|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: 0.071)|
|Stock #||R1985 (G1)|
|Chromosomal Location||109847379-109849617 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 109848429 bp|
|Amino Acid Change||Asparagine to Serine at position 112 (N112S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107653 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112022]|
|Predicted Effect||probably benign
AA Change: N112S
PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
AA Change: N112S
|Meta Mutation Damage Score||0.0922|
|Coding Region Coverage||
|Validation Efficiency||94% (76/81)|
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'- TTAAGGGATGACAGAACCAGTC -3'
(R):5'- CCTGAGCAATGTGCCTTCAAG -3'
(F):5'- CCAGTCTTAAAGTTCAGGCTCAAGG -3'
(R):5'- TGCCTTCAAGGAACAGGGG -3'