Incidental Mutation 'IGL00425:Cd177'
ID 5305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd177
Ensembl Gene ENSMUSG00000052212
Gene Name CD177 antigen
Synonyms 1190003K14Rik, Pdp3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # IGL00425
Quality Score
Status
Chromosome 7
Chromosomal Location 24443408-24459736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24459176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 78 (T78S)
Ref Sequence ENSEMBL: ENSMUSP00000064934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063956]
AlphaFold Q8R2S8
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: 66,311,498 (GRCm39) probably null Het
Adgrb2 A T 4: 129,912,865 (GRCm39) H1373L probably benign Het
Adgrf4 A G 17: 42,977,547 (GRCm39) S599P probably damaging Het
Atp9b G A 18: 80,961,103 (GRCm39) probably benign Het
Baiap2 A G 11: 119,872,836 (GRCm39) T125A probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Cacna2d2 T C 9: 107,404,550 (GRCm39) S1114P probably damaging Het
Ccdc159 T C 9: 21,840,765 (GRCm39) S111P possibly damaging Het
Cdk5rap2 A G 4: 70,321,709 (GRCm39) probably null Het
Cdkl3 C A 11: 51,920,683 (GRCm39) T462K probably benign Het
Chid1 A C 7: 141,102,609 (GRCm39) L208R probably damaging Het
Clca3b A G 3: 144,542,342 (GRCm39) S487P probably benign Het
Col6a3 A T 1: 90,709,748 (GRCm39) L1816Q unknown Het
Dido1 A G 2: 180,325,782 (GRCm39) S469P probably benign Het
Dsg2 A G 18: 20,734,826 (GRCm39) N935D probably benign Het
Fbxw2 A G 2: 34,702,961 (GRCm39) I184T probably benign Het
Gbp9 T C 5: 105,253,620 (GRCm39) I32V possibly damaging Het
Hycc2 A T 1: 58,579,412 (GRCm39) probably benign Het
Itgb8 G A 12: 119,153,561 (GRCm39) T318I probably damaging Het
Kcnb2 A G 1: 15,781,236 (GRCm39) S703G probably benign Het
Kif26b A T 1: 178,743,866 (GRCm39) S1321C probably damaging Het
Klb A G 5: 65,529,717 (GRCm39) N415S possibly damaging Het
Megf10 C A 18: 57,373,700 (GRCm39) A166D probably damaging Het
Mrm3 T G 11: 76,135,319 (GRCm39) S177A probably damaging Het
Nav3 A G 10: 109,539,368 (GRCm39) F2011S probably benign Het
Nipal1 C T 5: 72,816,067 (GRCm39) S30L probably benign Het
Ogdhl T C 14: 32,068,447 (GRCm39) Y895H probably damaging Het
Pif1 A G 9: 65,500,559 (GRCm39) N495D probably damaging Het
Prrc2c A T 1: 162,548,182 (GRCm39) probably null Het
Pygl T C 12: 70,237,866 (GRCm39) D724G probably damaging Het
Runx1t1 A G 4: 13,835,663 (GRCm39) D40G probably benign Het
Serhl A T 15: 82,989,838 (GRCm39) D192V possibly damaging Het
Slc12a5 C T 2: 164,825,201 (GRCm39) A461V probably damaging Het
Tomm34 A T 2: 163,900,582 (GRCm39) probably benign Het
Zfp54 A G 17: 21,650,559 (GRCm39) N45D probably damaging Het
Other mutations in Cd177
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Cd177 APN 7 24,457,440 (GRCm39) missense probably benign 0.05
IGL00673:Cd177 APN 7 24,451,442 (GRCm39) missense possibly damaging 0.78
IGL00913:Cd177 APN 7 24,455,620 (GRCm39) missense probably damaging 1.00
IGL01445:Cd177 APN 7 24,451,496 (GRCm39) missense possibly damaging 0.95
IGL02021:Cd177 APN 7 24,444,631 (GRCm39) missense probably benign 0.16
IGL02134:Cd177 APN 7 24,451,777 (GRCm39) missense probably benign 0.01
IGL02532:Cd177 APN 7 24,444,674 (GRCm39) missense probably benign 0.30
IGL02821:Cd177 APN 7 24,443,819 (GRCm39) missense probably damaging 1.00
IGL02821:Cd177 APN 7 24,443,818 (GRCm39) missense probably damaging 1.00
IGL02888:Cd177 APN 7 24,457,862 (GRCm39) missense probably damaging 0.99
R0506:Cd177 UTSW 7 24,457,781 (GRCm39) missense probably damaging 1.00
R0601:Cd177 UTSW 7 24,451,738 (GRCm39) missense probably benign 0.00
