Mutagenetix > Incidental Mutation

Incidental Mutation 'R7677:Selp'

592481

Institutional Source

Beutler Lab

Gene Symbol

Selp

Ensembl Gene

ENSMUSG00000026580

Gene Name

selectin, platelet

Synonyms

P-selectin, Grmp, CD62P

Accession Numbers

Essential gene?

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

Stock #

R7677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163942833-163977595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 163961525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 413 (S413C)

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

probably damaging
Transcript: ENSMUST00000162746
AA Change: S413C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123924
Gene: ENSMUSG00000026580
AA Change: S413C

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,349 (GRCm39)	R2699*	probably null	Het
Adra2a	G	A	19: 54,035,375 (GRCm39)	V244M	probably damaging	Het
Apba2	A	G	7: 64,344,845 (GRCm39)	S12G	probably benign	Het
Arhgap20	T	A	9: 51,751,698 (GRCm39)	M383K	probably damaging	Het
Armc12	T	C	17: 28,756,865 (GRCm39)	V210A	probably benign	Het
Ash1l	A	T	3: 88,950,500 (GRCm39)	H2131L	probably damaging	Het
Atg5	T	C	10: 44,223,035 (GRCm39)	L219P	probably damaging	Het
Atp2c2	A	T	8: 120,474,915 (GRCm39)	M507L	probably benign	Het
Atr	T	A	9: 95,767,515 (GRCm39)	L1191I	probably damaging	Het
B4galt5	T	C	2: 167,146,998 (GRCm39)	T279A	probably damaging	Het
Bglap2	T	C	3: 88,285,280 (GRCm39)	E62G	probably damaging	Het
Card6	A	G	15: 5,127,926 (GRCm39)	S1157P	unknown	Het
Ccdc17	T	C	4: 116,454,962 (GRCm39)		probably null	Het
Cdc6	T	A	11: 98,810,191 (GRCm39)	L500*	probably null	Het
Dst	G	T	1: 34,208,403 (GRCm39)		probably null	Het
Fbxw7	C	T	3: 84,811,373 (GRCm39)	T166I		Het
Fer1l6	T	C	15: 58,474,139 (GRCm39)	V955A	probably benign	Het
Fezf2	T	C	14: 12,344,941 (GRCm38)	E82G	probably benign	Het
Flii	T	C	11: 60,610,971 (GRCm39)	D486G	probably damaging	Het
Fndc3a	T	C	14: 72,804,854 (GRCm39)	T476A	probably benign	Het
Gbp3	C	T	3: 142,266,264 (GRCm39)		probably benign	Het
Hebp2	T	C	10: 18,421,547 (GRCm39)		probably benign	Het
Hhipl2	T	A	1: 183,204,951 (GRCm39)	M88K	possibly damaging	Het
Hip1	A	G	5: 135,459,171 (GRCm39)	C605R	probably benign	Het
Hoxd13	T	C	2: 74,498,909 (GRCm39)	S86P	probably benign	Het
Hspa12a	G	T	19: 58,849,317 (GRCm39)	A2E	probably benign	Het
Il1rl1	A	C	1: 40,485,864 (GRCm39)	*338C	probably null	Het
Lrrc37a	G	T	11: 103,390,464 (GRCm39)	P1654T	probably benign	Het
Mybpc3	A	T	2: 90,959,376 (GRCm39)	D704V	probably benign	Het
Napsa	A	T	7: 44,231,130 (GRCm39)	K120*	probably null	Het
Nat3	A	C	8: 68,000,139 (GRCm39)	Y6S	probably damaging	Het
Negr1	C	T	3: 156,774,823 (GRCm39)	Q180*	probably null	Het
Nynrin	T	A	14: 56,107,693 (GRCm39)	D933E	probably benign	Het
Or10al3	T	A	17: 38,011,957 (GRCm39)	I132K	probably damaging	Het
Or10c1	A	T	17: 37,522,386 (GRCm39)	Y119*	probably null	Het
Or2l5	G	A	16: 19,333,678 (GRCm39)	A236V	probably benign	Het
Or6k2	A	T	1: 173,986,614 (GRCm39)	I92F	probably damaging	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Or8c16	T	A	9: 38,130,324 (GRCm39)	N65K	probably damaging	Het
Or9s23	C	T	1: 92,500,983 (GRCm39)	T30I	not run	Het
Pbx1	A	T	1: 168,030,995 (GRCm39)	F208I	probably damaging	Het
Pcdha11	T	C	18: 37,144,605 (GRCm39)	V232A	probably damaging	Het
Pcsk5	A	G	19: 17,558,593 (GRCm39)	Y605H	possibly damaging	Het
Pde3a	T	A	6: 141,195,983 (GRCm39)	L223Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm2	G	A	5: 124,261,632 (GRCm39)	R977C	probably damaging	Het
Pkdrej	A	C	15: 85,699,788 (GRCm39)	D2049E	probably benign	Het
Psmd6	T	C	14: 14,120,837 (GRCm38)	D16G	probably benign	Het
Pth2r	C	A	1: 65,427,605 (GRCm39)	T426N	probably benign	Het
Ralgapa1	G	T	12: 55,705,928 (GRCm39)	L1865M	probably damaging	Het
Ryr3	T	A	2: 112,664,245 (GRCm39)	Q1702L	probably benign	Het
Sars2	A	G	7: 28,446,176 (GRCm39)	Y135C	probably benign	Het
Sdha	G	A	13: 74,481,172 (GRCm39)	R345*	probably null	Het
Sirt2	G	A	7: 28,484,835 (GRCm39)	C221Y	probably damaging	Het
Skic2	A	T	17: 35,067,140 (GRCm39)	S100T	probably benign	Het
Socs7	C	A	11: 97,280,468 (GRCm39)	Q566K	probably benign	Het
Spdye4c	G	A	2: 128,436,056 (GRCm39)	V151M	probably benign	Het
Srcap	A	G	7: 127,158,980 (GRCm39)	D2952G	unknown	Het
Srd5a2	A	T	17: 74,354,749 (GRCm39)	L25Q	probably damaging	Het
Srrt	A	T	5: 137,298,410 (GRCm39)	V254D	probably damaging	Het
Tap2	T	C	17: 34,424,494 (GRCm39)	F76L	probably benign	Het
Tdpoz4	T	A	3: 93,704,815 (GRCm39)	*371R	probably null	Het
Tm9sf3	A	T	19: 41,209,743 (GRCm39)	F441I	probably damaging	Het
Tmem259	C	T	10: 79,814,414 (GRCm39)	R314Q	probably damaging	Het
Trim28	G	T	7: 12,762,040 (GRCm39)	R312L	possibly damaging	Het
Tsc1	A	G	2: 28,562,829 (GRCm39)	T393A	probably benign	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube2v2	T	C	16: 15,398,964 (GRCm39)	T42A	probably benign	Het
Vmn2r-ps158	A	C	7: 42,674,163 (GRCm39)	H414P	probably damaging	Het
Zfp609	A	T	9: 65,604,456 (GRCm39)	S1342R	possibly damaging	Het
Zg16	A	T	7: 126,649,763 (GRCm39)	V66E	probably damaging	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
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
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

PCR Primer
(F):5'- GGACTTCCAAGTTAAACAAGCC -3'
(R):5'- ATCCAGTTACCACCTCAGATATAGC -3'

Sequencing Primer
(F):5'- GATGATCATTGAACCGAGTCATCC -3'
(R):5'- TACCACCTCAGATATAGCCTTTAAG -3'

Posted On

2019-11-12