|Institutional Source||Beutler Lab|
|Gene Name||laminin, alpha 5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4983 (G1)|
|Chromosomal Location||180176373-180225859 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 180193449 bp|
|Amino Acid Change||Serine to Proline at position 1317 (S1317P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015791 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015791]|
|AlphaFold||no structure available at present|
|PDB Structure||LAMININ ALPHA5 CHAIN N-TERMINAL FRAGMENT [X-RAY DIFFRACTION]|
|Predicted Effect||probably benign
AA Change: S1317P
PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: S1317P
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (103/106)|
|MGI Phenotype||Strain: 3624772; 1934917
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lama5||
(F):5'- TGTCTCACCACTCCTGACAG -3'
(R):5'- AATGCAGAACCCACCTTGCTG -3'
(F):5'- TCCTGACAGACGTGAAGAGCTC -3'
(R):5'- AAGCCTCTCCAGGGATGG -3'