Incidental Mutation 'IGL00927:Camp'
ID 28166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camp
Ensembl Gene ENSMUSG00000038357
Gene Name cathelicidin antimicrobial peptide
Synonyms MCLP, Cnlp, Cramp, CAP18, FALL39
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL00927
Quality Score
Status
Chromosome 9
Chromosomal Location 109676445-109678524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109678336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 56 (L56Q)
Ref Sequence ENSEMBL: ENSMUSP00000107653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112022]
AlphaFold P51437
Predicted Effect probably damaging
Transcript: ENSMUST00000112022
AA Change: L56Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107653
Gene: ENSMUSG00000038357
AA Change: L56Q

DomainStartEndE-ValueType
low complexity region 9 25 N/A INTRINSIC
Pfam:Cathelicidins 29 95 7.3e-39 PFAM
Pfam:CAP18_C 140 166 8.6e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Camp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0376:Camp UTSW 9 109,677,467 (GRCm39) missense probably damaging 1.00
R0616:Camp UTSW 9 109,677,707 (GRCm39) missense probably benign 0.05
R1985:Camp UTSW 9 109,677,497 (GRCm39) missense probably benign 0.07
R4601:Camp UTSW 9 109,677,730 (GRCm39) missense probably damaging 1.00
R4854:Camp UTSW 9 109,676,519 (GRCm39) missense probably benign
R4911:Camp UTSW 9 109,676,651 (GRCm39) critical splice acceptor site probably null
R6280:Camp UTSW 9 109,676,577 (GRCm39) missense probably benign 0.24
R7638:Camp UTSW 9 109,677,461 (GRCm39) missense
R9601:Camp UTSW 9 109,677,504 (GRCm39) missense
Posted On 2013-04-17