Incidental Mutation 'R6280:Camp'
Institutional Source Beutler Lab
Gene Symbol Camp
Ensembl Gene ENSMUSG00000038357
Gene Namecathelicidin antimicrobial peptide
SynonymsCnlp, MCLP, CAP18, FALL39, Cramp
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R6280 (G1)
Quality Score225.009
Status Validated
Chromosomal Location109847379-109849617 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 109847509 bp
Amino Acid Change Isoleucine to Leucine at position 149 (I149L)
Ref Sequence ENSEMBL: ENSMUSP00000107653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035053] [ENSMUST00000112022] [ENSMUST00000197627] [ENSMUST00000199758] [ENSMUST00000200005] [ENSMUST00000200468]
Predicted Effect probably benign
Transcript: ENSMUST00000035053
SMART Domains Protein: ENSMUSP00000035053
Gene: ENSMUSG00000032478

NDK 11 152 5.9e-66 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112022
AA Change: I149L

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107653
Gene: ENSMUSG00000038357
AA Change: I149L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196797
Predicted Effect probably benign
Transcript: ENSMUST00000197627
SMART Domains Protein: ENSMUSP00000142778
Gene: ENSMUSG00000032478

Pfam:NDK 12 91 2.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198201
Predicted Effect probably benign
Transcript: ENSMUST00000199758
SMART Domains Protein: ENSMUSP00000143591
Gene: ENSMUSG00000032478

NDK 11 79 2.9e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200005
SMART Domains Protein: ENSMUSP00000142609
Gene: ENSMUSG00000032478

NDK 11 152 5.9e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200091
Predicted Effect probably benign
Transcript: ENSMUST00000200468
SMART Domains Protein: ENSMUSP00000143021
Gene: ENSMUSG00000032478

NDK 11 152 5.9e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200660
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,327,057 S534P probably damaging Het
4930452B06Rik T G 14: 8,473,414 probably null Het
Abca12 C T 1: 71,272,460 D1930N probably benign Het
Adam8 A G 7: 139,984,807 L667S probably damaging Het
Adcy4 A T 14: 55,779,043 I317N probably damaging Het
Agpat3 A G 10: 78,285,038 F102S probably damaging Het
Apbb2 A T 5: 66,364,982 W443R probably damaging Het
BC049715 T A 6: 136,840,231 Y156* probably null Het
Bpifc C T 10: 85,977,712 V323I probably benign Het
Cnih1 A G 14: 46,788,177 probably null Het
Col18a1 A T 10: 77,112,489 probably benign Het
Dsg4 A T 18: 20,466,667 D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 V442I probably benign Het
Fam83g G T 11: 61,703,182 S514I probably benign Het
Fam92b A G 8: 120,172,119 I94T possibly damaging Het
Fbxo7 A G 10: 86,029,105 N93D probably benign Het
Fgf20 G T 8: 40,281,112 S76* probably null Het
Foxi1 A G 11: 34,207,972 F18L probably damaging Het
Fxr1 G A 3: 34,046,252 probably benign Het
Gon4l T A 3: 88,890,888 L800H probably damaging Het
Gpn3 T A 5: 122,373,959 S33T probably benign Het
Gria4 T C 9: 4,456,072 M743V probably damaging Het
Hira A G 16: 18,910,707 N109D probably damaging Het
Hsd3b3 A G 3: 98,753,305 probably null Het
Hsf2 T G 10: 57,511,495 S370A probably benign Het
Htt T A 5: 34,870,759 D1786E probably benign Het
Ifit1bl2 T A 19: 34,620,134 R27S possibly damaging Het
Il17rb G A 14: 30,002,971 A186V probably benign Het
Irak4 G T 15: 94,551,810 E57* probably null Het
Kcnh2 T A 5: 24,331,923 H221L probably benign Het
Kdm2b T C 5: 122,878,624 N1149D probably damaging Het
Kif26a A G 12: 112,174,869 H702R probably damaging Het
Kmt2e T C 5: 23,499,516 S1236P possibly damaging Het
Krt77 T A 15: 101,865,475 D248V probably damaging Het
Lgals3bp T C 11: 118,393,280 N52S possibly damaging Het
Lhfp T C 3: 53,260,514 Y170H probably damaging Het
Lpin2 A G 17: 71,232,248 probably benign Het
Lrig3 T C 10: 126,010,979 I872T probably benign Het
Lrit3 T C 3: 129,788,763 E525G probably damaging Het
Lrp1 T C 10: 127,589,584 T726A probably benign Het
Mep1a A T 17: 43,502,392 N46K probably damaging Het
Muc16 C A 9: 18,579,317 probably null Het
N4bp1 A C 8: 86,853,166 N669K possibly damaging Het
Nelfcd A G 2: 174,415,946 D26G probably benign Het
Neu4 G A 1: 94,025,151 S414N probably damaging Het
Nudt9 A G 5: 104,065,069 D336G probably benign Het
Obscn C A 11: 59,063,683 G3691V possibly damaging Het
Olfr1102 A G 2: 87,002,020 N17S probably damaging Het
Olfr1263 A C 2: 90,015,049 I40L possibly damaging Het
Pdgfd T A 9: 6,288,627 S94T probably benign Het
Picalm A G 7: 90,177,562 H290R probably benign Het
Pou2f3 A T 9: 43,139,339 L242Q probably damaging Het
Pou2f3 G T 9: 43,139,340 L242M probably damaging Het
Prkd3 C T 17: 78,981,931 G187D probably damaging Het
Pwp1 A G 10: 85,874,462 S49G probably damaging Het
Ralgapa2 A G 2: 146,342,209 L1626P probably damaging Het
Rin2 A G 2: 145,861,019 Y545C probably damaging Het
Rwdd4a A G 8: 47,542,797 T71A probably benign Het
Senp7 T C 16: 56,162,375 F504L possibly damaging Het
Slc12a6 A G 2: 112,337,358 T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 probably benign Het
Slc17a2 A G 13: 23,822,394 S468G probably benign Het
Slc4a10 A G 2: 62,281,966 N697S probably benign Het
Spint1 T A 2: 119,245,278 V194E possibly damaging Het
Sptlc2 A T 12: 87,388,131 M14K probably benign Het
Stard9 A G 2: 120,701,127 K2622E probably benign Het
Tbc1d5 T C 17: 50,782,310 N614S probably benign Het
Tdpoz2 A T 3: 93,651,883 C261S probably benign Het
Tmem150b A T 7: 4,724,374 I44N probably benign Het
Ttn A G 2: 76,778,158 L17807P probably damaging Het
Vcan G A 13: 89,725,373 R121W probably damaging Het
Vmn2r15 T A 5: 109,293,425 H189L possibly damaging Het
Vmn2r19 A G 6: 123,336,253 S761G probably benign Het
Wdr11 A T 7: 129,599,106 K34* probably null Het
Zfp120 A T 2: 150,118,044 S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 P740A probably benign Het
Other mutations in Camp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Camp APN 9 109849268 missense probably damaging 1.00
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
R7638:Camp UTSW 9 109848393 missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-03-15