|Institutional Source||Beutler Lab|
|Gene Name||N-acylsphingosine amidohydrolase 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.299)|
|Stock #||R8492 (G1)|
|Chromosomal Location||31984654-32061469 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 32006259 bp (GRCm38)|
|Amino Acid Change||Threonine to Methionine at position 595 (T595M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093830 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096119]|
AA Change: T595M
PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: T595M
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramidases (EC 220.127.116.11), 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'- TGGTCTACTCAACTCTCTAAATAGG -3'
(R):5'- TGGTCCAGACATCACTTTGG -3'
(F):5'- GGGATAGCATTTGCAATGTAAATG -3'
(R):5'- TGCTTTTACTGCAGGCTC -3'