|Institutional Source||Beutler Lab|
|Gene Name||fascin actin-bundling protein 2|
|Is this an essential gene?||Probably non essential (E-score: 0.160)|
|Stock #||R7171 (G1)|
|Chromosomal Location||120361534-120368168 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 120362509 bp|
|Amino Acid Change||Asparagine to Lysine at position 267 (N267K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026445 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026445]|
|Predicted Effect||probably damaging
AA Change: N267K
PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: N267K
|Coding Region Coverage||
|Validation Efficiency||100% (81/81)|
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'- TACACGCTGGAGTTCAAGGC -3'
(R):5'- AATCTTCGAGGCAGCTGCAG -3'
(F):5'- TTCAAGGCAGGCAAGCTG -3'
(R):5'- GTCTAGCAGGCACCACATTTG -3'