Incidental Mutation 'R7088:Cd177'
ID 550004
Institutional Source Beutler Lab
Gene Symbol Cd177
Ensembl Gene ENSMUSG00000052212
Gene Name CD177 antigen
Synonyms 1190003K14Rik, Pdp3
MMRRC Submission 045182-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R7088 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 24443408-24459736 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 24444558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 674 (C674*)
Ref Sequence ENSEMBL: ENSMUSP00000064934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063956]
AlphaFold Q8R2S8
Predicted Effect probably null
Transcript: ENSMUST00000063956
AA Change: C674*
SMART Domains Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: C674*

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (77/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik G T 11: 83,331,232 (GRCm39) E48* probably null Het
Acaca T C 11: 84,169,783 (GRCm39) probably null Het
Albfm1 T A 5: 90,720,609 (GRCm39) L260* probably null Het
Alkbh3 A G 2: 93,835,097 (GRCm39) S83P possibly damaging Het
Ammecr1l T C 18: 31,904,872 (GRCm39) S38P probably benign Het
Armc10 T C 5: 21,858,390 (GRCm39) V145A probably damaging Het
BC048671 A G 6: 90,280,222 (GRCm39) K46R probably null Het
C2cd3 A G 7: 100,065,388 (GRCm39) T347A Het
C8b G T 4: 104,650,540 (GRCm39) E449D probably benign Het
Camk4 T C 18: 33,072,584 (GRCm39) S46P probably benign Het
Ccdc113 G A 8: 96,264,733 (GRCm39) R81H probably benign Het
Cdc6 T A 11: 98,810,065 (GRCm39) V458D probably damaging Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Ckap2 G T 8: 22,659,882 (GRCm39) P533Q possibly damaging Het
Cma1 T A 14: 56,181,273 (GRCm39) H44L probably damaging Het
Cmya5 A T 13: 93,228,372 (GRCm39) S2239T possibly damaging Het
Cntnap5b T A 1: 100,087,802 (GRCm39) I141N probably damaging Het
Col6a4 T A 9: 105,877,885 (GRCm39) T2031S possibly damaging Het
Cplane1 C T 15: 8,248,431 (GRCm39) T1660M probably benign Het
Cxcr5 T A 9: 44,424,683 (GRCm39) T325S possibly damaging Het
Dhx32 A T 7: 133,344,417 (GRCm39) L204Q probably damaging Het
Dse A G 10: 34,029,885 (GRCm39) Y402H probably damaging Het
Ecpas A T 4: 58,849,766 (GRCm39) L458I possibly damaging Het
Exoc6 G T 19: 37,565,458 (GRCm39) C178F probably damaging Het
Fam149a A G 8: 45,803,582 (GRCm39) V384A probably benign Het
Fcrl5 T C 3: 87,365,141 (GRCm39) *597Q probably null Het
Fer1l6 A G 15: 58,435,899 (GRCm39) K431E possibly damaging Het
Fmo3 T A 1: 162,796,434 (GRCm39) H46L probably benign Het
Gcm2 T C 13: 41,256,840 (GRCm39) D303G probably damaging Het
Gk2 T C 5: 97,603,534 (GRCm39) M435V probably damaging Het
Gli1 C A 10: 127,171,868 (GRCm39) M295I probably damaging Het
Gm11444 G T 11: 85,737,862 (GRCm39) H109Q Het
Gtpbp1 T A 15: 79,603,483 (GRCm39) D182E Het
Hnf4g A T 3: 3,713,185 (GRCm39) probably null Het
Hsf2 G A 10: 57,388,188 (GRCm39) R483H probably damaging Het
Kcnq4 C T 4: 120,561,596 (GRCm39) R491H probably damaging Het
Lama3 T C 18: 12,715,602 (GRCm39) V1686A possibly damaging Het
Larp6 A G 9: 60,631,638 (GRCm39) K137E probably damaging Het
Mboat1 T G 13: 30,379,772 (GRCm39) probably null Het
Mdh1 T C 11: 21,508,484 (GRCm39) Y286C probably damaging Het
Mga G T 2: 119,792,417 (GRCm39) K2607N probably damaging Het
Morf4l1 C A 9: 89,979,433 (GRCm39) V183F possibly damaging Het
Mroh4 G A 15: 74,497,993 (GRCm39) R196W probably benign Het
Muc16 C A 9: 18,503,976 (GRCm39) M6438I probably damaging Het
Myom3 A G 4: 135,530,589 (GRCm39) Y1167C probably damaging Het
Neurl3 T C 1: 36,308,302 (GRCm39) E170G possibly damaging Het
Nsd3 T C 8: 26,156,050 (GRCm39) I539T probably benign Het
Nup155 T C 15: 8,186,177 (GRCm39) F1313S probably benign Het
Nxn A T 11: 76,153,974 (GRCm39) V287E possibly damaging Het
Or4a80 G A 2: 89,582,443 (GRCm39) T243I probably benign Het
Or7a38 A C 10: 78,753,593 (GRCm39) L306F probably benign Het
Or8c13 C A 9: 38,091,748 (GRCm39) V124F probably damaging Het
Pax6 A G 2: 105,526,753 (GRCm39) N220D probably benign Het
Pcdha11 G A 18: 37,138,470 (GRCm39) R33H probably benign Het
Pdzd8 A G 19: 59,333,389 (GRCm39) F211L probably damaging Het
Pear1 C A 3: 87,661,945 (GRCm39) V477F possibly damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Pidd1 A T 7: 141,020,400 (GRCm39) V539E probably damaging Het
Ptprg A T 14: 12,207,365 (GRCm38) I878F probably damaging Het
Rabepk T C 2: 34,675,711 (GRCm39) T140A probably benign Het
Ranbp2 G T 10: 58,299,728 (GRCm39) R454L probably damaging Het
Rnf123 C T 9: 107,935,735 (GRCm39) R943Q probably null Het
Sash1 G A 10: 8,605,481 (GRCm39) R970* probably null Het
Serpinb2 C A 1: 107,452,422 (GRCm39) F333L probably damaging Het
Shank3 T A 15: 89,387,728 (GRCm39) probably null Het
Slc9a2 A C 1: 40,765,539 (GRCm39) I310L probably damaging Het
Strip2 T A 6: 29,920,532 (GRCm39) probably null Het
Thoc3 T C 13: 54,611,565 (GRCm39) T241A probably damaging Het
Tmem139 T A 6: 42,240,199 (GRCm39) V2E probably damaging Het
Usp24 G T 4: 106,244,743 (GRCm39) V1233F probably damaging Het
Vnn1 A G 10: 23,776,645 (GRCm39) Q332R probably benign Het
Wac T A 18: 7,921,455 (GRCm39) H530Q probably damaging Het
Wdr35 T A 12: 9,028,659 (GRCm39) N92K probably benign Het
Zbtb18 T G 1: 177,274,820 (GRCm39) L60R probably damaging Het
Zfp184 T A 13: 22,144,162 (GRCm39) C623S probably damaging Het
Zfp292 A G 4: 34,806,796 (GRCm39) Y2088H probably damaging Het
Zfp975 G T 7: 42,312,096 (GRCm39) S172R probably benign Het
Zswim2 G A 2: 83,746,071 (GRCm39) Q456* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTACACACATGGGGCACTG -3'
(R):5'- TAGTCTCCCTATGATTGGGAGG -3'

Sequencing Primer
(F):5'- ATGGGGCACTGCACATCTC -3'
(R):5'- ACAAGGCTCCCAGTCCTTGC -3'
Posted On 2019-05-15