|Institutional Source||Beutler Lab|
|Synonyms||cytovillin, Vil2, ezrin, p81|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4448 (G1)|
|Chromosomal Location||6738041-6782784 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 6753074 bp|
|Amino Acid Change||Isoleucine to Valine at position 203 (I203V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063734 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064234]|
|Predicted Effect||probably benign
AA Change: I203V
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: I203V
|Meta Mutation Damage Score||0.0691|
|Coding Region Coverage||
|Validation Efficiency||94% (49/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality with abnormal intestinal villi morphology. Mice homozygous for a knock-down allele exhibit growth retardation, partial postnatal lethality, achlorhydria, and abnormal gastric parietal cell morphology and response to histamine stimulation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ezr||
(F):5'- GCTAACTTCCAGGTCACCAC -3'
(R):5'- TACAGGGCTCAGGACAACAC -3'
(F):5'- CTTCCAGGTCACCACTTAAGATGATG -3'
(R):5'- CATCCCGTATGCCGTGC -3'