Incidental Mutation 'R5415:Cd177'
ID 427685
Institutional Source Beutler Lab
Gene Symbol Cd177
Ensembl Gene ENSMUSG00000052212
Gene Name CD177 antigen
Synonyms 1190003K14Rik, Pdp3
MMRRC Submission 042984-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R5415 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 24443408-24459736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24451816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 400 (L400Q)
Ref Sequence ENSEMBL: ENSMUSP00000064934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063956]
AlphaFold Q8R2S8
Predicted Effect probably damaging
Transcript: ENSMUST00000063956
AA Change: L400Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: L400Q

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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
Arhgef18 G A 8: 3,438,075 (GRCm39) R303H probably damaging Het
Ark2c C A 18: 77,554,435 (GRCm39) V60L probably damaging Het
Asb15 A T 6: 24,570,690 (GRCm39) Q556L probably benign Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cfap298 G T 16: 90,722,953 (GRCm39) D260E probably benign Het
Cideb T C 14: 55,995,312 (GRCm39) E58G probably damaging Het
Drd2 A G 9: 49,313,553 (GRCm39) K241E possibly damaging Het
Ect2 C T 3: 27,201,002 (GRCm39) C126Y probably damaging Het
Eef1d T C 15: 75,775,030 (GRCm39) T210A probably benign Het
Enpp2 G A 15: 54,745,552 (GRCm39) H315Y probably damaging Het
Ero1b A T 13: 12,616,656 (GRCm39) M362L probably benign Het
Exosc2 A G 2: 31,562,578 (GRCm39) K73E possibly damaging Het
Gm9637 T A 14: 19,402,143 (GRCm38) noncoding transcript Het
Gstm5 A G 3: 107,804,811 (GRCm39) D101G probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kmt2c T C 5: 25,519,699 (GRCm39) D2137G probably benign Het
Mecom T C 3: 30,011,675 (GRCm39) D619G possibly damaging Het
Met A G 6: 17,527,084 (GRCm39) I512V probably benign Het
Myh15 A G 16: 48,937,658 (GRCm39) K753R probably null Het
Nfatc4 A G 14: 56,070,091 (GRCm39) D753G probably benign Het
Or2l5 T A 16: 19,333,996 (GRCm39) H130L possibly damaging Het
Or4c113 T A 2: 88,885,240 (GRCm39) T177S probably benign Het
Or4c12 T A 2: 89,773,731 (GRCm39) T243S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp9 C T 16: 35,763,752 (GRCm39) A10V probably damaging Het
Pcdh8 C A 14: 80,007,688 (GRCm39) E292* probably null Het
Pdpn A T 4: 142,995,788 (GRCm39) V161D probably damaging Het
Peg3 A G 7: 6,711,628 (GRCm39) V1198A probably benign Het
Phykpl T C 11: 51,476,342 (GRCm39) S21P probably benign Het
Plcb1 G T 2: 135,189,322 (GRCm39) V817F possibly damaging Het
Polk T C 13: 96,620,463 (GRCm39) Y579C probably benign Het
Ppp1r18 A G 17: 36,178,511 (GRCm39) N129D probably benign Het
Psg29 C A 7: 16,945,561 (GRCm39) probably null Het
Rims4 C T 2: 163,760,596 (GRCm39) R3H probably benign Het
Rps6kl1 A T 12: 85,186,155 (GRCm39) C292S probably benign Het
Uaca G T 9: 60,777,421 (GRCm39) G603C possibly damaging Het
Vmn1r60 T C 7: 5,547,416 (GRCm39) H228R probably benign Het
Vmn2r7 T C 3: 64,623,658 (GRCm39) T221A probably benign Het
Zfp647 C A 15: 76,795,593 (GRCm39) V356L possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AACCAAGTTCACCTGCTCTC -3'
(R):5'- ACAGCTAGACCCTGAGACTC -3'

Sequencing Primer
(F):5'- TGCTCTCCTGGGCAGATAGAAG -3'
(R):5'- TAGACCCTGAGACTCATGGG -3'
Posted On 2016-09-01