|Institutional Source||Beutler Lab|
|Gene Name||protocadherin 12|
|Synonyms||VE-cadherin-2, vascular endothelial cadherin-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6012 (G1)|
|Chromosomal Location||38267092-38284402 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 38283752 bp|
|Amino Acid Change||Serine to Proline at position 107 (S107P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025311 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025311] [ENSMUST00000194012]|
|Predicted Effect||probably damaging
AA Change: S107P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S107P
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1497|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are viable, fertile and do not display any obvious histomorphological abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcdh12||
(F):5'- GGCAAAGTGTTCACTGGGAG -3'
(R):5'- AACTGTCCCAAGAACTAAGAGTGG -3'
(F):5'- GAATATAAGCTGTTAGGACCCGTGTC -3'
(R):5'- TCCCAAGAACTAAGAGTGGAGGAG -3'