Incidental Mutation 'R9241:Selplg'
| ID |
700735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selplg
|
| Ensembl Gene |
ENSMUSG00000048163 |
| Gene Name |
selectin, platelet (p-selectin) ligand |
| Synonyms |
Psgl-1, CD162, Psgl1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R9241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
113956597-113970705 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113957647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 220
(N220Y)
|
| 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: N220Y
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098436
Gene: ENSMUSG00000048163
AA Change: N220Y
| 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 |
probably benign
Transcript: ENSMUST00000199109
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202555
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (51/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,937 (GRCm39) |
L390P |
probably damaging |
Het |
| AL732309.1 |
T |
A |
2: 25,135,919 (GRCm39) |
E98D |
possibly damaging |
Het |
| Aldh2 |
T |
C |
5: 121,710,220 (GRCm39) |
I372V |
probably benign |
Het |
| Amph |
G |
T |
13: 19,278,972 (GRCm39) |
R149L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,688,887 (GRCm39) |
V8A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,291,345 (GRCm39) |
V821E |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,743,993 (GRCm39) |
Q1504L |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,301 (GRCm39) |
G158W |
probably damaging |
Het |
| Cryge |
T |
G |
1: 65,088,018 (GRCm39) |
D97A |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,886,058 (GRCm39) |
T594A |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,566 (GRCm39) |
H3892R |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gm9922 |
A |
T |
14: 101,967,220 (GRCm39) |
S11T |
unknown |
Het |
| Hcfc2 |
T |
C |
10: 82,568,485 (GRCm39) |
V43A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 117,793,249 (GRCm39) |
F167S |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,507 (GRCm39) |
I1012M |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,833,313 (GRCm39) |
I603T |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,671,788 (GRCm39) |
M937I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,271,952 (GRCm39) |
D6532G |
probably damaging |
Het |
| Mapk13 |
A |
T |
17: 28,990,187 (GRCm39) |
D102V |
probably damaging |
Het |
| Mapt |
A |
T |
11: 104,189,797 (GRCm39) |
T272S |
probably benign |
Het |
| Mfap3 |
A |
G |
11: 57,420,672 (GRCm39) |
T218A |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,653 (GRCm39) |
H2460Q |
possibly damaging |
Het |
| Nalcn |
G |
T |
14: 123,809,429 (GRCm39) |
P241Q |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,822,611 (GRCm39) |
T378A |
possibly damaging |
Het |
| Oprl1 |
C |
T |
2: 181,360,405 (GRCm39) |
R154C |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,781 (GRCm39) |
M40V |
probably benign |
Het |
| Pcdha8 |
C |
T |
18: 37,127,008 (GRCm39) |
R497W |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,017,115 (GRCm39) |
V214A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,204 (GRCm39) |
|
probably null |
Het |
| Pole3 |
A |
G |
4: 62,442,845 (GRCm39) |
|
probably benign |
Het |
| Prkn |
A |
T |
17: 11,456,382 (GRCm39) |
I69L |
probably benign |
Het |
| Psd3 |
G |
T |
8: 68,415,967 (GRCm39) |
N357K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,815,576 (GRCm39) |
D1696V |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,067 (GRCm39) |
R2012Q |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,250 (GRCm39) |
T203A |
probably benign |
Het |
| Scgb1a1 |
T |
C |
19: 9,065,293 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
C |
A |
11: 117,109,724 (GRCm39) |
R15S |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,550,604 (GRCm39) |
S446A |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,976,209 (GRCm39) |
N833D |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,122 (GRCm39) |
D956E |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,885,420 (GRCm39) |
Y2060* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,010 (GRCm39) |
F21L |
probably benign |
Het |
| Tmem200c |
G |
T |
17: 69,144,161 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
A |
C |
16: 32,488,916 (GRCm39) |
D252A |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,691,558 (GRCm39) |
V299I |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,151,182 (GRCm39) |
N790S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,308,697 (GRCm39) |
T641I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,321,520 (GRCm39) |
Q45L |
probably benign |
Het |
| Zswim9 |
A |
T |
7: 13,003,360 (GRCm39) |
D163E |
probably damaging |
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 |
|
R1222:Selplg
|
UTSW |
5 |
113,957,434 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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'- GACTCGTTAGACTCTGTGGAC -3'
(R):5'- GCATCCACAGAGGTAGAGAC -3'
Sequencing Primer
(F):5'- TTAGACTCTGTGGACGCCGTC -3'
(R):5'- TAGAGACCTCGCAGCCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation