MTUS2

microtubule associated scaffold protein 2

Basic information

Region (hg38): 13:28820339-29505947

Previous symbols: [ "KIAA0774" ]

Links

ENSG00000132938 ∙ NCBI:23281 ∙ OMIM:619358 ∙ HGNC:20595 ∙ Uniprot:Q5JR59 ∙ 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 MTUS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTUS2 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					3	3
missense			27	1	1	29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1		2
Total	0	0	28	2	4

Variants in MTUS2

This is a list of pathogenic ClinVar variants found in the MTUS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-29025257-G-A		not specified	Uncertain significance (Aug 13, 2021)
13-29025630-A-T		not specified	Uncertain significance (Oct 06, 2021)
13-29025692-C-T			Benign (Dec 31, 2019)
13-29025870-C-T		not specified	Uncertain significance (Aug 02, 2021)
13-29025918-A-T			Benign (Dec 14, 2017)
13-29026135-C-G		not specified	Uncertain significance (Jul 09, 2021)
13-29026203-T-A		not specified	Uncertain significance (Aug 13, 2021)
13-29026460-C-T		not specified	Uncertain significance (Sep 16, 2021)
13-29026493-A-C		not specified	Uncertain significance (Aug 17, 2021)
13-29026518-A-G		not specified	Uncertain significance (Aug 30, 2021)
13-29026879-A-C		not specified	Uncertain significance (Oct 29, 2021)
13-29359288-G-C		not specified	Likely benign (Jul 28, 2021)
13-29359446-C-T			Benign (Apr 11, 2018)
13-29440023-A-G		not specified	Uncertain significance (Jun 10, 2024)
13-29440031-A-G		not specified	Uncertain significance (Apr 26, 2024)
13-29480170-G-A		not specified	Uncertain significance (Jul 05, 2023)
13-29480180-A-G		not specified	Uncertain significance (Jul 25, 2023)
13-29480207-G-T		not specified	Uncertain significance (Dec 05, 2022)
13-29480211-C-T			Likely benign (Feb 01, 2023)
13-29480218-G-A		not specified	Uncertain significance (Mar 31, 2024)
13-29480306-G-A		not specified	Uncertain significance (Nov 16, 2021)
13-29480345-G-A		not specified	Uncertain significance (Dec 13, 2022)
13-29487915-G-A		not specified	Uncertain significance (May 23, 2023)
13-29487974-C-G		not specified	Uncertain significance (Aug 28, 2023)
13-29487975-C-G		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTUS2	protein_coding	protein_coding	ENST00000431530	14	479145

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.795	0.205	125235	0	19	125254	0.0000758

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0835	766	773	0.992	0.0000440	8946
Missense in Polyphen		214	245.61	0.87131		3015
Synonymous	-0.240	320	315	1.02	0.0000191	2763
Loss of Function	5.18	10	49.3	0.203	0.00000233	647

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000117	0.000117
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000804	0.0000793
Middle Eastern	0.00	0.00
South Asian	0.000100	0.0000980
Other	0.000181	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip. {ECO:0000269|PubMed:19543227}.

Intolerance Scores

• loftool: 0.326
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.59

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.233
• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtus2

Gene ontology

• Cellular component: nucleus;cytoplasm;centrosome;cytoplasmic microtubule;microtubule cytoskeleton
• Molecular function: protein binding;microtubule binding;protein homodimerization activity