|Institutional Source||Beutler Lab|
|Gene Name||spectrin beta, non-erythrocytic 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1678 (G1)|
|Chromosomal Location||4711208-4752353 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 4750497 bp|
|Amino Acid Change||Tyrosine to Histidine at position 2247 (Y2247H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000008991 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000008991] [ENSMUST00000178353]|
|Predicted Effect||probably damaging
AA Change: Y2247H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y2247H
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sptbn2||
(F):5'- GATGCTGTGCCGCAAACAAGAG -3'
(R):5'- TGTCTTCCACCTGCAAATACAGCC -3'
(F):5'- TTCCTGGAAACTTCCTAGACAGAG -3'
(R):5'- CATGGCAGCTATGTTCATGTGC -3'