Mutagenetix > Incidental Mutation

Incidental Mutation 'R4795:Selp'

368893

Institutional Source

Beutler Lab

Gene Symbol

Selp

Ensembl Gene

ENSMUSG00000026580

Gene Name

selectin, platelet

Synonyms

P-selectin, Grmp, CD62P

MMRRC Submission

041996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4795 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163942833-163977595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163972475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 705 (T705A)

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

noncoding transcript
Transcript: ENSMUST00000133341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161020

Predicted Effect

probably benign
Transcript: ENSMUST00000161152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162102

Predicted Effect

probably benign
Transcript: ENSMUST00000162746
AA Change: T705A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: T705A

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

0.0674

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (123/125)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 121,969,772 (GRCm39)	L2259R	probably damaging	Het
Acd	A	G	8: 106,427,647 (GRCm39)	S2P	possibly damaging	Het
Acsf3	A	G	8: 123,506,896 (GRCm39)	Y63C	possibly damaging	Het
Adam21	T	C	12: 81,607,748 (GRCm39)	I5V	probably benign	Het
Adamts6	C	A	13: 104,580,636 (GRCm39)	S783*	probably null	Het
Adamtsl1	T	C	4: 86,162,006 (GRCm39)		probably null	Het
Adck2	T	A	6: 39,553,327 (GRCm39)	S313T	probably benign	Het
Adgb	A	G	10: 10,233,616 (GRCm39)	I1285T	probably benign	Het
Angptl1	T	A	1: 156,688,153 (GRCm39)	M485K	possibly damaging	Het
Ank3	G	A	10: 69,694,095 (GRCm39)	V289I	probably benign	Het
Atp13a4	A	G	16: 29,308,826 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,491,091 (GRCm39)	L648P	probably benign	Het
Atp2a3	A	G	11: 72,863,855 (GRCm39)	I194V	probably benign	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Ccdc112	T	A	18: 46,420,739 (GRCm39)	Q337L	probably benign	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Cd34	T	G	1: 194,633,319 (GRCm39)	S194A	probably damaging	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Commd9	A	G	2: 101,729,241 (GRCm39)	N116D	probably benign	Het
Dab2	C	A	15: 6,459,092 (GRCm39)	P335T	probably benign	Het
Epb41l3	T	A	17: 69,555,714 (GRCm39)		probably null	Het
Epha2	A	G	4: 141,049,727 (GRCm39)		probably null	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fars2	A	T	13: 36,721,400 (GRCm39)	E448V	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Glyr1	A	C	16: 4,865,622 (GRCm39)	V44G	probably benign	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm18856	C	A	13: 14,139,793 (GRCm39)		probably benign	Het
Gm44501	A	G	17: 40,889,605 (GRCm39)	K40E	probably benign	Het
Hdhd5	T	C	6: 120,500,407 (GRCm39)	H97R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hsf5	A	G	11: 87,526,446 (GRCm39)	M373V	probably benign	Het
Igbp1b	C	T	6: 138,634,803 (GRCm39)	E214K	probably benign	Het
Iigp1	T	A	18: 60,522,964 (GRCm39)	F27L	probably benign	Het
Isl1	T	C	13: 116,441,966 (GRCm39)	N89S	probably benign	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Kbtbd3	G	A	9: 4,331,073 (GRCm39)	W482*	probably null	Het
Kcnq1	A	G	7: 142,736,494 (GRCm39)	T168A	probably benign	Het
Lrch3	A	G	16: 32,826,074 (GRCm39)	N631S	probably damaging	Het
Lrrk1	T	A	7: 65,912,413 (GRCm39)	I1716F	possibly damaging	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Map4	T	C	9: 109,864,331 (GRCm39)	S519P	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mrtfa	C	T	15: 80,901,234 (GRCm39)	S419N	probably damaging	Het
