|Institutional Source||Beutler Lab|
|Gene Name||CD274 antigen|
|Synonyms||Pdcd1lg1, B7-H1, PD-L1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5122 (G1)|
|Chromosomal Location||29367455-29388095 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 29380565 bp|
|Amino Acid Change||Histidine to Arginine at position 219 (H219R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016640 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016640]|
|Predicted Effect||possibly damaging
AA Change: H219R
PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: H219R
|Coding Region Coverage||
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||
|Other mutations in Cd274||
(F):5'- CCAGAAGCTGAGGTAATCTGG -3'
(R):5'- CTGTCTGTCAGGAGCAAACAC -3'
(F):5'- GGTAATCTGGACAAACAGTGACCAC -3'
(R):5'- GACCAAGTAGCATTATGGCTTGCAC -3'