|Institutional Source||Beutler Lab|
|Gene Name||dynactin 2|
|Synonyms||RBP50, p50, DCTN-50, C130077D06Rik, 2310042E05Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8218 (G1)|
|Chromosomal Location||127266368-127281950 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 127276529 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 170 (D170G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026479 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026479]|
|Predicted Effect||probably damaging
AA Change: D170G
PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: D170G
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dctn2||
(F):5'- ATGGCTTTCTCCGAGGTTGC -3'
(R):5'- TAGTTGCTTCCAGCTGCAG -3'
(F):5'- CTCACTTCCATCCTGTCTTACGGAC -3'
(R):5'- TTCCAGCTGCAGCAGTAAG -3'