Muc5b	A	G	7: 141,403,304 (GRCm39)	E755G	unknown	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Necab1	G	T	4: 15,111,208 (GRCm39)	D73E	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nfyb	A	T	10: 82,588,202 (GRCm39)		probably benign	Het
Nol4	T	C	18: 23,054,944 (GRCm39)	Q162R	probably damaging	Het
Nwd2	G	A	5: 63,962,776 (GRCm39)	D787N	probably benign	Het
Olfr908	T	A	9: 38,427,799 (GRCm39)	M157K	probably damaging	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or11g7	A	C	14: 50,690,874 (GRCm39)	M122L	probably damaging	Het
Or13a22	A	G	7: 140,072,920 (GRCm39)	D123G	probably damaging	Het
Or5ac23	C	T	16: 59,149,213 (GRCm39)	V220I	probably benign	Het
Or6a2	C	T	7: 106,600,542 (GRCm39)	G175D	probably damaging	Het
Or6e1	A	G	14: 54,520,004 (GRCm39)	M116T	probably damaging	Het
Orai3	T	C	7: 127,373,060 (GRCm39)	V187A	probably benign	Het
Parn	T	C	16: 13,424,066 (GRCm39)	T444A	probably benign	Het
Pcdh11x	A	C	X: 119,309,937 (GRCm39)	N460T	probably damaging	Het
Pcnt	C	T	10: 76,205,858 (GRCm39)	R2516H	probably benign	Het
Pde4d	T	A	13: 110,074,705 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pgm2	A	G	5: 64,261,217 (GRCm39)	Y237C	probably damaging	Het
Plcb2	A	G	2: 118,541,605 (GRCm39)	V975A	probably benign	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Ppp6r1	C	T	7: 4,644,053 (GRCm39)	V430M	possibly damaging	Het
Ptges2	C	A	2: 32,286,334 (GRCm39)	C16*	probably null	Het
Relb	A	T	7: 19,353,764 (GRCm39)	I38N	probably damaging	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Samsn1	A	G	16: 75,680,733 (GRCm39)		probably benign	Het
Scrn1	A	G	6: 54,497,754 (GRCm39)	V279A	possibly damaging	Het
Sec31b	A	G	19: 44,520,185 (GRCm39)	S200P	probably benign	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Slit3	G	A	11: 35,542,647 (GRCm39)		probably null	Het
Smo	T	A	6: 29,755,573 (GRCm39)	V415E	probably damaging	Het
Spag8	C	A	4: 43,652,035 (GRCm39)	V350L	possibly damaging	Het
Tbck	T	G	3: 132,413,559 (GRCm39)	L132R	possibly damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Tm9sf2	T	A	14: 122,387,252 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,880,757 (GRCm39)	V171A	probably damaging	Het
Tmem209	T	C	6: 30,501,954 (GRCm39)	T83A	probably benign	Het
Tmem63a	T	C	1: 180,782,416 (GRCm39)	Y138H	probably damaging	Het
Trim80	A	G	11: 115,338,769 (GRCm39)	Y533C	probably damaging	Het
Trpv2	A	G	11: 62,472,006 (GRCm39)	D66G	possibly damaging	Het
Trrap	T	A	5: 144,769,298 (GRCm39)	I2620N	probably benign	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Ube2dnl1	G	A	X: 113,815,482 (GRCm39)	C119Y	possibly damaging	Het
Unc13c	T	A	9: 73,839,469 (GRCm39)	S461C	probably damaging	Het
Unc80	T	G	1: 66,567,100 (GRCm39)	I902S	probably damaging	Het
Usp42	C	A	5: 143,709,692 (GRCm39)	G170W	probably damaging	Het
Vldlr	T	C	19: 27,216,252 (GRCm39)		probably null	Het
Ywhab	A	G	2: 163,857,265 (GRCm39)	Y180C	probably damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zbtb40	C	T	4: 136,725,953 (GRCm39)	M535I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp318	A	G	17: 46,722,988 (GRCm39)	T1664A	probably benign	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	Het
Zfp768	T	C	7: 126,942,547 (GRCm39)	Q527R	possibly damaging	Het
Zfp975	T	A	7: 42,314,570 (GRCm39)		probably null	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
R3958:Selp	UTSW	1	163,953,855 (GRCm39)	missense	probably benign	0.03
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'- GTACTTAGGATGCAGACAGTCCC -3'
(R):5'- TGTTTCCAAACAGCAACTACTG -3'

Sequencing Primer
(F):5'- TCTGCTACAGTGGATTTCTGAC -3'
(R):5'- TCCAAACAGCAACTACTGACTTTATC -3'

Posted On

2016-02-04