|Institutional Source||Beutler Lab|
|Gene Name||anoctamin 3|
|Is this an essential gene?||Probably non essential (E-score: 0.068)|
|Stock #||IGL03147 (G1)|
|Chromosomal Location||110655201-110950923 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 110697418 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 552 (S552P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097219 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099623]|
AA Change: S552P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S552P
|Meta Mutation Damage Score||0.3199|
|Coding Region Coverage||
|Validation Efficiency||91% (39/43)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ano3||
(F):5'- CGAACACTGCTGTGATGACC -3'
(R):5'- TGTGCAAACAACACAACAGTGG -3'
(F):5'- GCAAACAGGCCTTTTGTGTTAC -3'
(R):5'- CAACACAACAGTGGGATGAAGTC -3'