Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Selp'

501741

Institutional Source

Beutler Lab

Gene Symbol

Selp

Ensembl Gene

ENSMUSG00000026580

Gene Name

selectin, platelet

Synonyms

P-selectin, Grmp, CD62P

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

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

Stock #

R6035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163942833-163977595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163969079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 560 (W560R)

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: ENSMUST00000160000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161020

Predicted Effect

probably benign
Transcript: ENSMUST00000161152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161943

Predicted Effect

probably benign
Transcript: ENSMUST00000162746
AA Change: W560R

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: W560R

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: 99.8%
3x: 98.9%
10x: 91.8%
20x: 70.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,615,353 (GRCm39)	G76W	probably damaging	Het
Abca17	A	T	17: 24,500,219 (GRCm39)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,862,686 (GRCm39)		probably null	Het
Abcc12	A	G	8: 87,244,033 (GRCm39)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,818,788 (GRCm39)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,122,377 (GRCm39)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,412,292 (GRCm39)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,968,721 (GRCm39)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,621,424 (GRCm39)	Y392*	probably null	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 106,419,195 (GRCm39)	W749L	probably benign	Het
Ccar1	A	G	10: 62,587,564 (GRCm39)	Y867H	unknown	Het
Cdh13	A	G	8: 119,232,437 (GRCm39)	D47G	probably benign	Het
Chst9	T	A	18: 15,585,910 (GRCm39)	T218S	probably benign	Het
Clec2i	G	A	6: 128,870,587 (GRCm39)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,667,028 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,519,030 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,674,929 (GRCm39)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,909,013 (GRCm39)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,681,781 (GRCm39)	M307V	probably benign	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,476,423 (GRCm39)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,427,985 (GRCm39)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,240,335 (GRCm39)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,423,385 (GRCm39)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,791,605 (GRCm39)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,338,450 (GRCm39)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,741,746 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm39)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,658,449 (GRCm39)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,206,306 (GRCm39)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 89,018,962 (GRCm39)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Il5ra	G	A	6: 106,718,226 (GRCm39)	T76I	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnh6	G	A	11: 105,909,978 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,224,415 (GRCm39)	E368K	probably benign	Het
Lhx9	T	C	1: 138,766,281 (GRCm39)	D169G	possibly damaging	Het
Lmod3	A	G	6: 97,224,234 (GRCm39)	L529P	probably damaging	Het
Mroh2a	G	A	1: 88,158,390 (GRCm39)	V146M	probably damaging	Het
Nup155	A	G	15: 8,173,577 (GRCm39)	T891A	probably benign	Het
Or11g24	A	G	14: 50,661,984 (GRCm39)	T3A	probably benign	Het
Or1e1	T	C	11: 73,244,582 (GRCm39)	M1T	probably null	Het
Or1j13	T	A	2: 36,369,996 (GRCm39)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,285 (GRCm39)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	C	12: 83,821,454 (GRCm39)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,423,435 (GRCm39)	V160I	probably benign	Het
Pde8b	A	G	13: 95,164,105 (GRCm39)		probably benign	Het
Ppme1	G	A	7: 100,004,002 (GRCm39)	R68*	probably null	Het
Ptprn2	A	T	12: 117,219,215 (GRCm39)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,617,468 (GRCm39)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 115,954,666 (GRCm39)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,545,387 (GRCm39)	D420V	probably damaging	Het
Ros1	G	T	10: 51,954,067 (GRCm39)	S1857R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,311,316 (GRCm39)	E682G	probably benign	Het
Samd4	G	A	14: 47,325,329 (GRCm39)	R515H	probably damaging	Het
Shc3	A	T	13: 51,615,468 (GRCm39)	L163Q	probably damaging	Het
Shh	G	A	5: 28,666,397 (GRCm39)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,427,937 (GRCm39)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,206,168 (GRCm39)		probably benign	Het
Smarcd2	A	G	11: 106,157,715 (GRCm39)		probably null	Het
Sytl3	A	G	17: 6,995,664 (GRCm39)	D148G	probably damaging	Het
Tnks	G	T	8: 35,385,615 (GRCm39)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,179,568 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,806,161 (GRCm39)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,287,541 (GRCm39)	I209V	probably benign	Het
Usp1	A	G	4: 98,818,082 (GRCm39)	N140S	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,094,534 (GRCm39)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,990,202 (GRCm39)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 12,818,854 (GRCm39)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,337,350 (GRCm39)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,916,830 (GRCm39)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,757,005 (GRCm39)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,621,463 (GRCm39)	N901K	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
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

Posted On

2017-12-01