|Institutional Source||Beutler Lab|
|Gene Name||cathelicidin antimicrobial peptide|
|Synonyms||Cnlp, MCLP, CAP18, FALL39, Cramp|
|Is this an essential gene?||Probably non essential (E-score: 0.063)|
|Stock #||R0376 (G1)|
|Chromosomal Location||109847379-109849617 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 109848399 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 122 (C122Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107653 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112022]|
|Predicted Effect||probably damaging
AA Change: C122Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C122Y
|Meta Mutation Damage Score||0.3356|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
FUNCTION: This gene encodes a member of the cathelicidin family of antimicrobial peptides that play an important role in the defense against microbial infection. The encoded preproprotein undergoes proteolytic processing to generate a mature polypeptide before secretion by host cells such as neutrophils, epithelial cells and macrophages. Mice lacking the encoded protein exhibit increased susceptibility to group A streptococcus and Escherichia coli infections. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are more susceptible to necrotic skin infection caused by Group A Streptococcus and urinary tract infection caused by uropathogenic E. coli and F. solani-induced keratitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Camp||
(F):5'- AGCGGAATTCGGAATATCCAGCAG -3'
(R):5'- TGGAACTAGTCAAGGAGTCCCCAG -3'
(F):5'- atcctcccacctctgcc -3'
(R):5'- CCAGGGACTTCCATCCAGTAG -3'