|Institutional Source||Beutler Lab|
|Gene Name||laminin, alpha 2|
|Is this an essential gene?||Probably non essential (E-score: 0.216)|
|Stock #||R3109 (G1)|
|Chromosomal Location||26980036-27619758 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 27001235 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 2652 (E2652K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090304 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092639]|
LAMININ ALPHA 2 CHAIN LG4-5 DOMAIN PAIR [X-RAY DIFFRACTION]
LAMININ ALPHA 2 CHAIN LG4-5 DOMAIN PAIR, CA1 SITE MUTANT [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE FIFTH LAMININ G-LIKE MODULE OF THE MOUSE LAMININ ALPHA2 CHAIN [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE LG1-3 REGION OF THE LAMININ ALPHA2 CHAIN [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: E2652K
PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: E2652K
AA Change: E660K
|Meta Mutation Damage Score||0.1319|
|Coding Region Coverage||
|Validation Efficiency||100% (33/33)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lama2||
(F):5'- CCTTGAAATGGCCAGGGTAG -3'
(R):5'- AGCTGAGAAATCATGAGTTCAAAGC -3'
(F):5'- CTTGAAATGGCCAGGGTAGAATTCC -3'
(R):5'- GTTATGTATCTAGACCTGTTCTCAAC -3'