Incidental Mutation 'IGL00927:Camp'
ID28166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camp
Ensembl Gene ENSMUSG00000038357
Gene Namecathelicidin antimicrobial peptide
SynonymsCnlp, MCLP, CAP18, FALL39, Cramp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL00927
Quality Score
Status
Chromosome9
Chromosomal Location109847379-109849617 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 109849268 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 56 (L56Q)
Ref Sequence ENSEMBL: ENSMUSP00000107653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112022]
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: 59,208,848 T92A probably damaging Het
Ankhd1 A G 18: 36,632,072 S1007G probably benign Het
Cabp4 A T 19: 4,139,407 S50R possibly damaging Het
Cblb A G 16: 52,166,098 N568S probably benign Het
Ccr6 C A 17: 8,255,993 T10K probably benign Het
Chit1 T C 1: 134,145,254 F106S probably damaging Het
Cyb561d1 A G 3: 108,199,627 L34P probably damaging Het
Dcun1d1 A T 3: 35,920,965 probably benign Het
Deup1 A G 9: 15,610,671 probably benign Het
Erich1 A G 8: 14,033,518 F184S probably damaging Het
Fmnl3 A G 15: 99,337,628 probably null Het
Grk2 T C 19: 4,287,954 N508S probably benign Het
Herc4 A G 10: 63,273,537 I184V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kif3b G A 2: 153,316,461 A61T possibly damaging Het
Kmt2d G A 15: 98,845,009 probably benign Het
Lrrc7 C A 3: 158,161,090 V1005L possibly damaging Het
Lrrtm1 A T 6: 77,244,063 M168L probably benign Het
Ndc1 C T 4: 107,384,780 probably benign Het
Nphs1 A G 7: 30,460,739 probably benign Het
Olfr692 A T 7: 105,369,247 Y298F probably damaging Het
Pbld2 T C 10: 63,071,955 V200A probably benign Het
Pcdhb21 A G 18: 37,514,553 Y245C probably damaging Het
Pcm1 A G 8: 41,287,881 T1055A probably damaging Het
Plcl2 C T 17: 50,606,920 S319L probably benign Het
Plekha8 C A 6: 54,629,837 Y372* probably null Het
Ralb T A 1: 119,471,776 N184I probably benign Het
Robo3 C T 9: 37,427,754 probably null Het
Slc41a1 T A 1: 131,839,176 L144H probably damaging Het
Smg1 C T 7: 118,140,632 G3364D probably damaging Het
Theg A G 10: 79,576,599 S329P probably damaging Het
Ttc26 T C 6: 38,382,220 probably benign Het
Vmn1r123 T A 7: 21,162,291 V36D possibly damaging Het
Zbtb7c T C 18: 76,145,850 S460P possibly damaging Het
Zscan30 T C 18: 23,971,777 noncoding transcript Het
Other mutations in Camp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0376:Camp UTSW 9 109848399 missense probably damaging 1.00
R0616:Camp UTSW 9 109848639 missense probably benign 0.05
R1985:Camp UTSW 9 109848429 missense probably benign 0.07
R4601:Camp UTSW 9 109848662 missense probably damaging 1.00
R4854:Camp UTSW 9 109847451 missense probably benign
R4911:Camp UTSW 9 109847583 critical splice acceptor site probably null
R6280:Camp UTSW 9 109847509 missense probably benign 0.24
R7638:Camp UTSW 9 109848393 missense
Posted On2013-04-17