|Institutional Source||Beutler Lab|
|Gene Name||programmed cell death 6|
|Synonyms||PS2, Alg2, alg-2, MA-3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0833 (G1)|
|Chromosomal Location||74303509-74317580 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 74316324 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000152458 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022060] [ENSMUST00000222759]|
|Coding Region Coverage||
|Validation Efficiency||100% (97/97)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any developmental defects or immune dysfunction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdcd6||
(F):5'- GCTCCCATTTCAGAGGCTCACATAC -3'
(R):5'- CCACTGACTCGTGCCAAAGAATGAC -3'
(F):5'- GAGGCTCACATACATTTGTTCTG -3'
(R):5'- GTGCCAAAGAATGACTTATTCGTCC -3'