|Institutional Source||Beutler Lab|
|Gene Name||nuclear factor, erythroid derived 2, like 2|
|Is this an essential gene?||Probably essential (E-score: 0.856)|
|Stock #||R6142 (G1)|
|Chromosomal Location||75675513-75704641 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 75679417 bp|
|Amino Acid Change||Isoleucine to Valine at position 20 (I20V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099733 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102672]|
|Predicted Effect||probably damaging
AA Change: I20V
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: I20V
|Meta Mutation Damage Score||0.304|
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
FUNCTION: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in a variety of organs and cells including brain, liver, erythrocytes, and spleen, abnormal tooth enamel, and abnormal response to various injuries, chemical treatments, and induced inflammatory diseases. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nfe2l2||
(F):5'- CCGGCTGAATTGGGAGGAATTC -3'
(R):5'- TCGAATGGGTAGCTAGATCTTG -3'
(F):5'- CCTGTTTCTTCATCCAGTTGAAAC -3'
(R):5'- AGCTAGATCTTGTTGCTTTTAGC -3'