Mutagenetix > Incidental Mutation

Incidental Mutation 'R7846:Selplg'

606605

Institutional Source

Beutler Lab

Gene Symbol

Selplg

Ensembl Gene

ENSMUSG00000048163

Gene Name

selectin, platelet (p-selectin) ligand

Synonyms

Psgl-1, CD162, Psgl1

MMRRC Submission

045900-MU

Accession Numbers

Essential gene?

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

Stock #

R7846 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113956597-113970705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113957481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 275 (T275M)

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: T275M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098436
Gene: ENSMUSG00000048163
AA Change: T275M

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: ENSMUST00000202555

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	A	G	5: 100,954,698 (GRCm39)	V247A	probably damaging	Het
Acot13	G	T	13: 25,002,133 (GRCm39)	T103K	probably damaging	Het
Acsl6	A	T	11: 54,251,901 (GRCm39)	I683F	probably damaging	Het
Acss2	A	T	2: 155,402,953 (GRCm39)	H577L	probably damaging	Het
Ahctf1	A	T	1: 179,614,638 (GRCm39)	V382D	probably damaging	Het
Aldob	T	C	4: 49,538,858 (GRCm39)	H220R	probably damaging	Het
Ankrd1	C	T	19: 36,094,218 (GRCm39)	V169M	probably damaging	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Cep76	A	G	18: 67,762,975 (GRCm39)	F283L	probably damaging	Het
Chrna5	A	T	9: 54,912,391 (GRCm39)	D397V	probably benign	Het
Coro7	T	C	16: 4,488,400 (GRCm39)	D90G	probably damaging	Het
Csnk1g3	A	G	18: 54,081,177 (GRCm39)	N383D	probably benign	Het
Cwf19l2	C	A	9: 3,477,889 (GRCm39)	Q865K	probably damaging	Het
Cyth2	C	A	7: 45,460,378 (GRCm39)	W149C	probably damaging	Het
Dgkh	C	A	14: 78,856,026 (GRCm39)	R349L	probably damaging	Het
Dnajc1	G	T	2: 18,224,704 (GRCm39)	T383N	possibly damaging	Het
Efcab3	T	A	11: 104,605,571 (GRCm39)		probably null	Het
Extl3	A	T	14: 65,313,181 (GRCm39)	M667K	probably damaging	Het
Fam149a	G	T	8: 45,811,678 (GRCm39)	A75E		Het
Fgd4	T	G	16: 16,240,590 (GRCm39)	Q713P	probably damaging	Het
Frat2	T	A	19: 41,836,215 (GRCm39)	I46F	probably damaging	Het
Gzmc	A	G	14: 56,469,017 (GRCm39)	V234A	probably damaging	Het
H2-Q4	A	G	17: 35,599,134 (GRCm39)	N135D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,937 (GRCm39)	V21D	possibly damaging	Het
Itprid1	A	G	6: 55,955,320 (GRCm39)	Q976R	possibly damaging	Het
Kcna6	A	T	6: 126,715,983 (GRCm39)	V302E	probably damaging	Het
Kdm3b	G	T	18: 34,942,293 (GRCm39)	V795L	possibly damaging	Het
Kdm5b	G	A	1: 134,545,578 (GRCm39)	R913H	probably damaging	Het
Lpp	T	A	16: 24,426,876 (GRCm39)	M1K	probably null	Het
Med12l	T	C	3: 59,172,355 (GRCm39)	S1704P	probably damaging	Het
