Incidental Mutation 'IGL02821:Cd177'
ID361020
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 non essential (E-score: 0.420) question?
Stock #IGL02821
Quality Score
Status
Chromosome7
Chromosomal Location24743983-24760311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24744393 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 760 (L760Q)
Ref Sequence ENSEMBL: ENSMUSP00000064934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063956]
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
1700015F17Rik G A 5: 5,452,039 Q138* probably null Het
1700025F22Rik A G 19: 11,141,533 *71Q probably null Het
4930474N05Rik T C 14: 36,096,516 L157S probably benign Het
Adam15 A G 3: 89,345,356 S309P probably damaging Het
Agtpbp1 A T 13: 59,482,601 M772K possibly damaging Het
Ankfn1 T C 11: 89,391,616 M402V probably benign Het
Anln G A 9: 22,358,122 T822I possibly damaging Het
Atp13a4 A G 16: 29,441,307 V589A probably benign Het
Ccm2l C T 2: 153,067,859 L44F probably damaging Het
Cfap69 T C 5: 5,664,017 E5G probably benign Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Col6a3 T A 1: 90,803,878 D1551V probably damaging Het
Ddx20 A G 3: 105,679,277 V584A probably benign Het
Dopey1 C A 9: 86,520,156 H1136Q probably benign Het
Egf T C 3: 129,702,479 E329G probably damaging Het
Eif3c A G 7: 126,558,659 V337A probably benign Het
Eif3f G T 7: 108,934,674 probably benign Het
Eif3f C T 7: 108,934,675 probably benign Het
Evc T A 5: 37,326,396 I187F probably benign Het
Fam117a T G 11: 95,363,989 probably benign Het
H2-M10.4 A T 17: 36,460,431 V285E probably damaging Het
Hps4 G T 5: 112,375,441 M608I probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Itgam A T 7: 128,076,109 M169L probably damaging Het
Kcnn3 G A 3: 89,662,722 G614D possibly damaging Het
Kcnn3 A G 3: 89,520,974 N169S possibly damaging Het
Mn1 A T 5: 111,421,851 K1229M probably damaging Het
Nckap5 A G 1: 126,027,816 M401T probably damaging Het
Olfr366 T C 2: 37,220,100 S204P probably damaging Het
Olfr891 T C 9: 38,180,668 N52D possibly damaging Het
Olfr985 T G 9: 40,127,265 E232A probably benign Het
Sim2 G A 16: 94,097,188 V94M probably damaging Het
Slc46a3 G A 5: 147,886,012 T340M probably benign Het
Ssc4d A G 5: 135,966,069 probably benign Het
Tcrg-V4 T A 13: 19,185,252 D55E possibly damaging Het
Trav12-1 A G 14: 53,538,459 D22G probably damaging Het
Trps1 G A 15: 50,660,877 T969M probably damaging Het
Ttn T A 2: 76,889,550 probably benign Het
Ubqln4 A G 3: 88,563,151 N310S probably benign Het
Vapa T C 17: 65,582,761 probably benign Het
Vmn1r65 T C 7: 6,008,894 T114A possibly damaging Het
Vps13d T C 4: 145,148,762 E1725G probably damaging Het
Vps53 A G 11: 76,136,317 probably benign Het
Xkr9 T C 1: 13,672,575 L28P probably damaging Het
Other mutations in Cd177
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Cd177 APN 7 24759751 missense possibly damaging 0.59
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 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
Posted On2015-12-18