Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Selplg'

356282

Institutional Source

Beutler Lab

Gene Symbol

Selplg

Ensembl Gene

ENSMUSG00000048163

Gene Name

selectin, platelet (p-selectin) ligand

Synonyms

Psgl-1, CD162, Psgl1

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

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

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113956597-113970705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113957094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 404 (D404G)

Ref Sequence

ENSEMBL: ENSMUSP00000098436 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100874
AA Change: D404G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098436
Gene: ENSMUSG00000048163
AA Change: D404G

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

noncoding transcript
Transcript: ENSMUST00000198920

Predicted Effect

probably benign
Transcript: ENSMUST00000199109

Predicted Effect

probably benign
Transcript: ENSMUST00000201194

Predicted Effect

probably benign
Transcript: ENSMUST00000201931

Predicted Effect

probably benign
Transcript: ENSMUST00000202555

Meta Mutation Damage Score

0.0664

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	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
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
R9249:Selplg	UTSW	5	113,957,756 (GRCm39)	unclassified	probably benign
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'- ACGCAAGGACAGGTATCCAG -3'
(R):5'- TCTTCCTCGTGTGCACAGTG -3'

Sequencing Primer
(F):5'- ACAGGTATCCAGTGACCTGCAG -3'
(R):5'- CAGTGGTGCTGGCGGTC -3'

Posted On

2015-10-21