|Institutional Source||Beutler Lab|
|Gene Name||lipopolysaccharide binding protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4854 (G1)|
|Chromosomal Location||158306493-158332852 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 158327518 bp|
|Amino Acid Change||Valine to Alanine at position 421 (V421A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016168 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016168]|
|Predicted Effect||possibly damaging
AA Change: V421A
PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: V421A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0556|
|Coding Region Coverage||
|Validation Efficiency||98% (103/105)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lbp||
(F):5'- TCCTTAAGCTAGCTCTCATTAGATT -3'
(R):5'- GCTCACTCAGCTCTCAGGAG -3'
(F):5'- TTGTAGACCAGACTGGCCTTGAAC -3'
(R):5'- GAGACCCTGGTTTCCAACTCCAG -3'