Incidental Mutation 'IGL02532:Cd177'
| ID |
297368 |
| 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)
|
| Stock # |
IGL02532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24443408-24459736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24444674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 636
(K636E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063956]
|
| AlphaFold |
Q8R2S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063956
AA Change: K636E
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: K636E
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
| Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
| Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
| Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
| Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
| Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
| Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
| Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
| Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
| Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
| Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
| Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
| Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
| Other mutations in Cd177 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation