Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Selplg'

30683

Institutional Source

Beutler Lab

Gene Symbol

Selplg

Ensembl Gene

ENSMUSG00000048163

Gene Name

selectin, platelet (p-selectin) ligand

Synonyms

Psgl-1, CD162, Psgl1

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113818536-113832644 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113820008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 79 (T79I)

Ref Sequence

ENSEMBL: ENSMUSP00000098436 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100874
AA Change: T79I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098436
Gene: ENSMUSG00000048163
AA Change: T79I

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,839,996	H78L	probably benign	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cuzd1	G	A	7: 131,311,908		probably benign	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Marf1	T	C	16: 14,151,320		probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr1240	G	T	2: 89,439,396	N294K	probably benign	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,899,823	V181F	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbc1d31	T	A	15: 57,955,350	L783H	probably benign	Het
Tbck	C	A	3: 132,751,232		probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	Het

Other mutations in Selplg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Selplg	APN	5	113819468	missense	probably damaging	1.00
IGL01488:Selplg	APN	5	113819636	missense	possibly damaging	0.78
IGL02355:Selplg	APN	5	113819406	missense	probably benign	0.00
IGL02362:Selplg	APN	5	113819406	missense	probably benign	0.00
PIT4142001:Selplg	UTSW	5	113819628	missense	probably benign	0.00
R1222:Selplg	UTSW	5	113819373	missense	possibly damaging	0.95
R1840:Selplg	UTSW	5	113819844	missense	possibly damaging	0.66
R2925:Selplg	UTSW	5	113820179	missense	possibly damaging	0.92
R4512:Selplg	UTSW	5	113819063	missense	probably benign	0.05
R4702:Selplg	UTSW	5	113819033	missense	probably benign	0.31
R4703:Selplg	UTSW	5	113819033	missense	probably benign	0.31
R4704:Selplg	UTSW	5	113819033	missense	probably benign	0.31
R4968:Selplg	UTSW	5	113819726	missense	possibly damaging	0.93
R5075:Selplg	UTSW	5	113819984	missense	probably benign	0.00
R6159:Selplg	UTSW	5	113819101	missense	probably benign	0.02
R6345:Selplg	UTSW	5	113820149	missense	probably benign	0.03
R6550:Selplg	UTSW	5	113820149	missense	probably benign	0.03
R6554:Selplg	UTSW	5	113820149	missense	probably benign	0.03
R6997:Selplg	UTSW	5	113819695	unclassified	probably benign
R7050:Selplg	UTSW	5	113819695	unclassified	probably benign
R7094:Selplg	UTSW	5	113819695	unclassified	probably benign
R7235:Selplg	UTSW	5	113819695	unclassified	probably benign
R7481:Selplg	UTSW	5	113819695	unclassified	probably benign
R7604:Selplg	UTSW	5	113819695	unclassified	probably benign
R7674:Selplg	UTSW	5	113819695	unclassified	probably benign
R7846:Selplg	UTSW	5	113819420	missense	probably damaging	1.00
R7887:Selplg	UTSW	5	113819695	unclassified	probably benign
R8051:Selplg	UTSW	5	113819441	missense	probably damaging	0.99
R8823:Selplg	UTSW	5	113819695	unclassified	probably benign
R8834:Selplg	UTSW	5	113819630	missense	possibly damaging	0.64
R8955:Selplg	UTSW	5	113819695	unclassified	probably benign
R9036:Selplg	UTSW	5	113819695	unclassified	probably benign
R9152:Selplg	UTSW	5	113819406	missense	probably benign	0.00
R9241:Selplg	UTSW	5	113819586	missense	possibly damaging	0.83
R9249:Selplg	UTSW	5	113819695	unclassified	probably benign
R9361:Selplg	UTSW	5	113819695	unclassified	probably benign
R9381:Selplg	UTSW	5	113819856	missense	probably benign	0.05
R9434:Selplg	UTSW	5	113819695	unclassified	probably benign
R9446:Selplg	UTSW	5	113819695	unclassified	probably benign
R9482:Selplg	UTSW	5	113819695	unclassified	probably benign
R9670:Selplg	UTSW	5	113819695	unclassified	probably benign
R9779:Selplg	UTSW	5	113819695	unclassified	probably benign
Z1177:Selplg	UTSW	5	113819351	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- AGGTCTCTACCTCTGTGGATGCTG -3'
(R):5'- GCAGGCTAAACCATATCTCTGCTCC -3'

Sequencing Primer
(F):5'- CTGGTTGGACGGTCTCTAC -3'
(R):5'- TGGCAACAGCCTTCAGC -3'

Posted On

2013-04-24