|Institutional Source||Beutler Lab|
|Gene Name||serine palmitoyltransferase, long chain base subunit 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6808 (G1)|
|Chromosomal Location||87305058-87388355 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 87350295 bp|
|Amino Acid Change||Threonine to Isoleucine at position 239 (T239I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021424 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021424]|
|Predicted Effect||possibly damaging
AA Change: T239I
PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: T239I
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
FUNCTION: This gene encodes a long chain base subunit of serine palmitoyltransferase. The enzyme, serine palmitoyltransferase, consists of two different subunits, and is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. A mutant allele of this gene in mice is used as a model for the human disease 'Susceptibilty to Psoriasis 1'. Mutations in the human gene are associated with hereditary sensory neuropathy type I. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit abnormal liver and circulating shingolipid levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sptlc2||
(F):5'- CTAGGAGGAAAGCTCCAACTG -3'
(R):5'- ACCATGCCTGGACTGAAAATG -3'
(F):5'- CTAGGAGGAAAGCTCCAACTGATATC -3'
(R):5'- TGTAGGTCAAAGGACAACTCTTAG -3'