|Institutional Source||Beutler Lab|
|Gene Name||protocadherin beta 1|
|Is this an essential gene?||Probably non essential (E-score: 0.139)|
|Stock #||R0242 (G1)|
|Chromosomal Location||37264938-37267525 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 37266735 bp (GRCm38)|
|Amino Acid Change||Serine to Threonine at position 580 (S580T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057519 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052366] [ENSMUST00000115661] [ENSMUST00000194544]|
AA Change: S580T
PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: S580T
|Meta Mutation Damage Score||0.2882|
|Coding Region Coverage||
|Validation Efficiency||97% (110/113)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcdhb1||
(F):5'- TATTGGCAAAGTCCACGCCGAG -3'
(R):5'- TGACCAGTTTCTGCATCATGGGG -3'
(F):5'- CCTCCAAAGAGTGGTGATCTGTC -3'
(R):5'- TAACCCAAGGTCTGTGGCTT -3'