|Institutional Source||Beutler Lab|
|Gene Name||anoctamin 5|
|Essential gene?||Probably non essential (E-score: 0.072)|
|Stock #||R8699 (G1)|
|Chromosomal Location||51511029-51598709 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 51593771 bp (GRCm38)|
|Amino Acid Change||Valine to Isoleucine at position 881 (V881I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]|
AA Change: V881I
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V881I
AA Change: V831I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ano5||
(F):5'- CCTAACAGTATATCTGACTGATCTTCC -3'
(R):5'- TTCTGATAGCACACTGCCAAC -3'
(F):5'- CTGACTGATCTTCCTTTATCTCTTTC -3'
(R):5'- CTGCCAACCTCTATTAAAGTGC -3'