|Institutional Source||Beutler Lab|
|Gene Name||N-acylsphingosine amidohydrolase 2|
|Is this an essential gene?||Probably non essential (E-score: 0.191)|
|Stock #||R5081 (G1)|
|Chromosomal Location||31984654-32061469 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32014308 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 451 (E451V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093830 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096119]|
|Predicted Effect||probably benign
AA Change: E451V
PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: E451V
|Meta Mutation Damage Score||0.1253|
|Coding Region Coverage||
|Validation Efficiency||93% (65/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramidases (EC 22.214.171.124), 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'- GATCTTCCGTGTCAGTGGAC -3'
(R):5'- TTTGGGAGTGTCAGACAAAATG -3'
(F):5'- CTGTGAAGCAGGATTGGT -3'
(R):5'- TTGGGAGTGTCAGACAAAATGTATTG -3'