Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02883:Selp'

362866

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Selp

Ensembl Gene

ENSMUSG00000026580

Gene Name

selectin, platelet

Synonyms

Grmp, CD62P, P-selectin

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

164115264-164150026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 164130102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 267 (A267T)

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: A267T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: A267T

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	splice site	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
R8196:Selp	UTSW	1	164133921	missense	possibly damaging	0.82
R8494:Selp	UTSW	1	164130266	critical splice donor site	probably null
R8870:Selp	UTSW	1	164137218	missense	probably damaging	0.96
R9021:Selp	UTSW	1	164126608	missense	probably damaging	1.00
R9125:Selp	UTSW	1	164123787	missense	probably benign	0.05
Z1176:Selp	UTSW	1	164126432	missense	probably benign	0.00
Z1177:Selp	UTSW	1	164144898	missense	possibly damaging	0.93

Posted On

2015-12-18