Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Cd86'

559133

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

MMRRC Submission

045235-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7183 (G1)

Quality Score

217.468

Status

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,706 (GRCm39)	M816L	possibly damaging	Het
Ahnak	T	C	19: 8,995,032 (GRCm39)	F5439L	probably damaging	Het
Apba2	G	A	7: 64,383,293 (GRCm39)	D369N	probably benign	Het
Arhgap32	A	G	9: 32,097,679 (GRCm39)	N228D	probably benign	Het
Arhgap33	T	A	7: 30,225,296 (GRCm39)		probably null	Het
Cacna1g	C	T	11: 94,330,563 (GRCm39)	C984Y	probably benign	Het
Cadm2	C	A	16: 66,679,720 (GRCm39)	G47*	probably null	Het
Ccdc125	A	G	13: 100,826,866 (GRCm39)	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,868,620 (GRCm39)	E822A	probably damaging	Het
Cdc42bpg	A	G	19: 6,360,827 (GRCm39)	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,795,706 (GRCm39)	R275G	probably damaging	Het
Chst4	T	C	8: 110,756,630 (GRCm39)	N411S	possibly damaging	Het
Cir1	A	G	2: 73,116,730 (GRCm39)	V210A	probably damaging	Het
Col6a1	A	G	10: 76,552,093 (GRCm39)		probably null	Het
Crmp1	C	A	5: 37,446,161 (GRCm39)	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,367,418 (GRCm39)	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,097,990 (GRCm39)	Q677L	unknown	Het
Dnah17	G	A	11: 118,020,014 (GRCm39)	T11I	probably benign	Het
Ehd1	A	G	19: 6,347,684 (GRCm39)	H346R	probably benign	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Emc3	G	T	6: 113,508,345 (GRCm39)	Y33*	probably null	Het
Ercc5	A	T	1: 44,200,968 (GRCm39)		probably null	Het
Ercc5	G	T	1: 44,200,969 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,834,133 (GRCm39)	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,312,431 (GRCm39)		probably null	Het
Gmnc	C	T	16: 26,779,279 (GRCm39)	D249N	probably benign	Het
Gsn	C	T	2: 35,184,960 (GRCm39)	A305V	probably benign	Het
Haus6	A	T	4: 86,501,989 (GRCm39)	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,558,920 (GRCm39)		probably null	Het
Hoxd9	G	T	2: 74,528,709 (GRCm39)	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,609,200 (GRCm39)	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,436 (GRCm39)	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,722,469 (GRCm39)	V386M	probably damaging	Het
Masp2	A	G	4: 148,696,614 (GRCm39)	S404G	probably benign	Het
Or5b102	A	G	19: 13,041,680 (GRCm39)	I302V	probably benign	Het
Or5m12	T	A	2: 85,734,486 (GRCm39)	Q304L	probably benign	Het
Or7g20	G	T	9: 18,946,628 (GRCm39)	D70Y	probably damaging	Het
P4htm	A	T	9: 108,459,059 (GRCm39)	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,121,538 (GRCm39)	S49P	probably benign	Het
Pdzd7	A	G	19: 45,025,553 (GRCm39)	V314A	probably benign	Het
Pfkl	G	A	10: 77,837,916 (GRCm39)	R31*	probably null	Het
Phlpp2	C	A	8: 110,666,585 (GRCm39)	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 132,994,203 (GRCm39)	S56P	probably benign	Het
Plec	A	G	15: 76,089,905 (GRCm39)	V145A	unknown	Het
Prg3	G	A	2: 84,821,848 (GRCm39)	V158I	probably benign	Het
Prg3	G	T	2: 84,823,367 (GRCm39)	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,677,161 (GRCm39)	T370A	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,287,066 (GRCm39)	M578K	probably damaging	Het
Siae	G	A	9: 37,528,242 (GRCm39)	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,660,511 (GRCm39)	D1864E	probably benign	Het
Smox	T	C	2: 131,362,486 (GRCm39)	I255T	possibly damaging	Het
Spata31e2	G	A	1: 26,721,914 (GRCm39)	L1089F	probably benign	Het
Tas2r123	A	G	6: 132,824,661 (GRCm39)	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,910,378 (GRCm39)	I74F	possibly damaging	Het
Timm44	T	C	8: 4,317,311 (GRCm39)	D238G	probably damaging	Het
Tlk2	T	C	11: 105,112,185 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,931,365 (GRCm39)	S782P	probably damaging	Het
Tpr	A	T	1: 150,282,302 (GRCm39)	K336N	probably damaging	Het
Uggt2	A	T	14: 119,257,049 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,440 (GRCm39)	I812N	probably damaging	Het
Vps33a	T	C	5: 123,673,278 (GRCm39)	Q436R	probably null	Het
Ywhaq	T	C	12: 21,466,870 (GRCm39)	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,665,593 (GRCm39)	S290P	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
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
R7267: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