Mutagenetix > Incidental Mutation

Incidental Mutation 'R2861:Cd8b1'

476822

Institutional Source

Beutler Lab

Gene Symbol

Cd8b1

Ensembl Gene

ENSMUSG00000053044

Gene Name

CD8 subunit beta 1

Synonyms

Ly-3, Ly-C, Lyt-3

MMRRC Submission

040451-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R2861 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71299772-71314476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71311085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 202 (R202G)

Ref Sequence

ENSEMBL: ENSMUSP00000070131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065248]

AlphaFold

P10300

PDB Structure

Crystal structure of a CD8ab heterodimer [X-RAY DIFFRACTION]
Crystal structure of CD8alpha-beta in complex with YTS 156.7 FAB [X-RAY DIFFRACTION]
Crystal structure of the CD8 alpha beta/H-2Dd complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065248
AA Change: R202G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070131
Gene: ENSMUSG00000053044
AA Change: R202G

Domain	Start	End	E-Value	Type
IGv	36	119	2.33e-13	SMART
low complexity region	141	156	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203871

Meta Mutation Damage Score

0.8603

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene lack CD8+CD4- cytotoxic T cells in the thymus and spleen and do not mount a cytotoxic response to alloantigens. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(3)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,571,736 (GRCm39)	V1131M	probably benign	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Ano1	C	T	7: 144,143,749 (GRCm39)	G1011E	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Ash1l	T	C	3: 88,961,785 (GRCm39)	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277 (GRCm39)	D250G	probably damaging	Het
Atr	A	G	9: 95,756,296 (GRCm39)	N836S	probably benign	Het
Bltp1	G	A	3: 37,019,998 (GRCm39)	S2079N	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
C2	T	C	17: 35,082,854 (GRCm39)	T471A	possibly damaging	Het
C4b	T	A	17: 34,953,732 (GRCm39)	S959C	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Capn2	A	T	1: 182,300,485 (GRCm39)		probably benign	Het
Cd38	A	G	5: 44,058,775 (GRCm39)	S130G	probably damaging	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cps1	A	T	1: 67,205,534 (GRCm39)	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,392,309 (GRCm39)	Y215*	probably null	Het
Dennd10	T	C	19: 60,803,232 (GRCm39)	S80P	probably benign	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gab1	T	C	8: 81,511,382 (GRCm39)	M488V	probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gbx2	C	T	1: 89,856,853 (GRCm39)	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Gpn1	A	G	5: 31,654,664 (GRCm39)	D72G	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,401,442 (GRCm39)	L189R	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Inka1	T	C	9: 107,861,603 (GRCm39)	T238A	probably benign	Het
Itsn2	C	A	12: 4,750,315 (GRCm39)		probably benign	Het
Kcnn1	T	C	8: 71,299,179 (GRCm39)	K487R	probably benign	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Klhdc10	G	A	6: 30,402,139 (GRCm39)	R48H	unknown	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lama5	T	C	2: 179,829,040 (GRCm39)	T2034A	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4f56	G	T	2: 111,703,818 (GRCm39)	C127*	probably null	Het
Or5p66	A	G	7: 107,886,169 (GRCm39)	S55P	probably damaging	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parp16	G	T	9: 65,141,086 (GRCm39)	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,259,500 (GRCm39)	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,784,420 (GRCm39)	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Plin4	T	C	17: 56,413,668 (GRCm39)	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rims1	A	T	1: 22,503,227 (GRCm39)	F653I	probably benign	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,607,979 (GRCm39)	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,386,003 (GRCm39)	V115M	probably damaging	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Sri	A	T	5: 8,117,540 (GRCm39)	Q178L	probably benign	Het
Tex14	T	G	11: 87,365,243 (GRCm39)	D62E	probably damaging	Het
Tshz1	G	T	18: 84,033,105 (GRCm39)	H434Q	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r59	A	G	7: 41,696,427 (GRCm39)	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,454,760 (GRCm39)	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Wiz	G	T	17: 32,580,680 (GRCm39)	T257K	probably damaging	Het
Xirp1	T	C	9: 119,848,881 (GRCm39)	M1V	probably null	Het
Xirp1	A	G	9: 119,847,444 (GRCm39)	S41P	probably benign	Het

Other mutations in Cd8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Cd8b1	APN	6	71,309,463 (GRCm39)	nonsense	probably null
ablate	UTSW	6	71,306,777 (GRCm39)	critical splice donor site	probably null
Carlsbad	UTSW	6	71,311,085 (GRCm39)	missense	probably damaging	1.00
denuded	UTSW	6	71,303,324 (GRCm39)	missense	probably damaging	1.00
3-1:Cd8b1	UTSW	6	71,303,246 (GRCm39)	missense	probably damaging	1.00
R1707:Cd8b1	UTSW	6	71,303,168 (GRCm39)	missense	probably damaging	1.00
R2438:Cd8b1	UTSW	6	71,306,740 (GRCm39)	missense	probably damaging	0.96
R2860:Cd8b1	UTSW	6	71,311,085 (GRCm39)	missense	probably damaging	1.00
R4405:Cd8b1	UTSW	6	71,303,006 (GRCm39)	missense	possibly damaging	0.90
R4583:Cd8b1	UTSW	6	71,303,081 (GRCm39)	missense	probably damaging	1.00
R4611:Cd8b1	UTSW	6	71,309,459 (GRCm39)	missense	probably benign
R4657:Cd8b1	UTSW	6	71,306,758 (GRCm39)	missense	possibly damaging	0.77
R5604:Cd8b1	UTSW	6	71,303,159 (GRCm39)	missense	probably benign	0.00
R6795:Cd8b1	UTSW	6	71,303,324 (GRCm39)	missense	probably damaging	1.00
R6828:Cd8b1	UTSW	6	71,311,100 (GRCm39)	missense	probably benign	0.42
R8351:Cd8b1	UTSW	6	71,306,777 (GRCm39)	critical splice donor site	probably null
R9189:Cd8b1	UTSW	6	71,306,752 (GRCm39)	missense	probably benign
R9289:Cd8b1	UTSW	6	71,306,777 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2017-05-15