|Institutional Source||Beutler Lab|
|Gene Name||alcohol dehydrogenase 4 (class II), pi polypeptide|
|Synonyms||Adh2, mouse class II type ADH|
|Is this an essential gene?||Probably non essential (E-score: 0.130)|
|Stock #||R0636 (G1)|
|Chromosomal Location||138415466-138430892 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 138428074 bp|
|Amino Acid Change||Arginine to Leucine at position 315 (R315L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000013458 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000013458] [ENSMUST00000161312]|
|Predicted Effect||probably damaging
AA Change: R315L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R315L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5697|
|Coding Region Coverage||
|Validation Efficiency||96% (74/77)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adh4||
(F):5'- AGGCAACATGGTTCAAACGGTCC -3'
(R):5'- AGGTAAGTGTGATTGTTGAAGAGGCG -3'
(F):5'- CATTGCAGAAAGCAGCTGTG -3'
(R):5'- gtctcaaacttatgatctatctgcc -3'