|Institutional Source||Beutler Lab|
|Gene Name||filamin, beta|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2363 (G1)|
|Chromosomal Location||7817957-7951588 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 7945950 bp|
|Amino Acid Change||Isoleucine to Valine at position 2452 (I2452V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052020 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052678]|
|Predicted Effect||possibly damaging
AA Change: I2452V
PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: I2452V
|Meta Mutation Damage Score||0.1940|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mutations in this gene cause skeletal defects including runting, premature mineralization, and bone fusion. Nullizygous mice show a delay and reduction in long bone growth. Truncation mutations cause early fusion of spinal vertebrae due to enhanced chondrocyte hypertrophy and early differentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Flnb||
(F):5'- TGGGCAAAAGTGTGTCTCAC -3'
(R):5'- GCCCACATGTAACCTCTTTATAGTC -3'
(F):5'- GCTGTGTCCCTCCCGAAAAC -3'
(R):5'- CAAGATTAGACTGTGGTTGCTAC -3'