|Institutional Source||Beutler Lab|
|Gene Name||fascin actin-bundling protein 2|
|Is this an essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R2212 (G1)|
|Chromosomal Location||120361534-120368168 bp(+) (GRCm38)|
|Type of Mutation||start gained|
|DNA Base Change (assembly)||G to T at 120361591 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000026445 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026445]|
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display retinal generation with structural abnormalities of the outer segment and depressed rod and cone ERGs that worsen with age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fscn2||
(F):5'- TCCTGCTGGACATTGACTCTG -3'
(R):5'- CGTTAACAAGGCCAAACTGG -3'
(F):5'- GACTCTGGACTTGGTGCATCC -3'
(R):5'- AACTGGATCTTCAGCACCTGGTG -3'