Mutagenetix > Incidental Mutation

Incidental Mutation 'R8870:Selp'

676175

Institutional Source

Beutler Lab

Gene Symbol

Selp

Ensembl Gene

ENSMUSG00000026580

Gene Name

selectin, platelet

Synonyms

P-selectin, Grmp, CD62P

MMRRC Submission

068684-MU

Accession Numbers

Essential gene?

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

Stock #

R8870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163942833-163977595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163964787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 483 (Y483C)

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: ENSMUST00000161152

Predicted Effect

probably damaging
Transcript: ENSMUST00000162746
AA Change: Y483C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: Y483C

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,840 (GRCm39)	N1082Y	possibly damaging	Het
4930444P10Rik	G	A	1: 16,136,451 (GRCm39)	Q122*	probably null	Het
Afg2a	A	G	3: 37,502,661 (GRCm39)	N607D	probably benign	Het
Ak8	C	T	2: 28,625,602 (GRCm39)	T215M	probably benign	Het
Ano3	T	A	2: 110,614,074 (GRCm39)	I210F	probably benign	Het
Atg9b	A	G	5: 24,592,032 (GRCm39)	F656L	probably damaging	Het
Bscl2	T	C	19: 8,824,793 (GRCm39)	M292T	probably benign	Het
Cachd1	G	T	4: 100,754,978 (GRCm39)	C143F	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccnb1ip1	C	T	14: 51,029,450 (GRCm39)	G204E	probably benign	Het
Ccr1	T	A	9: 123,764,022 (GRCm39)	L169F	probably benign	Het
Cdc42bpg	A	G	19: 6,364,550 (GRCm39)	N593D	possibly damaging	Het
Cdh20	T	C	1: 104,873,048 (GRCm39)	S265P	probably damaging	Het
Cenpk	A	G	13: 104,367,365 (GRCm39)	E67G	probably damaging	Het
Cep76	A	T	18: 67,773,190 (GRCm39)	I36K	probably benign	Het
Clock	A	T	5: 76,383,632 (GRCm39)	I507N	probably benign	Het
Cpne1	T	C	2: 155,920,873 (GRCm39)	T110A	probably benign	Het
Crybg2	A	T	4: 133,818,525 (GRCm39)	E1427V	possibly damaging	Het
Ctu1	A	C	7: 43,324,746 (GRCm39)	K62Q	probably damaging	Het
Dnai4	C	T	4: 102,944,529 (GRCm39)		probably null	Het
Drd5	C	A	5: 38,477,747 (GRCm39)	Q247K	possibly damaging	Het
Ect2l	A	T	10: 18,014,608 (GRCm39)	L808*	probably null	Het
Efcab3	A	G	11: 104,791,500 (GRCm39)	T2905A	probably benign	Het
Ficd	A	T	5: 113,876,248 (GRCm39)	D141V	probably damaging	Het
Fnbp1	A	G	2: 30,938,222 (GRCm39)	Y148H		Het
Gm49368	A	G	7: 127,700,685 (GRCm39)	K485R	probably benign	Het
Gpr75	C	A	11: 30,841,860 (GRCm39)	A255D	probably benign	Het
Hcrtr2	G	T	9: 76,153,666 (GRCm39)	A242D	probably damaging	Het
Iapp	G	T	6: 142,244,602 (GRCm39)	V10F	probably benign	Het
Ikzf2	A	G	1: 69,722,417 (GRCm39)	S31P	possibly damaging	Het
Il18rap	G	A	1: 40,564,280 (GRCm39)		probably benign	Het
Irak2	A	T	6: 113,663,902 (GRCm39)	N423Y	probably damaging	Het
Itpkb	A	G	1: 180,159,744 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,365,172 (GRCm39)	I874M	probably damaging	Het
Kif26b	G	T	1: 178,692,594 (GRCm39)	V512F	probably damaging	Het
