|Institutional Source||Beutler Lab|
|Gene Name||piccolo (presynaptic cytomatrix protein)|
Ncbi RefSeq: NM_011995.4; NM_001110796.1; MGI:1349390
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8182 (G1)|
|Chromosomal Location||14514918-14863459 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 14855620 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Lysine at position 4955 (E4955K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030691 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030691]|
|AlphaFold||no structure available at present|
AA Change: E4955K
AA Change: E4955K
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
Strain: 3699630; 4442915; 4442914
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pclo||
(F):5'- TCCTTAAGGGTTTGAACTGTGC -3'
(R):5'- TCTAATGTTTTCCATGCACAGGTG -3'
(F):5'- AGGGTTTGAACTGTGCATTATATCC -3'
(R):5'- TCCATGCACAGGTGAAAGTTTACC -3'