|Institutional Source||Beutler Lab|
|Gene Name||protocadherin 8|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2920 (G1)|
|Chromosomal Location||79766775-79771312 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 79768714 bp (GRCm38)|
|Amino Acid Change||Proline to Glutamine at position 803 (P803Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045333 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039568] [ENSMUST00000195355]|
AA Change: P803Q
PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: P803Q
|Meta Mutation Damage Score||0.0608|
|Coding Region Coverage||
|Validation Efficiency||96% (48/50)|
FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a type I transmembrane protein composed of an extracellular domain including 6 cadherin ectodomains, a single-pass transmembrane domain and a cytoplasmic tail. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons with the first large exon encoding the extracellular and transmembrane region. Although this gene product is capable of homophilic interaction, it appears to affect cell-cell adhesion indirectly by initiating signaling events that regulate classical cadherin-mediated adhesion. Based on studies on this protein and its orthologs, this protocadherin mainly functions in developing embryos and the central nervous system, but can also function as a tumor suppressor. Alternative splicing yielding isoforms with unique cytoplasmic tails has been reported. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice are viable and fertile, and do not exhibit any gross skeletal defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcdh8||
(F):5'- ACAGGTTAAACATCTCCCTGTG -3'
(R):5'- CGCTGATCGTCATCATCGTG -3'
(F):5'- TCGAAGTGACAGGCGCTTTC -3'
(R):5'- GATCGTCATCATCGTGTTAGCCG -3'