Incidental Mutation 'IGL02430:Selp'
ID 293104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selp
Ensembl Gene ENSMUSG00000026580
Gene Name selectin, platelet
Synonyms P-selectin, Grmp, CD62P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # IGL02430
Quality Score
Status
Chromosome 1
Chromosomal Location 163942833-163977595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 163953952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 84 (P84Q)
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 damaging
Transcript: ENSMUST00000162746
AA Change: P84Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: P84Q

DomainStartEndE-ValueType
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
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,222,185 (GRCm39) E1249G probably benign Het
C8a G A 4: 104,674,719 (GRCm39) T540I probably damaging Het
Clcnkb C A 4: 141,136,701 (GRCm39) W388L possibly damaging Het
Cnbp A T 6: 87,822,160 (GRCm39) Y114* probably null Het
Col13a1 A G 10: 61,710,530 (GRCm39) V337A probably benign Het
Cyp2e1 A G 7: 140,350,139 (GRCm39) K275E probably damaging Het
Dchs1 A G 7: 105,421,178 (GRCm39) V414A probably benign Het
Ebf1 G A 11: 44,815,403 (GRCm39) probably null Het
Gabbr1 C T 17: 37,367,200 (GRCm39) R198* probably null Het
Gpaa1 T C 15: 76,216,388 (GRCm39) S36P possibly damaging Het
Hipk1 A G 3: 103,667,971 (GRCm39) V532A probably damaging Het
Klhl18 A T 9: 110,266,469 (GRCm39) C217S probably benign Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Ltbp2 T A 12: 84,846,175 (GRCm39) Y925F probably damaging Het
Lvrn A G 18: 47,027,797 (GRCm39) I871V probably benign Het
Mrgprb1 A G 7: 48,097,409 (GRCm39) S168P possibly damaging Het
Or11g24 A G 14: 50,662,608 (GRCm39) I211V probably benign Het
Or5p70 A T 7: 107,994,929 (GRCm39) I201F probably benign Het
Pcnx1 T A 12: 81,966,096 (GRCm39) N754K possibly damaging Het
Plaa A T 4: 94,470,810 (GRCm39) M442K probably benign Het
Pole3 T C 4: 62,443,056 (GRCm39) N28S possibly damaging Het
Pramel18 A G 4: 101,767,477 (GRCm39) Y242C probably benign Het
Prlr A G 15: 10,325,477 (GRCm39) K4E probably damaging Het
Rp1l1 A T 14: 64,266,735 (GRCm39) T774S probably benign Het
Sh3bp4 T A 1: 89,080,885 (GRCm39) W901R probably null Het
Slc6a20b A G 9: 123,426,305 (GRCm39) Y527H probably damaging Het
Slit3 T A 11: 35,068,601 (GRCm39) probably null Het
Spidr C T 16: 15,932,774 (GRCm39) D169N probably damaging Het
Sstr2 T C 11: 113,515,630 (GRCm39) L183P probably damaging Het
Tmem62 C T 2: 120,817,143 (GRCm39) T233I probably damaging Het
Uba7 A G 9: 107,856,667 (GRCm39) probably benign Het
Ubc A T 5: 125,464,634 (GRCm39) I231N probably damaging Het
Ubl3 A T 5: 148,488,766 (GRCm39) D8E probably benign Het
Unc5a A G 13: 55,150,295 (GRCm39) I465M probably damaging Het
Vmn2r106 A G 17: 20,499,158 (GRCm39) I251T probably benign Het
Vwa8 T C 14: 79,172,085 (GRCm39) probably null Het
Washc5 A G 15: 59,238,140 (GRCm39) Y195H probably damaging Het
Wdr27 A C 17: 15,122,062 (GRCm39) S615A probably damaging Het
Zfp160 T A 17: 21,245,792 (GRCm39) L114H possibly damaging Het
Zfp523 T C 17: 28,414,113 (GRCm39) probably benign Het
Other mutations in Selp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Selp APN 1 163,971,461 (GRCm39) critical splice acceptor site probably null
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
R3958:Selp UTSW 1 163,953,855 (GRCm39) missense probably benign 0.03
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
Posted On 2015-04-16