|Institutional Source||Beutler Lab|
|Synonyms||G-utrophin, DRP, Dmdl|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8331 (G1)|
|Chromosomal Location||12382188-12869365 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 12614619 bp (GRCm38)|
|Amino Acid Change||Threonine to Proline at position 6 (T6P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151592 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076817] [ENSMUST00000217994] [ENSMUST00000218635]|
|AlphaFold||no structure available at present|
AA Change: T6P
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Utrn||
(F):5'- TCAGTTGCCTGGAAAGGGAG -3'
(R):5'- TCAAGAAGTTGATGGACTCCC -3'
(F):5'- GTATTTCCTAGCCAGGCAACAGTG -3'
(R):5'- CCAGCCTCCTTTTCTCTAGAAC -3'