MCRIP2

MAPK regulated corepressor interacting protein 2

Basic information

Region (hg38): 16:636817-648474

Previous symbols: [ "C16orf14", "FAM195A" ]

Links

ENSG00000172366 ∙ NCBI:84331 ∙ ∙ HGNC:14142 ∙ Uniprot:Q9BUT9 ∙ 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 MCRIP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCRIP2 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in MCRIP2

This is a list of pathogenic ClinVar variants found in the MCRIP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-647536-T-A		not specified	Uncertain significance (Oct 05, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MCRIP2	protein_coding	protein_coding	ENST00000307650	5	6662

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.372	0.585	121346	0	1	121347	0.00000412

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.620	50	64.0	0.782	0.00000415	981
Missense in Polyphen		14	18.125	0.77239		282
Synonymous	0.160	27	28.1	0.962	0.00000195	329
Loss of Function	1.59	1	4.75	0.211	2.04e-7	88

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	0.0000343	0.0000343
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.124
• hipred: N
• hipred_score: 0.181
• ghis: 0.551

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mcrip2

Gene ontology

• Cellular component: nucleus;cytoplasm;cytoplasmic stress granule
• Molecular function: protein binding