R0631:Cd177 UTSW 7 24,456,111 (GRCm39) missense probably benign 0.03
R0713:Cd177 UTSW 7 24,443,855 (GRCm39) missense probably benign 0.25
R1595:Cd177 UTSW 7 24,444,389 (GRCm39) missense probably benign
R1659:Cd177 UTSW 7 24,445,562 (GRCm39) missense probably damaging 1.00
R2258:Cd177 UTSW 7 24,455,661 (GRCm39) missense possibly damaging 0.73
R2260:Cd177 UTSW 7 24,455,661 (GRCm39) missense possibly damaging 0.73
R2379:Cd177 UTSW 7 24,457,468 (GRCm39) missense possibly damaging 0.80
R2763:Cd177 UTSW 7 24,457,462 (GRCm39) missense probably benign 0.05
R2929:Cd177 UTSW 7 24,453,704 (GRCm39) nonsense probably null
R3815:Cd177 UTSW 7 24,453,817 (GRCm39) missense probably benign 0.00
R3818:Cd177 UTSW 7 24,453,817 (GRCm39) missense probably benign 0.00
R3919:Cd177 UTSW 7 24,443,858 (GRCm39) missense probably benign 0.15
R4300:Cd177 UTSW 7 24,449,845 (GRCm39) missense possibly damaging 0.48
R4494:Cd177 UTSW 7 24,451,428 (GRCm39) missense probably benign 0.06
R4781:Cd177 UTSW 7 24,450,051 (GRCm39) missense probably damaging 1.00
R4819:Cd177 UTSW 7 24,451,696 (GRCm39) missense probably damaging 1.00
R5062:Cd177 UTSW 7 24,443,741 (GRCm39) missense probably benign 0.03
R5186:Cd177 UTSW 7 24,444,348 (GRCm39) missense probably benign 0.31
R5285:Cd177 UTSW 7 24,445,674 (GRCm39) missense probably benign 0.00
R5415:Cd177 UTSW 7 24,451,816 (GRCm39) missense probably damaging 1.00
R5577:Cd177 UTSW 7 24,444,562 (GRCm39) missense probably damaging 1.00
R5637:Cd177 UTSW 7 24,455,748 (GRCm39) missense probably benign 0.01
R5673:Cd177 UTSW 7 24,449,787 (GRCm39) missense probably damaging 1.00
R5731:Cd177 UTSW 7 24,443,846 (GRCm39) missense probably damaging 1.00
R5775:Cd177 UTSW 7 24,451,693 (GRCm39) missense probably damaging 1.00
R5840:Cd177 UTSW 7 24,457,495 (GRCm39) missense probably damaging 0.99
R5870:Cd177 UTSW 7 24,455,757 (GRCm39) missense probably benign 0.00
R5872:Cd177 UTSW 7 24,451,688 (GRCm39) missense probably null 1.00
R6148:Cd177 UTSW 7 24,443,698 (GRCm39) nonsense probably null
R6505:Cd177 UTSW 7 24,443,671 (GRCm39) missense probably benign 0.00
R6897:Cd177 UTSW 7 24,444,499 (GRCm39) missense probably benign 0.31
R7023:Cd177 UTSW 7 24,459,187 (GRCm39) missense probably benign 0.44
R7088:Cd177 UTSW 7 24,444,558 (GRCm39) nonsense probably null
R7188:Cd177 UTSW 7 24,456,072 (GRCm39) missense probably damaging 1.00
R7366:Cd177 UTSW 7 24,456,147 (GRCm39) missense probably damaging 1.00
R7744:Cd177 UTSW 7 24,449,800 (GRCm39) missense probably damaging 1.00
R8008:Cd177 UTSW 7 24,451,774 (GRCm39) missense not run
R8029:Cd177 UTSW 7 24,455,594 (GRCm39) nonsense probably null
R8030:Cd177 UTSW 7 24,455,594 (GRCm39) nonsense probably null
R8032:Cd177 UTSW 7 24,455,594 (GRCm39) nonsense probably null
R8094:Cd177 UTSW 7 24,443,842 (GRCm39) missense probably damaging 0.99
R8121:Cd177 UTSW 7 24,459,067 (GRCm39) missense probably benign
R8192:Cd177 UTSW 7 24,453,727 (GRCm39) missense probably benign 0.00
R8314:Cd177 UTSW 7 24,450,013 (GRCm39) missense probably benign 0.15
R8682:Cd177 UTSW 7 24,459,438 (GRCm39) missense possibly damaging 0.92
R8730:Cd177 UTSW 7 24,457,501 (GRCm39) missense possibly damaging 0.89
R9185:Cd177 UTSW 7 24,443,668 (GRCm39) missense probably benign 0.00
R9217:Cd177 UTSW 7 24,445,550 (GRCm39) missense possibly damaging 0.93
R9335:Cd177 UTSW 7 24,443,711 (GRCm39) missense probably benign 0.04
R9595:Cd177 UTSW 7 24,451,762 (GRCm39) missense probably damaging 1.00
R9796:Cd177 UTSW 7 24,459,169 (GRCm39) missense probably benign
Z1176:Cd177 UTSW 7 24,445,596 (GRCm39) missense probably benign 0.01
Z1177:Cd177 UTSW 7 24,459,681 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20