Mutagenetix > Incidental Mutation

Incidental Mutation 'R2484:Selp'

250754

Institutional Source

Beutler Lab

Gene Symbol

Selp

Ensembl Gene

ENSMUSG00000026580

Gene Name

selectin, platelet

Synonyms

P-selectin, Grmp, CD62P

MMRRC Submission

040408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R2484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163942833-163977595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 163971524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 659 (W659C)

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 damaging
Transcript: ENSMUST00000162746
AA Change: W659C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: W659C

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

0.3054

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (72/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,541,819 (GRCm39)	D46N	possibly damaging	Het
A830018L16Rik	G	T	1: 11,666,526 (GRCm39)	A278S	probably damaging	Het
Acsbg3	A	G	17: 57,189,641 (GRCm39)	N252S	probably benign	Het
Adarb2	A	T	13: 8,619,810 (GRCm39)	K99*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atxn1l	A	G	8: 110,458,883 (GRCm39)	S460P	probably damaging	Het
Bicra	T	A	7: 15,722,605 (GRCm39)	N304I	possibly damaging	Het
Capn10	A	T	1: 92,872,565 (GRCm39)	D470V	probably damaging	Het
Chchd3	A	G	6: 32,780,950 (GRCm39)	Y184H	possibly damaging	Het
Col6a6	T	C	9: 105,658,003 (GRCm39)	I736M	probably damaging	Het
Dhx36	T	A	3: 62,380,236 (GRCm39)	N820I	probably damaging	Het
Drd4	C	T	7: 140,874,649 (GRCm39)	P347S	probably benign	Het
Ephx1	A	T	1: 180,817,537 (GRCm39)	V378D	probably damaging	Het
Extl3	A	T	14: 65,313,184 (GRCm39)	V666E	probably damaging	Het
Fam20c	G	C	5: 138,794,872 (GRCm39)	R500S	probably benign	Het
Glod4	A	T	11: 76,130,344 (GRCm39)	D42E	probably damaging	Het
Golga2	T	C	2: 32,194,782 (GRCm39)	I643T	probably benign	Het
Hnf1b	A	T	11: 83,752,661 (GRCm39)	T73S	probably benign	Het
Hydin	A	G	8: 111,239,747 (GRCm39)	Y2009C	possibly damaging	Het
Ido2	A	G	8: 25,023,831 (GRCm39)	C336R	probably damaging	Het
Ifngr1	T	C	10: 19,477,163 (GRCm39)	V108A	probably damaging	Het
Igbp1b	A	T	6: 138,634,492 (GRCm39)	N317K	probably benign	Het
Ints14	A	G	9: 64,893,366 (GRCm39)	S511G	probably benign	Het
Itpr1	T	C	6: 108,346,071 (GRCm39)	S125P	probably damaging	Het
Jag1	T	C	2: 136,926,620 (GRCm39)	T975A	possibly damaging	Het
Klra17	A	G	6: 129,845,720 (GRCm39)	W165R	probably damaging	Het
Leo1	T	A	9: 75,352,755 (GRCm39)	N99K	possibly damaging	Het
Lonp1	C	A	17: 56,921,659 (GRCm39)	G883C	probably damaging	Het
Lpin1	C	A	12: 16,597,500 (GRCm39)	G682W	probably damaging	Het
Macf1	A	C	4: 123,367,465 (GRCm39)	L2432R	probably damaging	Het
Med12l	T	G	3: 59,205,259 (GRCm39)	I2075M	probably benign	Het
Mroh6	A	G	15: 75,756,177 (GRCm39)	S660P	probably benign	Het
