Incidental Mutation 'IGL02945:Selp'
ID 364676
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 # IGL02945
Quality Score
Status
Chromosome 1
Chromosomal Location 163942833-163977595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 163961498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 404 (G404S)
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: G404S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: G404S

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,633,095 (GRCm39) noncoding transcript Het
Adgrf4 T C 17: 42,978,257 (GRCm39) Q362R probably benign Het
Akap6 A G 12: 52,927,620 (GRCm39) N177D probably damaging Het
Alms1 A G 6: 85,597,915 (GRCm39) I914V probably damaging Het
Arhgap11a A T 2: 113,667,818 (GRCm39) S394R possibly damaging Het
Cacna1h C T 17: 25,607,033 (GRCm39) V962I probably damaging Het
Calr3 A T 8: 73,192,401 (GRCm39) L91Q probably damaging Het
Ccnf T C 17: 24,443,890 (GRCm39) E626G probably damaging Het
Clec10a A T 11: 70,061,368 (GRCm39) I295F possibly damaging Het
Cop1 A T 1: 159,134,259 (GRCm39) N167I probably benign Het
Csmd1 G T 8: 16,321,584 (GRCm39) Q505K possibly damaging Het
Ctrc A C 4: 141,573,563 (GRCm39) V6G possibly damaging Het
Cyp2c69 T C 19: 39,875,091 (GRCm39) R21G possibly damaging Het
Dnah5 A G 15: 28,270,572 (GRCm39) H958R probably benign Het
Egfr T A 11: 16,702,514 (GRCm39) L11Q probably damaging Het
Erich2 A G 2: 70,364,738 (GRCm39) T371A probably damaging Het
Fbxl21 T A 13: 56,674,983 (GRCm39) F111L probably damaging Het
Grik4 G T 9: 42,509,175 (GRCm39) T416N possibly damaging Het
Grin3a A G 4: 49,792,971 (GRCm39) V254A possibly damaging Het
Hat1 G A 2: 71,251,037 (GRCm39) R195K probably benign Het
Hmgb4 A C 4: 128,154,387 (GRCm39) Y60* probably null Het
Ighv12-3 A G 12: 114,330,337 (GRCm39) W53R probably damaging Het
Irs2 C A 8: 11,057,781 (GRCm39) C217F probably damaging Het
Kcnb1 T C 2: 167,030,308 (GRCm39) E79G probably benign Het
Lingo3 A G 10: 80,670,532 (GRCm39) I466T probably damaging Het
Lyst T C 13: 13,935,783 (GRCm39) S3665P possibly damaging Het
Myh9 A T 15: 77,646,205 (GRCm39) L1926Q probably benign Het
Myom1 A G 17: 71,399,088 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,245,569 (GRCm39) F198L probably damaging Het
Nktr A G 9: 121,557,697 (GRCm39) T63A probably damaging Het
Nle1 A T 11: 82,794,910 (GRCm39) probably benign Het
Nr3c2 A T 8: 77,636,288 (GRCm39) D463V probably damaging Het
Or5k17 A T 16: 58,746,703 (GRCm39) I77N probably damaging Het
Or8b43 A G 9: 38,360,812 (GRCm39) I215V probably benign Het
Pcdhb18 T C 18: 37,623,048 (GRCm39) I126T probably benign Het
Pgm1 A G 4: 99,818,731 (GRCm39) I127V probably benign Het
Rai14 A G 15: 10,574,795 (GRCm39) I721T probably benign Het
Rps6ka1 A G 4: 133,594,510 (GRCm39) Y57H probably damaging Het
Scara3 T A 14: 66,168,660 (GRCm39) D319V probably damaging Het
Serinc3 A G 2: 163,472,836 (GRCm39) probably benign Het
Slc4a8 A G 15: 100,705,080 (GRCm39) probably null Het
Spen G T 4: 141,221,624 (GRCm39) L325I unknown Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Thumpd1 A T 7: 119,315,970 (GRCm39) S326R possibly damaging Het
Tmem255b T C 8: 13,505,141 (GRCm39) S149P probably damaging Het
Tnni3k A T 3: 154,743,075 (GRCm39) S95T possibly damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Ttn A T 2: 76,582,316 (GRCm39) I22859N probably damaging Het
Zfp319 A T 8: 96,050,446 (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
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
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 2015-12-18