|Institutional Source||Beutler Lab|
|Gene Name||CD14 antigen|
|Synonyms||monocyte differentiation antigen CD14; myeloid cell-specific leucine-rich glycoprotein|
|Is this an essential gene?||Probably non essential (E-score: 0.091)|
|Stock #||R6114 (G1)|
|Chromosomal Location||36725074-36726736 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 36725953 bp|
|Amino Acid Change||Tryptophan to Arginine at position 150 (W150R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056669 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061829]|
|PDB Structure||Crystal structure of CD14 [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: W150R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: W150R
|Meta Mutation Damage Score||0.8029|
|Coding Region Coverage||
|Validation Efficiency||94% (60/64)|
FUNCTION: This gene encodes a protein that plays an important role in the innate immune response and is expressed in monocyte/macrophage cells. This gene product acts as a co-receptor that binds several microbial and fungal molecules, including lipopolysaccharides (LPS). This proteins LPS-binding activity is enhanced by the LPS binding protein (LBP) to allow binding to the TLR4-MD-2 co-receptor complex. The product of this gene is found in two forms, either as a soluble protein or attached to the cell surface by a glycosylphosphatidylinositol anchor. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice exhibit macrophages with impaired responses to LPS or E.coli, resulting in a reduction or loss of cytokine production. Macrophages also cannot contain vesicular stomatitis virus infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd14||
(F):5'- TCGCCCAATTCAGGATTGTC -3'
(R):5'- TGTGGACACGGAAGCAGATC -3'
(F):5'- CCAATTCAGGATTGTCAGACAGGTC -3'
(R):5'- AAGTCTCTGTCCTTAAAGCGG -3'