|Institutional Source||Beutler Lab|
|Gene Name||protocadherin 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.343)|
|Stock #||R0542 (G1)|
|Chromosomal Location||38185914-38212053 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 38189922 bp|
|Amino Acid Change||Valine to Isoleucine at position 953 (V953I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000125576 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000160721] [ENSMUST00000161701]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: V953I
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: V953I
|Meta Mutation Damage Score||0.1472|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcdh1||
(F):5'- TCACAGGTAGATCTCACGCTTGGC -3'
(R):5'- TCCTAGAGGGCAGCAGAATAGTGAC -3'
(F):5'- CTACTGTGGGAGAAGGCACTG -3'
(R):5'- ATAGTGACAGCGGGCCAC -3'