Lhx6	G	A	2: 35,995,232 (GRCm39)		probably benign	Het
Lrfn1	A	G	7: 28,158,918 (GRCm39)	E279G	possibly damaging	Het
Masp1	A	C	16: 23,314,882 (GRCm39)	D126E	probably damaging	Het
Mef2a	T	C	7: 66,890,176 (GRCm39)	I299V	probably benign	Het
Midn	A	G	10: 79,985,939 (GRCm39)	S10G	probably damaging	Het
Mrps12	A	T	7: 28,439,361 (GRCm39)	L118Q	probably damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Ncoa6	A	G	2: 155,263,078 (GRCm39)	V452A	probably damaging	Het
Neb	A	G	2: 52,051,481 (GRCm39)	Y6600H	probably damaging	Het
Nlgn2	A	G	11: 69,716,297 (GRCm39)	L748P	possibly damaging	Het
Nnmt	A	T	9: 48,514,801 (GRCm39)	L72H	probably damaging	Het
Nrxn3	A	G	12: 90,171,560 (GRCm39)	T964A	probably benign	Het
Or12k7	A	G	2: 36,958,982 (GRCm39)	I222V	probably benign	Het
Or1e35	T	G	11: 73,797,725 (GRCm39)	M198L	probably benign	Het
Or2y16	T	A	11: 49,335,350 (GRCm39)	V224E	probably damaging	Het
Or4k35	T	A	2: 111,100,464 (GRCm39)	I83F	possibly damaging	Het
Or5h27	G	A	16: 59,006,130 (GRCm39)	P239S	unknown	Het
Or8c11	A	G	9: 38,289,720 (GRCm39)	N175S	probably benign	Het
Or8g33	A	G	9: 39,337,548 (GRCm39)	V273A	probably damaging	Het
Osbpl11	A	G	16: 33,034,850 (GRCm39)	N280D	probably benign	Het
Peg10	A	T	6: 4,754,825 (GRCm39)	Y202F	probably damaging	Het
Pick1	A	G	15: 79,140,107 (GRCm39)	R469G	unknown	Het
Rev3l	A	G	10: 39,738,786 (GRCm39)	I2847V	probably damaging	Het
Rmc1	A	G	18: 12,321,618 (GRCm39)	E473G	probably benign	Het
Rnaseh2b	T	A	14: 62,569,617 (GRCm39)	L18Q	probably damaging	Het
Rpl19	A	G	11: 97,920,615 (GRCm39)	Y122C	probably benign	Het
Setd2	T	A	9: 110,423,321 (GRCm39)	F347L		Het
Snx14	A	G	9: 88,295,541 (GRCm39)	I208T	probably benign	Het
Spag16	T	A	1: 70,036,017 (GRCm39)	F348L	probably benign	Het
Spata22	A	T	11: 73,231,091 (GRCm39)	N115I	probably damaging	Het
Spata31	T	C	13: 65,068,818 (GRCm39)	V322A	probably benign	Het
Stc1	A	T	14: 69,275,825 (GRCm39)	H206L	probably benign	Het
Tas2r129	A	G	6: 132,928,522 (GRCm39)	D153G	probably damaging	Het
Tmem196	T	A	12: 119,982,268 (GRCm39)	N167K	possibly damaging	Het
Tmpo	T	C	10: 90,987,581 (GRCm39)	T356A	probably damaging	Het
Tnks	A	G	8: 35,314,433 (GRCm39)		probably null	Het
Ttbk1	A	C	17: 46,781,661 (GRCm39)	L364R	probably damaging	Het
Vmn1r176	A	T	7: 23,534,480 (GRCm39)	N224K	probably damaging	Het
Vmn1r36	T	A	6: 66,693,720 (GRCm39)	M52L	probably benign	Het
Vmn2r93	A	T	17: 18,525,320 (GRCm39)	H326L	possibly damaging	Het
Wrn	A	T	8: 33,819,220 (GRCm39)	M244K	probably benign	Het
Zcchc24	C	T	14: 25,757,578 (GRCm39)	A102T	probably benign	Het
Zfp1010	T	A	2: 176,957,312 (GRCm39)	Q62L	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	163,971,524 (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
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'- TGACCACCTTTAGCTAAATGTAGAG -3'
(R):5'- TGGTCTAGATCCTCACACCTG -3'

Sequencing Primer
(F):5'- AGCAGTCACACAGGGGC -3'
(R):5'- CTCACACCTGTTGTTTACATATGAG -3'

Posted On

2021-07-15