|Institutional Source||Beutler Lab|
|Gene Name||sestrin 2|
|Is this an essential gene?||Probably non essential (E-score: 0.231)|
|Stock #||R6224 (G1)|
|Chromosomal Location||132492032-132510501 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 132502570 bp|
|Amino Acid Change||Valine to Alanine at position 50 (V50A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030724 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030724]|
|Predicted Effect||probably benign
AA Change: V50A
PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
AA Change: V50A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0687|
|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 encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse lung fibroblasts homozgyous for a gene trap allele exhibit increased cellular sensitivity to hydrogen peroxide, decreased proliferation, and increased apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sesn2||
(F):5'- AAACAGCCCAGCTTCAAGAG -3'
(R):5'- TCCTCCATTCAGGCTGGTATTATAC -3'
(F):5'- GCCTGGTCTACAAAGTGAAGTCC -3'
(R):5'- CAGAAAGTCCTTCGTCCT -3'