Incidental Mutation 'IGL02821:Cd177'
ID 361020
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 # IGL02821
Quality Score
Status
Chromosome 7
Chromosomal Location 24443408-24459736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24443818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 760 (L760Q)
Ref Sequence ENSEMBL: ENSMUSP00000064934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063956]
AlphaFold Q8R2S8
Predicted Effect probably damaging
Transcript: ENSMUST00000063956
AA Change: L760Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: L760Q

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik T C 14: 35,818,473 (GRCm39) L157S probably benign Het
Adam15 A G 3: 89,252,663 (GRCm39) S309P probably damaging Het
Agtpbp1 A T 13: 59,630,415 (GRCm39) M772K possibly damaging Het
Ankfn1 T C 11: 89,282,442 (GRCm39) M402V probably benign Het
Anln G A 9: 22,269,418 (GRCm39) T822I possibly damaging Het
Atp13a4 A G 16: 29,260,125 (GRCm39) V589A probably benign Het
Ccm2l C T 2: 152,909,779 (GRCm39) L44F probably damaging Het
Cfap69 T C 5: 5,714,017 (GRCm39) E5G probably benign Het
Col4a1 G A 8: 11,271,375 (GRCm39) T753I probably benign Het
Col6a3 T A 1: 90,731,600 (GRCm39) D1551V probably damaging Het
Ddx20 A G 3: 105,586,593 (GRCm39) V584A probably benign Het
Dop1a C A 9: 86,402,209 (GRCm39) H1136Q probably benign Het
Egf T C 3: 129,496,128 (GRCm39) E329G probably damaging Het
Eif3c A G 7: 126,157,831 (GRCm39) V337A probably benign Het
Eif3f G T 7: 108,533,881 (GRCm39) probably benign Het
Eif3f C T 7: 108,533,882 (GRCm39) probably benign Het
Evc T A 5: 37,483,740 (GRCm39) I187F probably benign Het
Fam117a T G 11: 95,254,815 (GRCm39) probably benign Het
H2-M10.4 A T 17: 36,771,323 (GRCm39) V285E probably damaging Het
Hps4 G T 5: 112,523,307 (GRCm39) M608I probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Itgam A T 7: 127,675,281 (GRCm39) M169L probably damaging Het
Kcnn3 G A 3: 89,570,029 (GRCm39) G614D possibly damaging Het
Kcnn3 A G 3: 89,428,281 (GRCm39) N169S possibly damaging Het
Mn1 A T 5: 111,569,717 (GRCm39) K1229M probably damaging Het
Ms4a19 A G 19: 11,118,897 (GRCm39) *71Q probably null Het
Nckap5 A G 1: 125,955,553 (GRCm39) M401T probably damaging Het
Or1af1 T C 2: 37,110,112 (GRCm39) S204P probably damaging Het
Or8c13 T C 9: 38,091,964 (GRCm39) N52D possibly damaging Het
Or8d4 T G 9: 40,038,561 (GRCm39) E232A probably benign Het
Pttg1ip2 G A 5: 5,502,039 (GRCm39) Q138* probably null Het
Sim2 G A 16: 93,898,047 (GRCm39) V94M probably damaging Het
Slc46a3 G A 5: 147,822,822 (GRCm39) T340M probably benign Het
Ssc4d A G 5: 135,994,923 (GRCm39) probably benign Het
Trav12-1 A G 14: 53,775,916 (GRCm39) D22G probably damaging Het
Trgv4 T A 13: 19,369,422 (GRCm39) D55E possibly damaging Het
Trps1 G A 15: 50,524,273 (GRCm39) T969M probably damaging Het
Ttn T A 2: 76,719,894 (GRCm39) probably benign Het
Ubqln4 A G 3: 88,470,458 (GRCm39) N310S probably benign Het
Vapa T C 17: 65,889,756 (GRCm39) probably benign Het
Vmn1r65 T C 7: 6,011,893 (GRCm39) T114A possibly damaging Het
Vps13d T C 4: 144,875,332 (GRCm39) E1725G probably damaging Het
Vps53 A G 11: 76,027,143 (GRCm39) probably benign Het
Xkr9 T C 1: 13,742,799 (GRCm39) L28P probably damaging 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
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
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 2015-12-18