|Institutional Source||Beutler Lab|
|Gene Name||syntrophin, basic 2|
|Is this an essential gene?||Possibly essential (E-score: 0.708)|
|Stock #||R1942 (G1)|
|Chromosomal Location||106935750-107019714 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 107011352 bp|
|Amino Acid Change||Alanine to Threonine at position 511 (A511T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148684 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047425] [ENSMUST00000212524]|
|Predicted Effect||probably benign
AA Change: R449H
PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: R449H
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: A511T
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|Meta Mutation Damage Score||0.2222|
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have no overt phenotype. They are fertile and motile with no signs of muscular dystrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sntb2||
(F):5'- GTTCACCTAGGCTTTATGAGATTG -3'
(R):5'- TCAGGAAGGCACTGTGATGG -3'
(F):5'- AGGTTCAATTCCCAGCATGG -3'
(R):5'- GCACTGTGATGGAGGCAG -3'