Mutagenetix > Incidental Mutation

Incidental Mutation 'R8114:Cd274'

631102

Institutional Source

Beutler Lab

Gene Symbol

Cd274

Ensembl Gene

ENSMUSG00000016496

Gene Name

CD274 antigen

Synonyms

Pdcd1lg1, PD-L1, B7-H1

MMRRC Submission

067543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8114 (G1)

Quality Score

183.009

Status

Validated

Chromosome

Chromosomal Location

29344855-29365495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29361528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 279 (S279P)

Ref Sequence

ENSEMBL: ENSMUSP00000016640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016640]

AlphaFold

Q9EP73

Predicted Effect

probably damaging
Transcript: ENSMUST00000016640
AA Change: S279P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016640
Gene: ENSMUSG00000016496
AA Change: S279P

Domain	Start	End	E-Value	Type
IG	24	131	1.5e-7	SMART
IG_like	138	226	4.78e1	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: The protein encoded by this gene is an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Mice deficient for this gene display a variety of phenotypes including decreased allogeneic fetal survival rates and severe experimental autoimmune encephalomyelitis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered susceptibility to experimental autoimmune encephalomyelitis, induced arthritis, nerve injury, autoimmune diabetes, bacterial infection, viral infection, and parasitic infection due to abnormal T cellmorphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	T	16: 14,407,091 (GRCm39)	E7*	probably null	Het
Abca7	T	C	10: 79,844,874 (GRCm39)	I1532T	probably damaging	Het
Adam12	T	C	7: 133,569,617 (GRCm39)	D286G	probably damaging	Het
Ahnak2	T	C	12: 112,741,163 (GRCm39)	T970A	probably benign	Het
Apcdd1	A	G	18: 63,083,127 (GRCm39)	N319S	probably damaging	Het
Arih1	A	G	9: 59,303,836 (GRCm39)	M423T	probably benign	Het
Ccdc110	A	T	8: 46,396,140 (GRCm39)	Q677L	probably damaging	Het
Ccdc121rt3	C	A	5: 112,503,563 (GRCm39)	R47L	probably benign	Het
Ccdc171	A	G	4: 83,614,537 (GRCm39)	N1046S	probably damaging	Het
Ccdc63	G	T	5: 122,251,244 (GRCm39)	Q389K	possibly damaging	Het
Cdcp2	A	T	4: 106,962,555 (GRCm39)	I243F	probably damaging	Het
Cfap298	T	C	16: 90,731,545 (GRCm39)	T22A	probably benign	Het
Cul2	A	T	18: 3,426,164 (GRCm39)	K414*	probably null	Het
Daglb	A	G	5: 143,464,218 (GRCm39)	H243R	probably benign	Het
Dnah5	A	T	15: 28,240,122 (GRCm39)	Y493F	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eea1	G	T	10: 95,830,851 (GRCm39)	E171*	probably null	Het
Eml6	C	T	11: 29,704,910 (GRCm39)	G1545R	probably damaging	Het
Epg5	A	G	18: 78,073,365 (GRCm39)	I2463V	probably benign	Het
Fgl1	A	G	8: 41,644,620 (GRCm39)	Y295H	probably damaging	Het
Frrs1	A	G	3: 116,675,425 (GRCm39)	T118A	probably damaging	Het
Gdi2	T	C	13: 3,598,906 (GRCm39)	V30A	probably damaging	Het
Ints4	A	G	7: 97,165,732 (GRCm39)		probably null	Het
Iqsec3	A	G	6: 121,390,458 (GRCm39)	S338P	unknown	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Ldah	A	G	12: 8,334,039 (GRCm39)	E310G	probably damaging	Het
Mtnr1b	A	G	9: 15,785,563 (GRCm39)	V65A	probably damaging	Het
Myo7b	G	T	18: 32,098,677 (GRCm39)	T1735K	probably damaging	Het
Neb	A	T	2: 52,215,734 (GRCm39)	V191D	possibly damaging	Het
Oas1e	T	C	5: 120,924,708 (GRCm39)	T377A	unknown	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or10al6	T	C	17: 38,082,880 (GRCm39)	F112S	possibly damaging	Het
Or10v9	G	A	19: 11,832,466 (GRCm39)	P284S	probably damaging	Het
Or8k53	A	T	2: 86,177,530 (GRCm39)	H193Q	probably benign	Het
Platr25	T	C	13: 62,821,738 (GRCm39)	S70G	possibly damaging	Het
Plcl2	T	C	17: 50,994,815 (GRCm39)	S1095P	probably damaging	Het
Polq	A	G	16: 36,862,577 (GRCm39)	K637E	possibly damaging	Het
Rbm47	T	C	5: 66,184,196 (GRCm39)	I136V	probably benign	Het
Serpinb3c	A	C	1: 107,204,034 (GRCm39)	N59K	probably benign	Het
Shcbp1	T	A	8: 4,817,930 (GRCm39)	N122Y	probably damaging	Het
Sim2	T	C	16: 93,923,503 (GRCm39)	V347A	probably benign	Het
Slc22a30	A	T	19: 8,381,904 (GRCm39)	Y122*	probably null	Het
Slc34a2	G	A	5: 53,225,701 (GRCm39)	S450N	probably benign	Het
Snx17	A	T	5: 31,355,046 (GRCm39)	M354L	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Surf6	G	A	2: 26,782,380 (GRCm39)	Q316*	probably null	Het
Tiprl	A	G	1: 165,055,991 (GRCm39)	S44P	probably benign	Het
Tmem39a	T	G	16: 38,411,359 (GRCm39)	L438R	probably damaging	Het
Tmem39a	C	A	16: 38,411,358 (GRCm39)	L438M	probably damaging	Het
Tns2	G	C	15: 102,019,825 (GRCm39)	V572L	probably benign	Het
Trdn	T	C	10: 32,959,624 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,952,411 (GRCm39)	I587V	probably benign	Het
Usp47	A	G	7: 111,692,394 (GRCm39)	D952G	probably damaging	Het
Vmn2r58	A	T	7: 41,511,392 (GRCm39)	N470K	probably damaging	Het
Vmn2r67	A	T	7: 84,805,097 (GRCm39)	I5N	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ythdc2	A	G	18: 45,010,807 (GRCm39)	D1272G	probably benign	Het
Zfp959	A	G	17: 56,205,496 (GRCm39)	Y511C	probably benign	Het

