|Institutional Source||Beutler Lab|
|Gene Name||chaperonin containing Tcp1, subunit 2 (beta)|
|Is this an essential gene?||Probably essential (E-score: 0.965)|
|Stock #||R4364 (G1)|
|Chromosomal Location||117051001-117063814 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 117055151 bp|
|Amino Acid Change||Valine to Alanine at position 396 (V396A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036288 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047672]|
|Predicted Effect||probably damaging
AA Change: V396A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: V396A
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.4774|
|Coding Region Coverage||
|Validation Efficiency||93% (40/43)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cct2||
(F):5'- ATCAGCATCTCAGAGCAGCC -3'
(R):5'- TTTTGCAGAGAAGCATTGCTACC -3'
(F):5'- TCTCAGAGCAGCCTACAAATG -3'
(R):5'- CAAAGCCCAAGACTAGTCGAG -3'