2 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in MRS2

This is a list of pathogenic ClinVar variants found in the MRS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-24403068-C-T		not specified	Uncertain significance (Oct 26, 2022)
6-24403083-C-G		not specified	Uncertain significance (Mar 01, 2024)
6-24403102-G-A		not specified	Uncertain significance (May 27, 2022)
6-24403152-G-A		not specified	Uncertain significance (Sep 12, 2023)
6-24405180-G-A		not specified	Uncertain significance (Dec 14, 2022)
6-24405180-G-C		not specified	Uncertain significance (Dec 06, 2022)
6-24408421-A-C		not specified	Uncertain significance (Jan 02, 2024)
6-24409570-G-T		not specified	Uncertain significance (Aug 17, 2021)
6-24412281-C-G		not specified	Uncertain significance (Dec 13, 2023)
6-24412345-T-C		not specified	Uncertain significance (Jun 13, 2024)
6-24412349-C-T		not specified	Uncertain significance (May 23, 2024)
6-24415051-A-G		not specified	Uncertain significance (Oct 05, 2021)
6-24415073-T-G		not specified	Uncertain significance (Feb 17, 2022)
6-24415103-A-T		not specified	Uncertain significance (Oct 05, 2022)
6-24415118-C-T		not specified	Uncertain significance (Apr 04, 2024)
6-24415130-G-A		not specified	Uncertain significance (Jan 03, 2022)
6-24416432-A-G		not specified	Uncertain significance (Oct 04, 2022)
6-24418149-G-A		not specified	Uncertain significance (Jun 11, 2024)
6-24418197-T-C		not specified	Uncertain significance (Aug 11, 2022)
6-24422946-A-G		not specified	Likely benign (Mar 19, 2024)
6-24422965-G-A		not specified	Uncertain significance (Jan 11, 2023)
6-24422993-C-G		not specified	Uncertain significance (Apr 04, 2023)
6-24423000-C-T		not specified	Uncertain significance (May 13, 2024)
6-24423599-A-G		not specified	Uncertain significance (Jul 14, 2021)
6-24423608-C-T		not specified	Uncertain significance (Feb 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRS2	protein_coding	protein_coding	ENST00000378386	11	22658

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.95e-8	0.873	125687	0	61	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.703	207	237	0.872	0.0000119	2863
Missense in Polyphen		64	77.071	0.8304		1010
Synonymous	-0.415	93	88.1	1.06	0.00000427	872
Loss of Function	1.67	16	25.0	0.640	0.00000134	284

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000408	0.000405
Ashkenazi Jewish	0.00	0.00
East Asian	0.000277	0.000272
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000301	0.000299
Middle Eastern	0.000277	0.000272
South Asian	0.000242	0.000229
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix (PubMed:11401429, PubMed:18384665). Required for normal expression of the mitochondrial respiratory complex I subunits (PubMed:18384665). {ECO:0000269|PubMed:11401429, ECO:0000269|PubMed:18384665}.
• Pathway: Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Recessive Scores

• pRec: 0.465

Intolerance Scores

• loftool: 0.884
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.66

Haploinsufficiency Scores

• pHI: 0.261
• hipred: N
• hipred_score: 0.406
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.102

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrs2

Gene ontology

• Biological process: magnesium ion transport;mitochondrial magnesium ion transmembrane transport;transmembrane transport
• Cellular component: mitochondrion;mitochondrial inner membrane;integral component of membrane
• Molecular function: magnesium ion transmembrane transporter activity