Incidental Mutation 'IGL02021:Cd177'
ID 183982
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 # IGL02021
Quality Score
Status
Chromosome 7
Chromosomal Location 24443408-24459736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24444631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 650 (A650V)
Ref Sequence ENSEMBL: ENSMUSP00000064934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063956]
AlphaFold Q8R2S8
Predicted Effect probably benign
Transcript: ENSMUST00000063956
AA Change: A650V

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: A650V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206160
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,457,890 (GRCm39) probably benign Het
Adam10 C T 9: 70,651,191 (GRCm39) T72I possibly damaging Het
Adam26b T A 8: 43,972,909 (GRCm39) M698L probably benign Het
Ankrd27 A T 7: 35,313,881 (GRCm39) H404L probably damaging Het
Atp1a1 T C 3: 101,501,524 (GRCm39) S60G probably benign Het
Bcat1 T C 6: 144,993,015 (GRCm39) probably benign Het
Cmya5 T C 13: 93,231,057 (GRCm39) N1344D probably benign Het
Ctsd G T 7: 141,939,213 (GRCm39) L71I probably damaging Het
Dctn2 T C 10: 127,110,926 (GRCm39) probably null Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dennd2b T C 7: 109,156,579 (GRCm39) Y57C probably damaging Het
Duoxa1 A G 2: 122,135,127 (GRCm39) F251S probably benign Het
Fcho1 A C 8: 72,173,919 (GRCm39) S2A probably benign Het
Gm4861 T C 3: 137,257,871 (GRCm39) probably null Het
Gm4922 C A 10: 18,660,225 (GRCm39) G166W probably damaging Het
Hic2 A G 16: 17,076,617 (GRCm39) E482G probably benign Het
Hoxa5 C T 6: 52,179,637 (GRCm39) R246K probably damaging Het
Ipo11 A T 13: 106,993,745 (GRCm39) F721I probably damaging Het
Lama1 A T 17: 68,128,621 (GRCm39) S2993C probably damaging Het
Lonp2 T A 8: 87,435,599 (GRCm39) S612T probably benign Het
Lpar5 T G 6: 125,058,955 (GRCm39) Y225* probably null Het
Map4k3 A G 17: 80,917,255 (GRCm39) Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 (GRCm39) E296G probably damaging Het
Ncs1 A G 2: 31,174,177 (GRCm39) D109G probably damaging Het
Nnt T C 13: 119,472,783 (GRCm39) probably benign Het
Nr1h5 T C 3: 102,855,058 (GRCm39) probably benign Het
Or2ag20 A T 7: 106,464,696 (GRCm39) K170* probably null Het
Or4g7 A G 2: 111,309,825 (GRCm39) D232G probably benign Het
Plk4 A G 3: 40,765,143 (GRCm39) D595G probably damaging Het
Rbm17 C A 2: 11,600,249 (GRCm39) probably benign Het
Slc24a3 T A 2: 145,360,836 (GRCm39) I193N probably damaging Het
Stat5a G T 11: 100,774,715 (GRCm39) V759F probably damaging Het
Tgfbi T A 13: 56,779,166 (GRCm39) L463Q probably damaging Het
Tigar G T 6: 127,066,253 (GRCm39) A95E probably damaging Het
Tph1 A G 7: 46,306,421 (GRCm39) I180T possibly damaging Het
Usp22 T A 11: 61,045,325 (GRCm39) Y517F probably damaging Het
Vmn2r105 A C 17: 20,448,157 (GRCm39) I222M possibly damaging Het
Wapl A G 14: 34,444,293 (GRCm39) I582V probably benign Het
Zfp217 A G 2: 169,957,069 (GRCm39) V643A probably benign Het
Other mutations in Cd177
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Cd177 APN 7 24,459,176 (GRCm39) missense possibly damaging 0.59
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
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 2014-05-07