Mutagenetix > Incidental Mutation

Incidental Mutation 'R7267:Cd86'

565032

Institutional Source

Beutler Lab

Gene Symbol

Cd86

Ensembl Gene

ENSMUSG00000022901

Gene Name

CD86 antigen

Synonyms

MB7-2, Ly-58, Cd28l2, Ly58, B70, B7.2, B7-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R7267 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

36424231-36486443 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CA to CAA at 36426917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089620]

AlphaFold

P42082

Predicted Effect

probably null
Transcript: ENSMUST00000089620

SMART Domains

Protein: ENSMUSP00000087047
Gene: ENSMUSG00000022901

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IGv	35	112	1.76e-8	SMART
low complexity region	194	205	N/A	INTRINSIC
transmembrane domain	246	263	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]
PHENOTYPE: Homozygous null mice on an NOD background display a phenotype similar to human Guillain-Barre Syndrome, exhibiting severe peripheral nervous system inflammation, sciatic nerve demyelination, elevated auto-antibodies to myelin protein zero, hindlimb paralysis, and weak forelimb grip. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,916,205 (GRCm39)	I37T	probably damaging	Het
Ackr2	A	G	9: 121,737,874 (GRCm39)	Y83C	probably damaging	Het
Adam19	C	T	11: 46,012,403 (GRCm39)	Q300*	probably null	Het
Anxa7	C	T	14: 20,519,474 (GRCm39)	A115T	probably benign	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Atad2b	A	T	12: 5,077,105 (GRCm39)	R1109*	probably null	Het
Batf2	A	G	19: 6,221,396 (GRCm39)	T69A	probably benign	Het
Best1	A	G	19: 9,964,177 (GRCm39)	C428R	probably benign	Het
Birc6	A	G	17: 74,892,980 (GRCm39)	T973A	probably benign	Het
Bmp2k	C	T	5: 97,216,293 (GRCm39)	T597I	unknown	Het
Bmpr1a	G	A	14: 34,165,836 (GRCm39)	P57L	possibly damaging	Het
Camk2d	A	T	3: 126,591,379 (GRCm39)	H283L	possibly damaging	Het
Ces1b	C	A	8: 93,806,132 (GRCm39)	K36N	possibly damaging	Het
Ces2a	T	A	8: 105,465,672 (GRCm39)	M308K	probably benign	Het
Ctnnd2	C	A	15: 30,683,501 (GRCm39)	Q501K	probably benign	Het
Cyb561d1	T	C	3: 108,106,629 (GRCm39)	T197A	probably benign	Het
Dedd2	C	A	7: 24,918,391 (GRCm39)	A55S	probably damaging	Het
Dnah2	C	T	11: 69,391,643 (GRCm39)	R684Q	probably damaging	Het
Elovl3	A	G	19: 46,122,979 (GRCm39)	Y185C	probably damaging	Het
Fgf3	C	T	7: 144,392,569 (GRCm39)	A42V	probably damaging	Het
Gabra5	A	G	7: 57,140,529 (GRCm39)	L56P	probably damaging	Het
Gm19410	T	G	8: 36,281,997 (GRCm39)	V1860G	possibly damaging	Het
Gm21663	G	T	5: 26,143,751 (GRCm39)	N190K	probably damaging	Het
Grm3	T	A	5: 9,639,581 (GRCm39)	I155L	probably benign	Het
Hadha	A	G	5: 30,327,755 (GRCm39)	I495T	probably damaging	Het
Herc4	C	T	10: 63,109,365 (GRCm39)	A200V	possibly damaging	Het
Itga3	C	A	11: 94,967,188 (GRCm39)		probably benign	Het
Krt6a	C	T	15: 101,602,289 (GRCm39)	S132N	probably benign	Het
Lpar1	T	C	4: 58,486,857 (GRCm39)	N138S	possibly damaging	Het
Lrrc42	T	A	4: 107,096,983 (GRCm39)	T247S	probably damaging	Het
Man2b1	T	A	8: 85,813,804 (GRCm39)	V256E	probably damaging	Het
Map3k4	G	T	17: 12,490,536 (GRCm39)	Y298*	probably null	Het
Mars1	A	G	10: 127,144,455 (GRCm39)	V195A	probably benign	Het
Mdm4	A	T	1: 132,922,311 (GRCm39)	V278E	probably benign	Het
Mdp1	A	G	14: 55,897,544 (GRCm39)	V37A	probably damaging	Het
Med13	A	G	11: 86,199,652 (GRCm39)	I685T	probably benign	Het
Mobp	A	G	9: 119,996,914 (GRCm39)	N15S	probably damaging	Het
Nbn	T	A	4: 15,979,320 (GRCm39)	M435K	probably benign	Het
Nfs1	A	G	2: 155,965,703 (GRCm39)	V126A	probably benign	Het
Npepl1	T	A	2: 173,963,909 (GRCm39)	V480E	probably damaging	Het
Nr2e3	G	A	9: 59,855,972 (GRCm39)	S155F	possibly damaging	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or4c124	A	T	2: 89,156,157 (GRCm39)	Y122*	probably null	Het
Or51q1c	A	G	7: 103,653,046 (GRCm39)	H188R	probably benign	Het
Pard3	T	C	8: 128,098,056 (GRCm39)	Y366H	probably damaging	Het
Pcdhb11	A	G	18: 37,555,006 (GRCm39)	N112S	possibly damaging	Het
Pde11a	A	G	2: 76,168,189 (GRCm39)	S255P	probably damaging	Het
Piezo1	T	C	8: 123,224,268 (GRCm39)	H745R		Het
Pkn2	A	T	3: 142,517,776 (GRCm39)	S441T	possibly damaging	Het
Pld1	A	C	3: 28,130,550 (GRCm39)	H450P	probably damaging	Het
Plekhs1	T	A	19: 56,459,209 (GRCm39)	H22Q	probably damaging	Het
Prss44	A	C	9: 110,645,611 (GRCm39)	Y285S	probably damaging	Het
Qpctl	T	C	7: 18,878,852 (GRCm39)	E249G	probably benign	Het
Rcsd1	A	T	1: 165,491,185 (GRCm39)	S50T	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scube1	T	A	15: 83,505,266 (GRCm39)	N496Y	probably damaging	Het
Skic3	A	G	13: 76,328,196 (GRCm39)	M1415V	probably benign	Het
Slc16a8	AGGCC	A	15: 79,136,125 (GRCm39)		probably null	Het
Slc38a4	T	A	15: 96,903,781 (GRCm39)	T407S	probably benign	Het
Slc51a	T	G	16: 32,298,590 (GRCm39)	I56L	probably benign	Het
Slc6a18	T	G	13: 73,819,755 (GRCm39)	I272L	probably damaging	Het
Sorl1	A	G	9: 42,035,375 (GRCm39)	L12P	possibly damaging	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Syne1	C	T	10: 5,178,218 (GRCm39)	R4752Q	probably damaging	Het
Tbc1d9	C	A	8: 83,997,957 (GRCm39)	H1171Q	probably damaging	Het
Thsd1	G	A	8: 22,733,597 (GRCm39)	V215I	probably benign	Het
Tmem143	T	A	7: 45,557,598 (GRCm39)	M208K	probably benign	Het
Tmem63b	C	T	17: 45,977,048 (GRCm39)	V440I	probably benign	Het
Tnik	A	T	3: 28,700,776 (GRCm39)	S918C	probably damaging	Het
Ttn	A	G	2: 76,733,751 (GRCm39)	I4508T	unknown	Het
Vav2	A	G	2: 27,173,334 (GRCm39)	F497L	probably damaging	Het
Zc3h14	G	A	12: 98,751,988 (GRCm39)	R730Q	probably damaging	Het
Zfp560	G	A	9: 20,259,384 (GRCm39)	H493Y	probably damaging	Het

