Mutagenetix > Incidental Mutation

Incidental Mutation 'R9249:Selplg'

701418

Institutional Source

Beutler Lab

Gene Symbol

Selplg

Ensembl Gene

ENSMUSG00000048163

Gene Name

selectin, platelet (p-selectin) ligand

Synonyms

Psgl-1, CD162, Psgl1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9249 (G1)

Quality Score

183.458

Status

Not validated

Chromosome

Chromosomal Location

113956597-113970705 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT to GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT at 113957756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100874] [ENSMUST00000199109]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100874

SMART Domains

Protein: ENSMUSP00000098436
Gene: ENSMUSG00000048163

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
internal_repeat_2	130	182	2.38e-13	PROSPERO
internal_repeat_1	133	186	5.75e-16	PROSPERO
internal_repeat_1	193	246	5.75e-16	PROSPERO
internal_repeat_2	200	252	2.38e-13	PROSPERO
transmembrane domain	328	350	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199109

Predicted Effect

probably benign
Transcript: ENSMUST00000201194

Predicted Effect

probably benign
Transcript: ENSMUST00000201931

Predicted Effect

probably benign
Transcript: ENSMUST00000202555

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neutrophillia and impaired leukocyte adhesion and rolling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,220,165 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,733,690 (GRCm39)	F1650S	probably damaging	Het
Bscl2	A	T	19: 8,820,378 (GRCm39)	D133V	probably damaging	Het
Cacna1c	T	C	6: 118,590,288 (GRCm39)	Y1564C		Het
Ccdc182	T	C	11: 88,185,178 (GRCm39)	V86A	probably benign	Het
Cd44	T	G	2: 102,661,747 (GRCm39)	T616P	possibly damaging	Het
Cep152	C	T	2: 125,405,904 (GRCm39)	E1543K	probably benign	Het
Chpf2	C	A	5: 24,794,235 (GRCm39)	T135K	probably damaging	Het
Cntn4	C	T	6: 106,466,722 (GRCm39)	P208L	possibly damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Csmd2	C	A	4: 128,313,323 (GRCm39)	Y1333*	probably null	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dbndd2	T	C	2: 164,328,077 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,869,427 (GRCm39)	K280R	probably damaging	Het
Egfl8	C	A	17: 34,833,491 (GRCm39)	A133S	probably benign	Het
Fasn	T	C	11: 120,703,915 (GRCm39)	H1475R	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gzmd	T	G	14: 56,368,790 (GRCm39)	M35L	probably damaging	Het
Herc2	T	A	7: 55,762,890 (GRCm39)	L873Q	probably damaging	Het
Hsd3b6	T	C	3: 98,713,679 (GRCm39)	K207E	probably benign	Het
Ikbkb	T	A	8: 23,171,735 (GRCm39)	K171*	probably null	Het
Il21	T	A	3: 37,279,677 (GRCm39)		probably null	Het
Itga1	T	C	13: 115,185,834 (GRCm39)	N56S	probably damaging	Het
Map1lc3b	T	C	8: 122,322,833 (GRCm39)		probably null	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Myh3	C	T	11: 66,975,855 (GRCm39)	P296S	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	C	18: 44,479,265 (GRCm39)	V334A	probably benign	Het
Ncor2	T	C	5: 125,186,988 (GRCm39)	E12G	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nvl	A	G	1: 180,962,593 (GRCm39)	Y126H	probably damaging	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or5w1	A	T	2: 87,486,660 (GRCm39)	F202I	probably benign	Het
Or8g29-ps1	T	A	9: 39,200,602 (GRCm39)	N195Y	unknown	Het
Or8g36	A	T	9: 39,422,149 (GRCm39)	I289N	probably damaging	Het
Osbpl8	T	A	10: 111,122,012 (GRCm39)	D651E	probably benign	Het
Papola	T	A	12: 105,799,403 (GRCm39)	H677Q	probably benign	Het
Pcbp3	T	C	10: 76,635,377 (GRCm39)	S59G	probably benign	Het
Pkd1l2	T	A	8: 117,746,159 (GRCm39)	I1944F	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,143,084 (GRCm39)	N37K	probably benign	Het
Ppfia2	T	C	10: 106,749,429 (GRCm39)	V1105A	probably damaging	Het
Ric3	C	T	7: 108,647,212 (GRCm39)	D204N	probably damaging	Het
Scn8a	A	G	15: 100,914,456 (GRCm39)	D1154G	probably benign	Het
Sdk1	C	A	5: 142,129,550 (GRCm39)	N1590K	probably damaging	Het
Sec31a	C	A	5: 100,533,083 (GRCm39)	R163L	probably damaging	Het
Serpina3i	C	T	12: 104,231,728 (GRCm39)	Q122*	probably null	Het
Sgo2b	A	C	8: 64,391,407 (GRCm39)	Y153*	probably null	Het
Sgsm1	T	A	5: 113,428,201 (GRCm39)	H329L	possibly damaging	Het
Sh3tc2	A	C	18: 62,107,598 (GRCm39)	N203T	possibly damaging	Het
Skint8	C	A	4: 111,794,159 (GRCm39)	T183K	probably damaging	Het
Slc6a20a	T	C	9: 123,507,941 (GRCm39)		probably benign	Het
Slc8a2	T	C	7: 15,891,156 (GRCm39)	F732S	probably damaging	Het
Spata16	T	C	3: 26,787,030 (GRCm39)	V236A	possibly damaging	Het
Stard5	A	G	7: 83,281,253 (GRCm39)	D2G	probably damaging	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Tspan10	T	C	11: 120,337,051 (GRCm39)	F274L	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Vmn1r6	A	G	6: 56,979,760 (GRCm39)	R141G	probably benign	Het
Wdfy3	A	G	5: 101,996,359 (GRCm39)	S3168P	possibly damaging	Het
Zfp458	T	A	13: 67,405,218 (GRCm39)	H407L	probably damaging	Het

