Incidental Mutation 'IGL00425:Cd177'
ID5305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd177
Ensembl Gene ENSMUSG00000052212
Gene NameCD177 antigen
SynonymsPdp3, 1190003K14Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.543) question?
Stock #IGL00425
Quality Score
Status
Chromosome7
Chromosomal Location24743983-24760311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24759751 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 78 (T78S)
Ref Sequence ENSEMBL: ENSMUSP00000064934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063956]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063956
AA Change: T78S

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: T78S

DomainStartEndE-ValueType
Pfam:UPAR_LY6 134 214 3.7e-11 PFAM
Pfam:UPAR_LY6 226 300 1.2e-4 PFAM
low complexity region 301 317 N/A INTRINSIC
Pfam:UPAR_LY6 322 400 1.5e-9 PFAM
Pfam:UPAR_LY6 511 586 9.1e-12 PFAM
Pfam:UPAR_LY6 705 782 1.4e-11 PFAM
low complexity region 795 811 N/A INTRINSIC
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 glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils, increased neutrophil cell death and decreased neutrophils and monocytes early after S. aureus infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 C T 14: 66,074,049 probably null Het
Adgrb2 A T 4: 130,019,072 H1373L probably benign Het
Adgrf4 A G 17: 42,666,656 S599P probably damaging Het
Atp9b G A 18: 80,917,888 probably benign Het
Baiap2 A G 11: 119,982,010 T125A probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Cacna2d2 T C 9: 107,527,351 S1114P probably damaging Het
Ccdc159 T C 9: 21,929,469 S111P possibly damaging Het
Cdk5rap2 A G 4: 70,403,472 probably null Het
Cdkl3 C A 11: 52,029,856 T462K probably benign Het
Chid1 A C 7: 141,522,696 L208R probably damaging Het
Clca3b A G 3: 144,836,581 S487P probably benign Het
Col6a3 A T 1: 90,782,026 L1816Q unknown Het
Dido1 A G 2: 180,683,989 S469P probably benign Het
Dsg2 A G 18: 20,601,769 N935D probably benign Het
Fam126b A T 1: 58,540,253 probably benign Het
Fbxw2 A G 2: 34,812,949 I184T probably benign Het
Gbp9 T C 5: 105,105,754 I32V possibly damaging Het
Itgb8 G A 12: 119,189,826 T318I probably damaging Het
Kcnb2 A G 1: 15,711,012 S703G probably benign Het
Kif26b A T 1: 178,916,301 S1321C probably damaging Het
Klb A G 5: 65,372,374 N415S possibly damaging Het
Megf10 C A 18: 57,240,628 A166D probably damaging Het
Mrm3 T G 11: 76,244,493 S177A probably damaging Het
Nav3 A G 10: 109,703,507 F2011S probably benign Het
Nipal1 C T 5: 72,658,724 S30L probably benign Het
Ogdhl T C 14: 32,346,490 Y895H probably damaging Het
Pif1 A G 9: 65,593,277 N495D probably damaging Het
Prrc2c A T 1: 162,720,613 probably null Het
Pygl T C 12: 70,191,092 D724G probably damaging Het
Runx1t1 A G 4: 13,835,663 D40G probably benign Het
Serhl A T 15: 83,105,637 D192V possibly damaging Het
Slc12a5 C T 2: 164,983,281 A461V probably damaging Het
Tomm34 A T 2: 164,058,662 probably benign Het
Zfp54 A G 17: 21,430,297 N45D probably damaging Het
Other mutations in Cd177
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Cd177 APN 7 24758015 missense probably benign 0.05
