|Institutional Source||Beutler Lab|
|Synonyms||NMF380, Agrin, nmf380|
|Is this an essential gene?||Possibly essential (E-score: 0.608)|
|Stock #||R7714 (G1)|
|Chromosomal Location||156165290-156197488 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 156195397 bp|
|Amino Acid Change||Aspartic acid to Tyrosine at position 106 (D106Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000137931 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085425] [ENSMUST00000180572]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: D106Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D106Y
|Meta Mutation Damage Score||0.6853|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Agrn||
(F):5'- TGGCCCTTAAAGGAACACTC -3'
(R):5'- GCACATTGGCTTGAGCTAGTG -3'
(F):5'- TTAAAGGAACACTCTCACCACG -3'
(R):5'- ACATTGGCTTGAGCTAGTGAGACC -3'