Pcnt - SNV Details



 Human Rare Diseases 
Seckel syndrome
Microcephalic osteodysplastic primordial dwarfism type 2

 Gene Information 
Gene Name Pcnt
Old Gene Names for Pcnt Pcnt2 , Aw476095 , C86676
Gene Description pericentrin (kendrin) [Source:MGI Symbol;Acc:MGI:102722]
MGI phenotype Mice homozygous for ENU mutations exhibit perinatal lethality, polydactyly, and abnormal interneuron migration. Heterozygotes exhibit sporadic seizures.
Uniprot Name
CCDS Name
Gene GO
limb morphogenesis; intercellular bridge; neural precursor cell proliferation; apoptotic process; cytoplasm; brain morphogenesis; cilium assembly; centriole; spindle organization; protein binding; neuron migration; olfactory bulb development; in utero embryonic development; multicellular organism growth; microtubule organizing center; protein dimerization activity; microtubule cytoskeleton organization; centrosome; cerebellar cortex morphogenesis
Homolog in other species PCNT
Omim http://omim.org/entry/605925
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000001151
Chromosome 10
Coordinate 76,422,904     (Assembly: GRCm38)    
Ref Base G
Codon Change Caa/Taa
Var Base A
Zygosity Heterozygous
Read Depth 91
Allele Frequency
G:R0.57
A:V0.43
Amino Acid Position 576
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL01075
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 18 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved