Incidental Mutation 'R1222:Selplg'
| ID |
152752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selplg
|
| Ensembl Gene |
ENSMUSG00000048163 |
| Gene Name |
selectin, platelet (p-selectin) ligand |
| Synonyms |
Psgl-1, CD162, Psgl1 |
| MMRRC Submission |
039291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113956597-113970705 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 113957434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 291
(V291M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100874]
[ENSMUST00000199109]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100874
AA Change: V291M
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098436
Gene: ENSMUSG00000048163
AA Change: V291M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
130 |
182 |
2.38e-13 |
PROSPERO |
|
internal_repeat_1
|
133 |
186 |
5.75e-16 |
PROSPERO |
|
internal_repeat_1
|
193 |
246 |
5.75e-16 |
PROSPERO |
|
internal_repeat_2
|
200 |
252 |
2.38e-13 |
PROSPERO |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199109
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201194
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201931
AA Change: V65M
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202555
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
96% (54/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neutrophillia and impaired leukocyte adhesion and rolling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,682 (GRCm39) |
L385* |
probably null |
Het |
| Abca9 |
T |
C |
11: 110,035,890 (GRCm39) |
|
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,691,006 (GRCm39) |
S842P |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,842 (GRCm39) |
V483L |
probably damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,938,824 (GRCm39) |
C365* |
probably null |
Het |
| Ap2b1 |
T |
C |
11: 83,237,564 (GRCm39) |
S543P |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,438 (GRCm39) |
T67I |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cux1 |
C |
T |
5: 136,304,003 (GRCm39) |
R1391Q |
probably benign |
Het |
| Cyp2a4 |
T |
C |
7: 26,008,013 (GRCm39) |
V140A |
possibly damaging |
Het |
| Dlgap3 |
A |
T |
4: 127,088,406 (GRCm39) |
M1L |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,689,899 (GRCm39) |
D2G |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,407,534 (GRCm39) |
V938G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,707 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
G |
A |
6: 88,177,323 (GRCm39) |
V118I |
probably benign |
Het |
| Gm2663 |
T |
C |
6: 40,972,975 (GRCm39) |
I211V |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,033,284 (GRCm39) |
N104I |
probably damaging |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,908,887 (GRCm39) |
H142L |
probably benign |
Het |
| Mmp10 |
T |
C |
9: 7,505,682 (GRCm39) |
|
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
| Mylk |
T |
C |
16: 34,681,022 (GRCm39) |
V94A |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,760 (GRCm39) |
N396K |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,100,998 (GRCm39) |
S263P |
probably benign |
Het |
| Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,798,240 (GRCm39) |
L26H |
probably damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,313 (GRCm39) |
I292F |
probably damaging |
Het |
| Or7d10 |
G |
A |
9: 19,832,344 (GRCm39) |
V280I |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,637,680 (GRCm39) |
R368S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,482,957 (GRCm39) |
D1550G |
probably damaging |
Het |
| Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
| Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,700,567 (GRCm39) |
Y505N |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,191,953 (GRCm39) |
T1496S |
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,080 (GRCm39) |
L111P |
probably benign |
Het |
| Serpinb1c |
T |
A |
13: 33,080,934 (GRCm39) |
T50S |
possibly damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,257,114 (GRCm39) |
K640E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,262,656 (GRCm39) |
H40Q |
possibly damaging |
Het |
| Taar4 |
C |
T |
10: 23,837,230 (GRCm39) |
T280I |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,395,948 (GRCm39) |
N527S |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,725,131 (GRCm39) |
T218S |
possibly damaging |
Het |
| Trim45 |
G |
T |
3: 100,834,614 (GRCm39) |
M432I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,115,782 (GRCm39) |
|
probably null |
Het |
| Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,904,524 (GRCm39) |
H1037Q |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,658,520 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Selplg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Selplg
|
APN |
5 |
113,957,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01488:Selplg
|
APN |
5 |
113,957,697 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02355:Selplg
|
APN |
5 |
113,957,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02362:Selplg
|
APN |
5 |
113,957,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4142001:Selplg
|
UTSW |
5 |
113,957,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0375:Selplg
|
UTSW |
5 |
113,958,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Selplg
|
UTSW |
5 |
113,957,905 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2925:Selplg
|
UTSW |
5 |
113,958,240 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4512:Selplg
|
UTSW |
5 |
113,957,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4702:Selplg
|
UTSW |
5 |
113,957,094 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4703:Selplg
|
UTSW |
5 |
113,957,094 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4704:Selplg
|
UTSW |
5 |
113,957,094 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4968:Selplg
|
UTSW |
5 |
113,957,787 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5075:Selplg
|
UTSW |
5 |
113,958,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6159:Selplg
|
UTSW |
5 |
113,957,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6345:Selplg
|
UTSW |
5 |
113,958,210 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6550:Selplg
|
UTSW |
5 |
113,958,210 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6554:Selplg
|
UTSW |
5 |
113,958,210 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6997:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R7050:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R7094:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R7235:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R7481:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R7604:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R7674:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R7846:Selplg
|
UTSW |
5 |
113,957,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R8051:Selplg
|
UTSW |
5 |
113,957,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8823:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R8834:Selplg
|
UTSW |
5 |
113,957,691 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8955:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9036:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9152:Selplg
|
UTSW |
5 |
113,957,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9241:Selplg
|
UTSW |
5 |
113,957,647 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9249:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9361:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9381:Selplg
|
UTSW |
5 |
113,957,917 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9434:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9446:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9482:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9670:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
R9779:Selplg
|
UTSW |
5 |
113,957,756 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Selplg
|
UTSW |
5 |
113,957,412 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGGGTCTTACGGGACAGACGG -3'
(R):5'- TGGAGGCAGACACCTCAAAGCCAG -3'
Sequencing Primer
(F):5'- GACAGACGGACCGCCAG -3'
(R):5'- AGGCAGAGACCTCTCAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation