|Institutional Source||Beutler Lab|
|Gene Name||sphingomyelin synthase 2|
|Is this an essential gene?||Probably non essential (E-score: 0.222)|
|Stock #||R4457 (G1)|
|Chromosomal Location||131318985-131491411 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 131325016 bp|
|Amino Acid Change||Tyrosine to Aspartic acid at position 273 (Y273D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087713 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090246]|
|Predicted Effect||probably damaging
AA Change: Y273D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y273D
|Meta Mutation Damage Score||0.596|
|Coding Region Coverage||
|Validation Efficiency||97% (62/64)|
FUNCTION: Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ceramide levels; decreased sphingomyelin, sphingomyelin-1-phosphate, and diacylglycerol levels; and resistance to lysenin-mediated cytolysis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sgms2||
(F):5'- GTCCATCCCATGAAGCGATC -3'
(R):5'- ATGCTGGAGTAGTCTTAACTGAGAC -3'
(F):5'- TCCCATGAAGCGATCTAACAC -3'
(R):5'- TAGCGTGCATAAGACCTTGGATTCC -3'