|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 5 (fibronectin receptor alpha)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4676 (G1)|
|Chromosomal Location||103344286-103366763 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 103357210 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 192 (Y192N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023128 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023128] [ENSMUST00000215331]|
|Predicted Effect||probably damaging
AA Change: Y192N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y192N
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.206|
|Coding Region Coverage||
|Validation Efficiency||98% (93/95)|
FUNCTION: The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain, which is proteolytically processed to generate light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signaling. Integrin alpha 5 and integrin alpha V chains are produced by distinct genes. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in posterior trunk and yolk sac mesodermal structures, lack of epithelialization of somites, reduced numbers of Schwann cells, and lethality around embryonic day 10-11. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga5||
(F):5'- TGAGCTAGCTGCACACTGATG -3'
(R):5'- AGCTAAGGGTTAAGCTGTGG -3'
(F):5'- CACACTGATGGGCTGACAG -3'
(R):5'- CTAAGGGTTAAGCTGTGGTGGAGAG -3'