Pclo - SNV Details



 Gene Information 
Gene Name Pclo
Old Gene Names for Pclo Acz
Gene Description piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
cytoskeleton organization; metal ion binding; profilin binding; protein binding; synapse; cAMP-mediated signaling; insulin secretion; regulation of exocytosis
Homolog in other species PCLO
Omim http://omim.org/entry/604918
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN NS GROUP, NEURO2A, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN, SEPTUM.RESP.EPITH)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000061601
Chromosome 5
Coordinate 14,766,778     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 34
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02478
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved