|Institutional Source||Beutler Lab|
|Gene Name||abhydrolase domain containing 2|
|Is this an essential gene?||Probably non essential (E-score: 0.094)|
|Stock #||R3108 (G1)|
|Chromosomal Location||79273199-79365508 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 79323585 bp|
|Amino Acid Change||Serine to Leucine at position 104 (S104L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038361 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037315]|
|Predicted Effect||probably benign
AA Change: S104L
PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: S104L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a gene trapped allele are overtly but exhibit enhanced migratory ability of cultured smooth muscle cells, and significant intimal hyperplasia after cuff placement. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abhd2||
(F):5'- AGGAACCCATTGTGTTTATGGTTAG -3'
(R):5'- CTGGCCTCTGAACACAATGG -3'
(F):5'- GTACCTTTGTTCAATAAATGTGGAGG -3'
(R):5'- GGCATTTCACACACTGCT -3'