|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6060 (G1)|
|Chromosomal Location||12798606-12833807 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 12833125 bp|
|Amino Acid Change||Leucine to Proline at position 311 (L311P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025601 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025601]|
|Predicted Effect||probably damaging
AA Change: L311P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L311P
|Meta Mutation Damage Score||0.7158|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lpxn||
(F):5'- GTAGCACACAGAACCAATTGTG -3'
(R):5'- GCTCCTTGAAGATGCCTTTCGG -3'
(F):5'- CCAATTGTGGGCCTTTGCAG -3'
(R):5'- CCTTTCGGCAGCTGTGTCAG -3'