|Institutional Source||Beutler Lab|
|Synonyms||cytovillin, Vil2, ezrin, p81|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4250 (G1)|
|Chromosomal Location||6738041-6782784 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 6754797 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 94 (I94N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063734 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064234]|
|Predicted Effect||probably damaging
AA Change: I94N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I94N
|Coding Region Coverage||
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'- TTGACAGAATCACCTGCTCCC -3'
(R):5'- GTGATAATGGGATGACAACTCTGAG -3'
(F):5'- AGACAGGGGCTTGTGCTC -3'
(R):5'- ACAACTCTGAGTCACTGGTG -3'