|Institutional Source||Beutler Lab|
|Gene Name||laminin, alpha 3|
|Synonyms||[a]3B, nicein, 150kDa|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4223 (G1)|
|Chromosomal Location||12333819-12583013 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 12450403 bp|
|Amino Acid Change||Cysteine to Arginine at position 683 (C683R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089703 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092070]|
|Predicted Effect||probably damaging
AA Change: C683R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C683R
|Meta Mutation Damage Score||0.2759|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lama3||
(F):5'- TGACTAACACTGAGGCTTAGC -3'
(R):5'- TCCTTAGGATTGCTACAGATGGG -3'
(F):5'- TGCCTGATACAGGGTCT -3'
(R):5'- CTTAGGATTGCTACAGATGGGAAAGG -3'