|Institutional Source||Beutler Lab|
|Gene Name||parvin, beta|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2031 (G1)|
|Chromosomal Location||84232043-84315688 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 84282835 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 117 (Y117F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023072 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023072]|
|Predicted Effect||probably benign
AA Change: Y117F
PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: Y117F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1266|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Disruption of this marker has no apparent adverse consequences. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Parvb||
(F):5'- TTGTCTTCCGTGGTCACCAG -3'
(R):5'- GCATGAGCATCCGAGATGAC -3'
(F):5'- CAGGCAGGTGTCTGGTAGC -3'
(R):5'- AGCATCCGAGATGACCTGCTG -3'