IGL00673:Cd177 APN 7 24752017 missense possibly damaging 0.78
IGL00913:Cd177 APN 7 24756195 missense probably damaging 1.00
IGL01445:Cd177 APN 7 24752071 missense possibly damaging 0.95
IGL02021:Cd177 APN 7 24745206 missense probably benign 0.16
IGL02134:Cd177 APN 7 24752352 missense probably benign 0.01
IGL02532:Cd177 APN 7 24745249 missense probably benign 0.30
IGL02821:Cd177 APN 7 24744393 missense probably damaging 1.00
IGL02821:Cd177 APN 7 24744394 missense probably damaging 1.00
IGL02888:Cd177 APN 7 24758437 missense probably damaging 0.99
R0506:Cd177 UTSW 7 24758356 missense probably damaging 1.00
R0601:Cd177 UTSW 7 24752313 missense probably benign 0.00
R0631:Cd177 UTSW 7 24756686 missense probably benign 0.03
R0713:Cd177 UTSW 7 24744430 missense probably benign 0.25
R1595:Cd177 UTSW 7 24744964 missense probably benign
R1659:Cd177 UTSW 7 24746137 missense probably damaging 1.00
R2258:Cd177 UTSW 7 24756236 missense possibly damaging 0.73
R2260:Cd177 UTSW 7 24756236 missense possibly damaging 0.73
R2379:Cd177 UTSW 7 24758043 missense possibly damaging 0.80
R2763:Cd177 UTSW 7 24758037 missense probably benign 0.05
R2929:Cd177 UTSW 7 24754279 nonsense probably null
R3815:Cd177 UTSW 7 24754392 missense probably benign 0.00
R3818:Cd177 UTSW 7 24754392 missense probably benign 0.00
R3919:Cd177 UTSW 7 24744433 missense probably benign 0.15
R4300:Cd177 UTSW 7 24750420 missense possibly damaging 0.48
R4494:Cd177 UTSW 7 24752003 missense probably benign 0.06
R4781:Cd177 UTSW 7 24750626 missense probably damaging 1.00
R4819:Cd177 UTSW 7 24752271 missense probably damaging 1.00
R5062:Cd177 UTSW 7 24744316 missense probably benign 0.03
R5186:Cd177 UTSW 7 24744923 missense probably benign 0.31
R5285:Cd177 UTSW 7 24746249 missense probably benign 0.00
R5415:Cd177 UTSW 7 24752391 missense probably damaging 1.00
R5577:Cd177 UTSW 7 24745137 missense probably damaging 1.00
R5637:Cd177 UTSW 7 24756323 missense probably benign 0.01
R5673:Cd177 UTSW 7 24750362 missense probably damaging 1.00
R5731:Cd177 UTSW 7 24744421 missense probably damaging 1.00
R5775:Cd177 UTSW 7 24752268 missense probably damaging 1.00
R5840:Cd177 UTSW 7 24758070 missense probably damaging 0.99
R5870:Cd177 UTSW 7 24756332 missense probably benign 0.00
R5872:Cd177 UTSW 7 24752263 missense probably null 1.00
R6148:Cd177 UTSW 7 24744273 nonsense probably null
R6505:Cd177 UTSW 7 24744246 missense probably benign 0.00
R6897:Cd177 UTSW 7 24745074 missense probably benign 0.31
R7023:Cd177 UTSW 7 24759762 missense probably benign 0.44
R7088:Cd177 UTSW 7 24745133 nonsense probably null
R7188:Cd177 UTSW 7 24756647 missense probably damaging 1.00
R7366:Cd177 UTSW 7 24756722 missense probably damaging 1.00
R7744:Cd177 UTSW 7 24750375 missense probably damaging 1.00
R8008:Cd177 UTSW 7 24752349 missense not run
R8029:Cd177 UTSW 7 24756169 nonsense probably null
R8030:Cd177 UTSW 7 24756169 nonsense probably null
R8032:Cd177 UTSW 7 24756169 nonsense probably null
Z1176:Cd177 UTSW 7 24746171 missense probably benign 0.01
Z1177:Cd177 UTSW 7 24760256 missense probably damaging 1.00
Posted On2012-04-20