Incidental Mutation 'IGL03343:Cfp'
ID 417328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfp
Ensembl Gene ENSMUSG00000001128
Gene Name complement factor properdin
Synonyms Pfc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL03343
Quality Score
Status
Chromosome X
Chromosomal Location 20791693-20797794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 20794248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 291 (F291C)
Ref Sequence ENSEMBL: ENSMUSP00000001156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001156]
AlphaFold P11680
Predicted Effect possibly damaging
Transcript: ENSMUST00000001156
AA Change: F291C

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001156
Gene: ENSMUSG00000001128
AA Change: F291C

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
TSP1 76 130 1.52e-9 SMART
TSP1 135 187 1.79e-15 SMART
TSP1 192 251 3.61e-11 SMART
TSP1 256 309 1.37e-11 SMART
TSP1 314 372 1.43e-1 SMART
TSP1 377 457 1.44e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122862
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for targeted null mutations have defects in the alternative complement pathway. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,725,064 (GRCm39) H795R probably damaging Het
Adgrl2 A T 3: 148,565,016 (GRCm39) I188K probably damaging Het
Adgrv1 A G 13: 81,431,507 (GRCm39) Y5974H probably damaging Het
Angpt4 A G 2: 151,778,623 (GRCm39) T336A probably damaging Het
Arhgap30 C A 1: 171,236,662 (GRCm39) T1012N probably damaging Het
Asl A T 5: 130,040,908 (GRCm39) Y178N probably damaging Het
Brd1 C A 15: 88,591,454 (GRCm39) L714F possibly damaging Het
Ccdc47 A G 11: 106,095,788 (GRCm39) S303P probably damaging Het
Cdcp3 T A 7: 130,848,420 (GRCm39) I858N probably damaging Het
Cdk16 A G X: 20,561,998 (GRCm39) K264E probably damaging Het
Cenpc1 A T 5: 86,164,181 (GRCm39) F813L probably damaging Het
Chordc1 T G 9: 18,223,762 (GRCm39) F276V probably damaging Het
Clic4 C T 4: 134,945,889 (GRCm39) R176H possibly damaging Het
Fcer1a T G 1: 173,053,040 (GRCm39) N52T possibly damaging Het
Fndc7 A T 3: 108,774,624 (GRCm39) C545S probably damaging Het
Frem2 T C 3: 53,559,674 (GRCm39) D1611G probably damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gga3 A T 11: 115,483,312 (GRCm39) N82K probably damaging Het
Gm43638 G A 5: 87,608,484 (GRCm39) P452S possibly damaging Het
Gpn1 T C 5: 31,662,309 (GRCm39) S244P probably damaging Het
Hspa12a T C 19: 58,787,828 (GRCm39) S665G probably benign Het
Htt A G 5: 34,983,385 (GRCm39) I995V probably benign Het
Iars1 A T 13: 49,878,223 (GRCm39) I916L probably benign Het
Ice1 C A 13: 70,751,048 (GRCm39) L1679F probably damaging Het
Inpp1 A T 1: 52,838,486 (GRCm39) D54E probably damaging Het
Irf2bpl T C 12: 86,929,713 (GRCm39) E320G possibly damaging Het
Itprid1 T G 6: 55,945,569 (GRCm39) D763E probably damaging Het
Kcnn2 T C 18: 45,810,026 (GRCm39) V421A probably damaging Het
Micu2 A G 14: 58,154,768 (GRCm39) V419A probably benign Het
Nek9 C T 12: 85,350,383 (GRCm39) C897Y probably damaging Het
Ofcc1 A C 13: 40,226,140 (GRCm39) H797Q probably benign Het
Or12d17 G A 17: 37,777,300 (GRCm39) D68N probably damaging Het
Or2y16 C A 11: 49,335,070 (GRCm39) H131N probably damaging Het
Or5m12 T C 2: 85,735,285 (GRCm39) T38A probably benign Het
Or6c69c T G 10: 129,911,125 (GRCm39) L282R probably damaging Het
Pakap C T 4: 57,688,502 (GRCm39) T115M probably damaging Het
Papss1 G A 3: 131,288,950 (GRCm39) G151S probably benign Het
Plxnb1 A G 9: 108,943,780 (GRCm39) T1956A probably damaging Het
Pomt1 A G 2: 32,143,724 (GRCm39) probably benign Het
Ppfibp2 T A 7: 107,337,126 (GRCm39) Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 (GRCm39) E493G probably damaging Het
Ptk2b A G 14: 66,406,870 (GRCm39) F621L probably benign Het
Ptpn13 G T 5: 103,702,816 (GRCm39) D1261Y possibly damaging Het
Ptprd C T 4: 75,977,966 (GRCm39) G181D probably damaging Het
Rabgap1l T C 1: 160,270,853 (GRCm39) T645A probably benign Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Smc3 A G 19: 53,602,273 (GRCm39) N40S probably damaging Het
Spata31 A T 13: 65,067,587 (GRCm39) D83V probably benign Het
Sptb C T 12: 76,630,330 (GRCm39) probably benign Het
Ssc4d A T 5: 135,990,028 (GRCm39) C493* probably null Het
Styxl2 T C 1: 165,927,017 (GRCm39) D865G probably benign Het
Ubr2 C A 17: 47,262,844 (GRCm39) V1256L probably benign Het
Ubr3 T C 2: 69,803,490 (GRCm39) probably benign Het
Vmn2r105 C T 17: 20,446,631 (GRCm39) W456* probably null Het
Vmn2r24 T A 6: 123,793,070 (GRCm39) I799N probably damaging Het
Vps13b G A 15: 35,917,316 (GRCm39) G3720D possibly damaging Het
Other mutations in Cfp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Cfp APN X 20,794,981 (GRCm39) missense probably damaging 1.00
IGL01410:Cfp APN X 20,795,963 (GRCm39) missense probably damaging 0.99
R1498:Cfp UTSW X 20,795,905 (GRCm39) frame shift probably null
Posted On 2016-08-02