|Institutional Source||Beutler Lab|
|Gene Name||neuronal calcium sensor 1|
|Synonyms||9430075O15Rik, Freq, NCS-1, A730032G13Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.165)|
|Stock #||R5474 (G1)|
|Chromosomal Location||31245823-31295989 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 31280784 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 70 (N70Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000199 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000199] [ENSMUST00000150670]|
|Predicted Effect||probably damaging
AA Change: N70Y
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N70Y
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ncs1||
(F):5'- ATGGCTTTCCTGGGTCTCAC -3'
(R):5'- TCAGTCATACAGATGAGCACATG -3'
(F):5'- TTCCTGGGTCTCACTGGCAG -3'
(R):5'- TGTGCCACACGTATGCAC -3'