Incidental Mutation 'R3958:Selp'
| ID |
310789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selp
|
| Ensembl Gene |
ENSMUSG00000026580 |
| Gene Name |
selectin, platelet |
| Synonyms |
P-selectin, Grmp, CD62P |
| MMRRC Submission |
040834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R3958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163942833-163977595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163953855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 52
(S52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162746]
|
| AlphaFold |
Q01102 |
| PDB Structure |
Structure of the SNX17 atypical FERM domain bound to the NPxY motif of P-selectin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162746
AA Change: S52P
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
30 |
159 |
2.89e-16 |
SMART |
|
EGF
|
162 |
195 |
1.97e-4 |
SMART |
|
CCP
|
200 |
257 |
1.31e-14 |
SMART |
|
CCP
|
262 |
319 |
4.02e-15 |
SMART |
|
CCP
|
324 |
381 |
5.91e-13 |
SMART |
|
CCP
|
386 |
443 |
1.46e-12 |
SMART |
|
CCP
|
448 |
505 |
3.9e-13 |
SMART |
|
CCP
|
510 |
567 |
1.95e-13 |
SMART |
|
CCP
|
580 |
637 |
1.97e-9 |
SMART |
|
CCP
|
642 |
699 |
3.9e-13 |
SMART |
|
transmembrane domain
|
711 |
733 |
N/A |
INTRINSIC |
|
PDB:4GXB|B
|
741 |
768 |
2e-12 |
PDB |
|
| Meta Mutation Damage Score |
0.1646 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit mildly attenuated inflammatory responses, increased numbers of circulating neutrophils, lack of leukocyte rolling in mesenteric venules, and increased survival after Plasmodium berghei infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
| Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
| Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
| Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
probably damaging |
Het |
|
| Other mutations in Selp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01627:Selp
|
APN |
1 |
163,971,461 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02430:Selp
|
APN |
1 |
163,953,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02591:Selp
|
APN |
1 |
163,957,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02883:Selp
|
APN |
1 |
163,957,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02945:Selp
|
APN |
1 |
163,961,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Selp
|
UTSW |
1 |
163,959,832 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1571:Selp
|
UTSW |
1 |
163,954,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Selp
|
UTSW |
1 |
163,969,009 (GRCm39) |
nonsense |
probably null |
|
|
R1758:Selp
|
UTSW |
1 |
163,959,854 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1834:Selp
|
UTSW |
1 |
163,955,729 (GRCm39) |
splice site |
probably null |
|
|
R1951:Selp
|
UTSW |
1 |
163,954,081 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1953:Selp
|
UTSW |
1 |
163,954,081 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1987:Selp
|
UTSW |
1 |
163,970,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2244:Selp
|
UTSW |
1 |
163,964,855 (GRCm39) |
nonsense |
probably null |
|
|
R2484:Selp
|
UTSW |
1 |
163,971,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Selp
|
UTSW |
1 |
163,971,523 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3440:Selp
|
UTSW |
1 |
163,951,344 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3831:Selp
|
UTSW |
1 |
163,959,849 (GRCm39) |
nonsense |
probably null |
|
|
R4795:Selp
|
UTSW |
1 |
163,972,475 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4796:Selp
|
UTSW |
1 |
163,972,475 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4807:Selp
|
UTSW |
1 |
163,971,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4832:Selp
|
UTSW |
1 |
163,953,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Selp
|
UTSW |
1 |
163,972,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4921:Selp
|
UTSW |
1 |
163,968,966 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5399:Selp
|
UTSW |
1 |
163,954,155 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5734:Selp
|
UTSW |
1 |
163,971,460 (GRCm39) |
splice site |
probably benign |
|
|
R5752:Selp
|
UTSW |
1 |
163,964,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Selp
|
UTSW |
1 |
163,969,079 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6035:Selp
|
UTSW |
1 |
163,969,079 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6185:Selp
|
UTSW |
1 |
163,953,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Selp
|
UTSW |
1 |
163,969,171 (GRCm39) |
splice site |
probably null |
|
|
R6955:Selp
|
UTSW |
1 |
163,972,478 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7106:Selp
|
UTSW |
1 |
163,953,991 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7677:Selp
|
UTSW |
1 |
163,961,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Selp
|
UTSW |
1 |
163,972,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8196:Selp
|
UTSW |
1 |
163,961,490 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8494:Selp
|
UTSW |
1 |
163,957,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8870:Selp
|
UTSW |
1 |
163,964,787 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9021:Selp
|
UTSW |
1 |
163,954,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Selp
|
UTSW |
1 |
163,951,356 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9442:Selp
|
UTSW |
1 |
163,964,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Selp
|
UTSW |
1 |
163,957,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9668:Selp
|
UTSW |
1 |
163,968,975 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9684:Selp
|
UTSW |
1 |
163,953,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Selp
|
UTSW |
1 |
163,954,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Selp
|
UTSW |
1 |
163,972,467 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGAAAATAGCCTTGTTCTTGG -3'
(R):5'- ATCATTCCACTTGCCAGGGG -3'
Sequencing Primer
(F):5'- GGCATTCATCTTCTGGTGAGC -3'
(R):5'- GATGTAGATCTCCACACAGTCCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation