Incidental Mutation 'R5285:Cd177'
| ID |
402983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd177
|
| Ensembl Gene |
ENSMUSG00000052212 |
| Gene Name |
CD177 antigen |
| Synonyms |
1190003K14Rik, Pdp3 |
| MMRRC Submission |
042869-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.507)
|
| Stock # |
R5285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24443408-24459736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24445674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 590
(S590T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063956]
|
| AlphaFold |
Q8R2S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063956
AA Change: S590T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: S590T
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,097 (GRCm39) |
T12A |
probably benign |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,639,706 (GRCm39) |
H685N |
possibly damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,553,752 (GRCm39) |
K539* |
probably null |
Het |
| Ap1m2 |
G |
T |
9: 21,216,933 (GRCm39) |
Y134* |
probably null |
Het |
| Apobr |
A |
G |
7: 126,184,175 (GRCm39) |
|
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,001,273 (GRCm39) |
K345R |
probably benign |
Het |
| Avil |
T |
C |
10: 126,854,328 (GRCm39) |
L765P |
probably damaging |
Het |
| Caps2 |
T |
A |
10: 112,044,216 (GRCm39) |
Y472N |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,931,454 (GRCm39) |
K458E |
unknown |
Het |
| Cep295 |
T |
C |
9: 15,233,887 (GRCm39) |
D2223G |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,028,636 (GRCm39) |
T493A |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,625,748 (GRCm39) |
D299G |
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Crhr1 |
A |
T |
11: 104,061,323 (GRCm39) |
I243F |
possibly damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,791,893 (GRCm39) |
V500A |
probably benign |
Het |
| Dcdc5 |
A |
T |
2: 106,198,500 (GRCm39) |
|
noncoding transcript |
Het |
| Ergic3 |
A |
G |
2: 155,859,957 (GRCm39) |
|
probably benign |
Het |
| Fabp3-ps1 |
T |
G |
10: 86,568,066 (GRCm39) |
|
probably benign |
Het |
| Gm6445 |
C |
A |
19: 9,585,032 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2d |
C |
A |
7: 98,107,474 (GRCm39) |
|
probably null |
Het |
| Ighv1-19-1 |
C |
A |
12: 114,667,872 (GRCm39) |
|
probably benign |
Het |
| Igkv2-116 |
G |
T |
6: 68,129,463 (GRCm39) |
R75L |
probably benign |
Het |
| Inhbc |
C |
A |
10: 127,193,269 (GRCm39) |
R249L |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,011 (GRCm39) |
V227A |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,579,350 (GRCm39) |
N587S |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,818,066 (GRCm39) |
E126K |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,197,982 (GRCm39) |
S1204P |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,283,475 (GRCm39) |
I413T |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,582,760 (GRCm39) |
Y328* |
probably null |
Het |
| Or1e25 |
T |
A |
11: 73,493,767 (GRCm39) |
Y120* |
probably null |
Het |
| Or51a24 |
A |
G |
7: 103,733,340 (GRCm39) |
*316R |
probably null |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or5k15 |
A |
T |
16: 58,710,471 (GRCm39) |
Y37* |
probably null |
Het |
| Or5k3 |
T |
C |
16: 58,969,633 (GRCm39) |
L140P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,019,985 (GRCm39) |
D155G |
probably damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,937,527 (GRCm39) |
T1176I |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,114,973 (GRCm39) |
|
probably benign |
Het |
| Prl8a2 |
G |
A |
13: 27,534,116 (GRCm39) |
|
probably null |
Het |
| Prmt7 |
G |
A |
8: 106,974,991 (GRCm39) |
R529Q |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,554,126 (GRCm39) |
L41F |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,663,726 (GRCm39) |
R73G |
probably benign |
Het |
| Rhpn2 |
G |
T |
7: 35,080,990 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sarm1 |
A |
G |
11: 78,388,265 (GRCm39) |
F7S |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,778,674 (GRCm39) |
|
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,294,686 (GRCm39) |
K99R |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,310,334 (GRCm39) |
T1018I |
probably damaging |
Het |
| Spns2 |
G |
A |
11: 72,380,305 (GRCm39) |
A106V |
possibly damaging |
Het |
| Stab1 |
A |
G |
14: 30,865,433 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
T |
C |
1: 120,169,610 (GRCm39) |
D191G |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,674,019 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,034,191 (GRCm39) |
|
probably null |
Het |
| Tm6sf1 |
A |
G |
7: 81,509,200 (GRCm39) |
S2G |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,230 (GRCm39) |
D1720E |
probably benign |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,457 (GRCm39) |
E78K |
possibly damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,843,703 (GRCm39) |
L47P |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,365,442 (GRCm39) |
N544S |
probably damaging |
Het |
| Vwa1 |
C |
T |
4: 155,855,352 (GRCm39) |
A254T |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
| Zfp940 |
A |
T |
7: 29,545,025 (GRCm39) |
L294H |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACAGAGATCTCAGGTGTG -3'
(R):5'- CCTGGAGGCTTTGAGTTCTC -3'
Sequencing Primer
(F):5'- CTGGACAGGATCTACAGGGCAC -3'
(R):5'- CGGTCCCTCCTTAATGCAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation