|Institutional Source||Beutler Lab|
|Gene Name||spinster homolog 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6990 (G1)|
|Chromosomal Location||72451638-72489904 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 72489621 bp|
|Amino Acid Change||Threonine to Alanine at position 59 (T59A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044418 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045303]|
|Predicted Effect||probably benign
AA Change: T59A
PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: T59A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit symblepharon and impaired egress of T and B cells from the thymus and bone marrow, respectively. Mice homozygous for a different knock-out allele exhibit abnormal immune system, abnormal eye morphology and absent pinna reflex. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spns2||
(F):5'- TCTCCAGAGGGCTTGGATCTAG -3'
(R):5'- ATGATGTGCCTGGAATGCGC -3'
(F):5'- AAAAGCTCCCTAGGGCATCTGG -3'
(R):5'- CCTGGAATGCGCCTCGG -3'