Mutagenetix > Incidental Mutation

Incidental Mutation 'R9525:Cd274'

719186

Institutional Source

Beutler Lab

Gene Symbol

Cd274

Ensembl Gene

ENSMUSG00000016496

Gene Name

CD274 antigen

Synonyms

Pdcd1lg1, PD-L1, B7-H1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9525 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29344855-29365495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29359879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 228 (L228Q)

Ref Sequence

ENSEMBL: ENSMUSP00000016640 (fasta)

Gene Model

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

AlphaFold

Q9EP73

Predicted Effect

probably benign
Transcript: ENSMUST00000016640
AA Change: L228Q

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000016640
Gene: ENSMUSG00000016496
AA Change: L228Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,000 (GRCm39)	D264V	possibly damaging	Het
Adgrv1	C	T	13: 81,593,453 (GRCm39)	G4178E	possibly damaging	Het
Alpk2	A	G	18: 65,399,288 (GRCm39)	Y2097H	probably damaging	Het
Anapc2	T	C	2: 25,166,339 (GRCm39)	S369P	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Cbx7	A	C	15: 79,814,797 (GRCm39)	W35G	probably damaging	Het
Cc2d2b	T	C	19: 40,773,430 (GRCm39)	Y498H	probably damaging	Het
Ccdc162	T	A	10: 41,559,222 (GRCm39)	R126W	probably damaging	Het
Cfap57	A	T	4: 118,433,778 (GRCm39)	I1000N	probably damaging	Het
Cfhr4	G	T	1: 139,702,250 (GRCm39)	T78K	probably damaging	Het
Chadl	C	A	15: 81,578,220 (GRCm39)	G470C	probably damaging	Het
Clasp2	T	C	9: 113,740,677 (GRCm39)	L1217P	probably damaging	Het
Crnkl1	A	G	2: 145,770,198 (GRCm39)	V215A	probably benign	Het
Dbx2	G	T	15: 95,552,304 (GRCm39)	H114N	probably benign	Het
Ddb2	T	G	2: 91,065,180 (GRCm39)	T82P	probably benign	Het
Emc8	T	C	8: 121,394,656 (GRCm39)	Y21C	probably damaging	Het
Epha1	A	T	6: 42,344,758 (GRCm39)	M66K	probably damaging	Het
Fan1	A	C	7: 64,022,007 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,583,955 (GRCm39)	L123Q	probably damaging	Het
Flnb	T	A	14: 7,905,481 (GRCm38)	V1077E	probably damaging	Het
Fnbp1l	A	T	3: 122,352,703 (GRCm39)	M251K	probably damaging	Het
Gal3st2c	T	A	1: 93,935,928 (GRCm39)	F93L	probably damaging	Het
Gdf2	T	C	14: 33,667,564 (GRCm39)	*429Q	probably null	Het
Gdpd5	A	G	7: 99,104,156 (GRCm39)	T455A	possibly damaging	Het
Gm8356	G	T	14: 17,691,339 (GRCm39)	Q109K		Het
Gpr20	A	T	15: 73,567,681 (GRCm39)	V236E	probably benign	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Grin1	T	C	2: 25,187,472 (GRCm39)	N613D	probably damaging	Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hepacam2	A	G	6: 3,476,046 (GRCm39)	V293A	probably benign	Het
Igf1r	G	A	7: 67,864,682 (GRCm39)	R1160Q	probably damaging	Het
Iqcd	T	C	5: 120,738,217 (GRCm39)	Y12H	probably benign	Het
Itih1	T	C	14: 30,658,711 (GRCm39)	S393G	probably benign	Het
Klhl33	T	C	14: 51,128,929 (GRCm39)	M507V	probably null	Het
Mast4	G	T	13: 102,872,944 (GRCm39)	H2141Q	probably benign	Het
Mkrn2	T	A	6: 115,587,486 (GRCm39)	D54E	probably damaging	Het
Mrm3	A	G	11: 76,141,104 (GRCm39)	T371A	possibly damaging	Het
Msantd5f3	G	A	4: 73,573,061 (GRCm39)	S100N	probably benign	Het
Mylk2	T	A	2: 152,759,552 (GRCm39)	M414K	probably damaging	Het
Nlrp4b	A	G	7: 10,448,748 (GRCm39)	E317G	probably damaging	Het
Or51b6b	A	T	7: 103,310,142 (GRCm39)	I105N	probably damaging	Het
Or51i2	A	G	7: 103,689,820 (GRCm39)	I272M	possibly damaging	Het
Or8k20	A	G	2: 86,106,484 (GRCm39)	S116P	probably benign	Het
Pcdhb18	T	A	18: 37,624,887 (GRCm39)	V739E	probably damaging	Het
Pkhd1l1	A	T	15: 44,448,322 (GRCm39)	T3834S	possibly damaging	Het
Pkp3	A	G	7: 140,668,310 (GRCm39)	D546G	probably damaging	Het
Pot1a	A	T	6: 25,745,916 (GRCm39)	M595K	probably benign	Het
Pus7l	A	G	15: 94,438,764 (GRCm39)	I27T	probably damaging	Het
Rbp3	A	G	14: 33,676,402 (GRCm39)	I117V	probably benign	Het
Rnf19a	A	T	15: 36,247,375 (GRCm39)	L454H	probably damaging	Het
Rps6kb1	C	A	11: 86,410,746 (GRCm39)	K167N	possibly damaging	Het
Saxo1	A	T	4: 86,363,186 (GRCm39)	Y432*	probably null	Het
Setdb2	A	T	14: 59,646,841 (GRCm39)	V558E	probably benign	Het
Spmap2l	A	G	5: 77,195,138 (GRCm39)	N104S	probably benign	Het
Tbck	T	C	3: 132,456,966 (GRCm39)	F627L	probably damaging	Het
Tbpl2	T	G	2: 23,986,547 (GRCm39)	M1L	probably benign	Het
Timp2	A	C	11: 118,194,678 (GRCm39)	D170E	probably benign	Het
Tomm40	A	G	7: 19,436,812 (GRCm39)	Y303H	probably damaging	Het
Trgv5	T	C	13: 19,376,885 (GRCm39)	C111R	probably damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Vmn1r159	A	G	7: 22,542,417 (GRCm39)	V205A	probably damaging	Het
Vmn2r25	G	T	6: 123,800,164 (GRCm39)	T726K	probably damaging	Het
Wwox	T	A	8: 115,433,105 (GRCm39)	V257E	probably benign	Het
Xxylt1	A	G	16: 30,869,593 (GRCm39)	I169T	probably benign	Het
Zfp1007	A	T	5: 109,824,846 (GRCm39)	N201K		Het
Zfp457	T	C	13: 67,441,492 (GRCm39)	Y361C	probably damaging	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
R8114:Cd274	UTSW	19	29,361,528 (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

Predicted Primers

PCR Primer
(F):5'- AGGCCTGGAGTTCTTCTCTG -3'
(R):5'- TGTCAGGGTGGTACCATCTC -3'

Sequencing Primer
(F):5'- GTGCTGCTCCCAGTTTCTTAGG -3'
(R):5'- GGCACTGCCTGCTCAAG -3'

Posted On

2022-07-18