Other mutations in Selplg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Selplg	APN	5	113,957,529 (GRCm39)	missense	probably damaging	1.00
IGL01488:Selplg	APN	5	113,957,697 (GRCm39)	missense	possibly damaging	0.78
IGL02355:Selplg	APN	5	113,957,467 (GRCm39)	missense	probably benign	0.00
IGL02362:Selplg	APN	5	113,957,467 (GRCm39)	missense	probably benign	0.00
PIT4142001:Selplg	UTSW	5	113,957,689 (GRCm39)	missense	probably benign	0.00
R0375:Selplg	UTSW	5	113,958,069 (GRCm39)	missense	probably damaging	0.99
R1222:Selplg	UTSW	5	113,957,434 (GRCm39)	missense	possibly damaging	0.95
R1840:Selplg	UTSW	5	113,957,905 (GRCm39)	missense	possibly damaging	0.66
R2925:Selplg	UTSW	5	113,958,240 (GRCm39)	missense	possibly damaging	0.92
R4512:Selplg	UTSW	5	113,957,124 (GRCm39)	missense	probably benign	0.05
R4702:Selplg	UTSW	5	113,957,094 (GRCm39)	missense	probably benign	0.31
R4703:Selplg	UTSW	5	113,957,094 (GRCm39)	missense	probably benign	0.31
R4704:Selplg	UTSW	5	113,957,094 (GRCm39)	missense	probably benign	0.31
R4968:Selplg	UTSW	5	113,957,787 (GRCm39)	missense	possibly damaging	0.93
R5075:Selplg	UTSW	5	113,958,045 (GRCm39)	missense	probably benign	0.00
R6159:Selplg	UTSW	5	113,957,162 (GRCm39)	missense	probably benign	0.02
R6345:Selplg	UTSW	5	113,958,210 (GRCm39)	missense	probably benign	0.03
R6550:Selplg	UTSW	5	113,958,210 (GRCm39)	missense	probably benign	0.03
R6554:Selplg	UTSW	5	113,958,210 (GRCm39)	missense	probably benign	0.03
R6997:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R7050:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R7094:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R7235:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R7481:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R7604:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R7674:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R7846:Selplg	UTSW	5	113,957,481 (GRCm39)	missense	probably damaging	1.00
R7887:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R8051:Selplg	UTSW	5	113,957,502 (GRCm39)	missense	probably damaging	0.99
R8823:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R8834:Selplg	UTSW	5	113,957,691 (GRCm39)	missense	possibly damaging	0.64
R8955:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R9036:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R9152:Selplg	UTSW	5	113,957,467 (GRCm39)	missense	probably benign	0.00
R9241:Selplg	UTSW	5	113,957,647 (GRCm39)	missense	possibly damaging	0.83
R9361:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R9381:Selplg	UTSW	5	113,957,917 (GRCm39)	missense	probably benign	0.05
R9434:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R9446:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R9482:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R9670:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
R9779:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
Z1177:Selplg	UTSW	5	113,957,412 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GCTGCAGACGTTGTAAACAGAG -3'
(R):5'- GTGGAGTCTAACCTCAGTAGAGAC -3'

Sequencing Primer
(F):5'- TTTACAGCCTGAATCCTGGGAAGC -3'
(R):5'- GTCTAACCTCAGTAGAGACCGTCC -3'

Posted On

2022-03-25