Other mutations in Cd86

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01464:Cd86	APN	16	36,441,315 (GRCm39)	missense	probably benign	0.04
IGL01723:Cd86	APN	16	36,427,486 (GRCm39)	missense	probably benign
IGL01834:Cd86	APN	16	36,427,481 (GRCm39)	missense	probably benign	0.20
IGL02554:Cd86	APN	16	36,438,847 (GRCm39)	missense	probably benign	0.01
IGL02714:Cd86	APN	16	36,441,290 (GRCm39)	missense	possibly damaging	0.49
R0032:Cd86	UTSW	16	36,441,235 (GRCm39)	missense	probably damaging	0.96
R0032:Cd86	UTSW	16	36,441,235 (GRCm39)	missense	probably damaging	0.96
R0315:Cd86	UTSW	16	36,441,306 (GRCm39)	missense	possibly damaging	0.88
R0494:Cd86	UTSW	16	36,438,999 (GRCm39)	splice site	probably benign
R1345:Cd86	UTSW	16	36,438,686 (GRCm39)	splice site	probably null
R1459:Cd86	UTSW	16	36,449,350 (GRCm39)	missense	probably benign	0.09
R1616:Cd86	UTSW	16	36,449,338 (GRCm39)	missense	probably benign	0.00
R4436:Cd86	UTSW	16	36,441,194 (GRCm39)	missense	probably benign	0.04
R4593:Cd86	UTSW	16	36,426,918 (GRCm39)	makesense	probably null
R4612:Cd86	UTSW	16	36,435,692 (GRCm39)	missense	probably benign	0.00
R6058:Cd86	UTSW	16	36,449,377 (GRCm39)	missense	possibly damaging	0.91
R7140:Cd86	UTSW	16	36,441,263 (GRCm39)	missense	probably benign	0.09
R7174:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R7176:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R7177:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R7181:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R7183:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R7232:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R7255:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R7256:Cd86	UTSW	16	36,426,917 (GRCm39)	frame shift	probably null
R8826:Cd86	UTSW	16	36,435,650 (GRCm39)	missense	possibly damaging	0.45
R9595:Cd86	UTSW	16	36,441,275 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACACTGCCACCTGTTTATG -3'
(R):5'- AGGGTGGTTTTATGTCCAACATTAG -3'

Sequencing Primer
(F):5'- CACCTGTTTATGGCTACTTTCC -3'
(R):5'- TCTGAGACCCAAGAGTCT -3'

Posted On

2019-06-26