|Institutional Source||Beutler Lab|
|Gene Name||N-acylsphingosine amidohydrolase 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.347)|
|Stock #||R6187 (G1)|
|Chromosomal Location||31984654-32061469 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 32024867 bp|
|Amino Acid Change||Serine to Arginine at position 292 (S292R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093830 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096119]|
|Predicted Effect||probably damaging
AA Change: S292R
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: S292R
|Meta Mutation Damage Score||0.236|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramidases (EC 188.8.131.52), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are defective in the intestinal digestion of dietary ceramide but exhibit a normal life span with no obvious abnormalities or significant alterations in total ceramide levels in major organ tissues. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Asah2||
(F):5'- ACCAGTGAATTCTCTCCATGC -3'
(R):5'- TTATGTGCCTCATTAGTGCAGTAGG -3'
(F):5'- GTGAATTCTCTCCATGCAAGCACAG -3'
(R):5'- CAGTAGGTAATGGATCAGCCTCAC -3'