Myh6	G	T	14: 55,198,699 (GRCm39)	Y309*	probably null	Het
Myof	C	T	19: 37,892,291 (GRCm39)	R1154H	probably benign	Het
Myrip	G	A	9: 120,253,685 (GRCm39)	E253K	probably benign	Het
Ndst3	T	C	3: 123,346,186 (GRCm39)	D281G	possibly damaging	Het
Nipbl	T	C	15: 8,353,182 (GRCm39)	K1788R	probably damaging	Het
Nol12	A	G	15: 78,824,717 (GRCm39)		probably benign	Het
Nptn	A	G	9: 58,550,956 (GRCm39)	T212A	possibly damaging	Het
Nptx2	C	T	5: 144,493,155 (GRCm39)	A414V	probably damaging	Het
Nub1	A	G	5: 24,913,700 (GRCm39)	D503G	possibly damaging	Het
Obscn	T	A	11: 58,898,366 (GRCm39)		probably benign	Het
Or4a80	A	G	2: 89,582,578 (GRCm39)	I198T	probably benign	Het
Or51q1	A	G	7: 103,628,545 (GRCm39)	T49A	probably benign	Het
Or5b97	C	T	19: 12,879,005 (GRCm39)	M46I	probably benign	Het
Pcnx2	T	C	8: 126,617,859 (GRCm39)	E132G	probably damaging	Het
Pkdcc	A	G	17: 83,529,667 (GRCm39)		probably benign	Het
Prdm2	T	A	4: 142,861,776 (GRCm39)	I505F	probably damaging	Het
Psmc3	C	G	2: 90,886,346 (GRCm39)	Q169E	probably damaging	Het
Ptger4	A	T	15: 5,264,654 (GRCm39)	I334N	probably benign	Het
Ptrh1	T	C	2: 32,667,183 (GRCm39)	M161T	probably benign	Het
Rapgef6	T	A	11: 54,533,582 (GRCm39)	V482D	possibly damaging	Het
Rdh16f2	T	C	10: 127,710,946 (GRCm39)	S188P	probably damaging	Het
Rrh	T	C	3: 129,616,040 (GRCm39)	Y31C	probably damaging	Het
Shh	A	G	5: 28,671,740 (GRCm39)	C8R	probably benign	Het
Spdye4b	C	A	5: 143,187,848 (GRCm39)	S167R	possibly damaging	Het
Strip1	T	C	3: 107,535,537 (GRCm39)	Y62C	possibly damaging	Het
Sucla2	A	T	14: 73,819,149 (GRCm39)	I232F	probably benign	Het
Sugp1	A	G	8: 70,522,174 (GRCm39)	D437G	possibly damaging	Het
Taf1a	A	G	1: 183,177,422 (GRCm39)		probably benign	Het
Tbc1d20	T	A	2: 152,153,283 (GRCm39)	M271K	probably damaging	Het
Tecpr2	T	C	12: 110,899,752 (GRCm39)	S707P	probably benign	Het
Tert	G	A	13: 73,796,104 (GRCm39)	R1017H	probably benign	Het
Tox	C	G	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Tpo	C	T	12: 30,153,968 (GRCm39)	A246T	probably benign	Het
Traf7	A	T	17: 24,730,613 (GRCm39)	V358D	probably damaging	Het
Trim56	C	T	5: 137,141,528 (GRCm39)	V663M	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usf3	C	T	16: 44,041,045 (GRCm39)	H1842Y	probably damaging	Het
Uvrag	T	C	7: 98,537,668 (GRCm39)	E509G	probably benign	Het
Vmn2r5	T	C	3: 64,411,392 (GRCm39)	D305G	possibly damaging	Het
Vmn2r52	T	C	7: 9,903,058 (GRCm39)	R457G	probably damaging	Het
Vti1a	A	C	19: 55,369,411 (GRCm39)	N101T	possibly damaging	Het
Zfp236	A	G	18: 82,686,762 (GRCm39)	F259L	probably benign	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	163,971,523 (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

Predicted Primers

PCR Primer
(F):5'- TGGGTATGACTGACCTCCATC -3'
(R):5'- ATCAAGCTGGTGTTCTAAACCATG -3'

Sequencing Primer
(F):5'- GGTATGACTGACCTCCATCGTGAC -3'
(R):5'- AGGTTGGCATGGCATCT -3'

Posted On

2014-12-04