Mfsd10	G	T	5: 34,793,456 (GRCm39)	S95*	probably null	Het
Napepld	C	T	5: 21,880,721 (GRCm39)	E225K	probably benign	Het
Ndfip2	T	C	14: 105,535,448 (GRCm39)	F245L	probably damaging	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or10k2	A	G	8: 84,268,526 (GRCm39)	H251R	probably damaging	Het
Or13a20	C	T	7: 140,232,374 (GRCm39)	H161Y	probably damaging	Het
Or51i1	A	G	7: 103,670,736 (GRCm39)	I263T	possibly damaging	Het
Or52z15	A	G	7: 103,332,407 (GRCm39)	I161V	probably benign	Het
Or5p6	A	G	7: 107,631,199 (GRCm39)	I117T	probably benign	Het
Or8b47	A	G	9: 38,435,675 (GRCm39)	T216A	probably benign	Het
Pcdhgb2	A	T	18: 37,825,273 (GRCm39)	I755F	possibly damaging	Het
Pde4dip	A	G	3: 97,622,490 (GRCm39)	L1573P	probably damaging	Het
Peg3	A	T	7: 6,713,650 (GRCm39)	V524E	probably damaging	Het
Phc1	G	T	6: 122,310,329 (GRCm39)	T126N	probably damaging	Het
Phf1	C	A	17: 27,154,291 (GRCm39)	Y169*	probably null	Het
Pramel25	A	T	4: 143,520,563 (GRCm39)	D269V	probably benign	Het
Prl3a1	G	A	13: 27,456,442 (GRCm39)	E99K	probably damaging	Het
Prss57	G	A	10: 79,623,213 (GRCm39)	A78V	probably damaging	Het
Ptprb	A	T	10: 116,119,453 (GRCm39)	T196S	probably benign	Het
Rgsl1	A	T	1: 153,701,783 (GRCm39)	C224S	possibly damaging	Het
Rtn4	T	C	11: 29,643,274 (GRCm39)	V29A	unknown	Het
Skint11	C	T	4: 114,102,076 (GRCm39)	T363I	possibly damaging	Het
Slc22a29	T	A	19: 8,170,851 (GRCm39)	I289F	probably benign	Het
Slc26a2	A	G	18: 61,331,776 (GRCm39)	S552P	probably benign	Het
Sptb	T	A	12: 76,655,300 (GRCm39)	K1480*	probably null	Het
Sptbn1	C	A	11: 30,092,153 (GRCm39)	M537I	probably damaging	Het
Sqor	A	T	2: 122,627,008 (GRCm39)	H43L	probably benign	Het
Srcin1	C	A	11: 97,416,926 (GRCm39)	E913*	probably null	Het
Srgap1	A	G	10: 121,621,397 (GRCm39)	L1032P	probably damaging	Het
Stc2	T	C	11: 31,315,413 (GRCm39)	K142R	probably benign	Het
Stox1	A	C	10: 62,495,305 (GRCm39)	N989K	probably damaging	Het
Tert	T	A	13: 73,776,314 (GRCm39)	L355H	probably damaging	Het
Tfb2m	A	G	1: 179,358,926 (GRCm39)	F319S	probably damaging	Het
Trps1	A	G	15: 50,695,273 (GRCm39)	F341L	probably damaging	Het
Ttk	T	C	9: 83,725,732 (GRCm39)	V218A	probably benign	Het
Vmn1r159	A	G	7: 22,542,696 (GRCm39)	I112T	probably benign	Het
Vps8	C	A	16: 21,351,070 (GRCm39)	Q916K	probably benign	Het
Wdr12	A	T	1: 60,121,225 (GRCm39)	D364E	probably damaging	Het
Ylpm1	A	G	12: 85,104,042 (GRCm39)	E2019G	probably damaging	Het
Zfp267	C	A	3: 36,219,738 (GRCm39)	T587N	probably benign	Het
Zfp507	A	G	7: 35,493,963 (GRCm39)	L360P	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
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'- CTGTGCACACGAGGAAGATG -3'
(R):5'- AGTAGAGACCGTCCAACCAG -3'

Sequencing Primer
(F):5'- AGCCAAGATGAGGATAATCAGC -3'
(R):5'- TAGAGACCTCGCAGCCAG -3'

Posted On

2019-12-20