Other mutations in Cd274

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01766:Cd274	APN	19	29,362,810 (GRCm39)	makesense	probably null
IGL02232:Cd274	APN	19	29,359,938 (GRCm39)	missense	probably damaging	0.99
IGL03304:Cd274	APN	19	29,361,502 (GRCm39)	missense	probably damaging	0.99
R1233:Cd274	UTSW	19	29,351,301 (GRCm39)	critical splice donor site	probably null
R1356:Cd274	UTSW	19	29,350,970 (GRCm39)	missense	possibly damaging	0.92
R1464:Cd274	UTSW	19	29,359,992 (GRCm39)	splice site	probably benign
R1853:Cd274	UTSW	19	29,357,882 (GRCm39)	missense	probably damaging	1.00
R4280:Cd274	UTSW	19	29,357,871 (GRCm39)	missense	probably benign
R4283:Cd274	UTSW	19	29,357,871 (GRCm39)	missense	probably benign
R4553:Cd274	UTSW	19	29,357,848 (GRCm39)	missense	probably benign	0.43
R5063:Cd274	UTSW	19	29,361,543 (GRCm39)	missense	probably damaging	0.99
R5122:Cd274	UTSW	19	29,357,965 (GRCm39)	missense	possibly damaging	0.57
R5187:Cd274	UTSW	19	29,359,936 (GRCm39)	missense	probably benign	0.01
R5736:Cd274	UTSW	19	29,359,940 (GRCm39)	missense	probably benign	0.02
R6400:Cd274	UTSW	19	29,362,808 (GRCm39)	missense	probably damaging	1.00
R8247:Cd274	UTSW	19	29,362,795 (GRCm39)	nonsense	probably null
R9099:Cd274	UTSW	19	29,357,771 (GRCm39)	nonsense	probably null
R9525:Cd274	UTSW	19	29,359,879 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCTAAAAGCCTGGTGATTAGGG -3'
(R):5'- TCACGGCTAAAGTATGTCTCTTG -3'

Sequencing Primer
(F):5'- GGATTGATCGGTGTCTCCTAAAAACC -3'
(R):5'- GGTAACAGTAGCTTTTTCTGCTC -3'

Posted On

2020-06-30