Incidental Mutation 'IGL02883:Selp'
ID362866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selp
Ensembl Gene ENSMUSG00000026580
Gene Nameselectin, platelet
SynonymsGrmp, CD62P, P-selectin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.225) question?
Stock #IGL02883
Quality Score
Status
Chromosome1
Chromosomal Location164115264-164150026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 164130102 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 267 (A267T)
Ref Sequence ENSEMBL: ENSMUSP00000123924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162746]
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: A267T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: A267T

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in Selp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Selp APN 1 164143892 critical splice acceptor site probably null
IGL02430:Selp APN 1 164126383 missense probably damaging 1.00
IGL02591:Selp APN 1 164130133 missense probably damaging 1.00
IGL02945:Selp APN 1 164133929 missense probably damaging 1.00
PIT4812001:Selp UTSW 1 164132263 missense probably benign 0.29
R1571:Selp UTSW 1 164126607 missense probably damaging 1.00
R1731:Selp UTSW 1 164141440 nonsense probably null
R1758:Selp UTSW 1 164132285 missense possibly damaging 0.64
R1834:Selp UTSW 1 164128160 splice site probably null
R1951:Selp UTSW 1 164126512 missense probably benign 0.36
R1953:Selp UTSW 1 164126512 missense probably benign 0.36
R1987:Selp UTSW 1 164142758 missense probably damaging 0.98
R2244:Selp UTSW 1 164137286 nonsense probably null
R2484:Selp UTSW 1 164143954 missense probably benign 0.43
R2484:Selp UTSW 1 164143955 missense probably damaging 1.00
R3440:Selp UTSW 1 164123775 missense probably benign 0.17
R3831:Selp UTSW 1 164132280 nonsense probably null
R3958:Selp UTSW 1 164126286 missense probably benign 0.03
R4795:Selp UTSW 1 164144906 missense probably benign 0.15
R4796:Selp UTSW 1 164144906 missense probably benign 0.15
R4807:Selp UTSW 1 164143936 missense probably damaging 1.00
R4832:Selp UTSW 1 164126340 missense probably damaging 1.00
R4917:Selp UTSW 1 164144906 missense probably damaging 0.99
R4921:Selp UTSW 1 164141397 missense possibly damaging 0.93
R5399:Selp UTSW 1 164126586 missense possibly damaging 0.93
R5734:Selp UTSW 1 164143891 splice site probably benign
R5752:Selp UTSW 1 164137242 missense probably damaging 1.00
R6035:Selp UTSW 1 164141510 missense probably benign 0.44
R6035:Selp UTSW 1 164141510 missense probably benign 0.44
R6185:Selp UTSW 1 164126346 missense probably damaging 1.00
R6555:Selp UTSW 1 164141602 intron probably null
R6955:Selp UTSW 1 164144909 missense possibly damaging 0.94
R7106:Selp UTSW 1 164126422 missense probably benign 0.12
R7677:Selp UTSW 1 164133956 missense probably damaging 1.00
R7831:Selp UTSW 1 164145015 critical splice donor site probably null
R7914:Selp UTSW 1 164145015 critical splice donor site probably null
Z1176:Selp UTSW 1 164126432 missense probably benign 0.00
Z1177:Selp UTSW 1 164144898 missense possibly damaging 0.93
Posted On2015-12-18