Incidental Mutation 'IGL03304:Cd274'
ID 416327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd274
Ensembl Gene ENSMUSG00000016496
Gene Name CD274 antigen
Synonyms Pdcd1lg1, PD-L1, B7-H1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03304
Quality Score
Status
Chromosome 19
Chromosomal Location 29344855-29365495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 29361502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 270 (E270A)
Ref Sequence ENSEMBL: ENSMUSP00000016640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016640]
AlphaFold Q9EP73
Predicted Effect probably damaging
Transcript: ENSMUST00000016640
AA Change: E270A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016640
Gene: ENSMUSG00000016496
AA Change: E270A

DomainStartEndE-ValueType
IG 24 131 1.5e-7 SMART
IG_like 138 226 4.78e1 SMART
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A T 9: 106,312,665 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,438 (GRCm39) probably benign Het
Anapc1 A T 2: 128,469,033 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aoah A G 13: 21,099,180 (GRCm39) probably benign Het
Atp9b A T 18: 80,961,092 (GRCm39) Y40N probably damaging Het
Brd8 A G 18: 34,747,633 (GRCm39) probably benign Het
Cic T A 7: 24,984,274 (GRCm39) V23E probably damaging Het
Cpeb4 T C 11: 31,822,739 (GRCm39) L151P probably damaging Het
D3Ertd751e G A 3: 41,701,164 (GRCm39) probably null Het
Diaph1 A T 18: 37,987,626 (GRCm39) D1043E possibly damaging Het
Fcgbpl1 A G 7: 27,841,667 (GRCm39) Y534C probably damaging Het
Hmcn1 T A 1: 150,505,982 (GRCm39) N3848I probably damaging Het
Ifi211 A T 1: 173,735,273 (GRCm39) M52K probably damaging Het
Itih4 T C 14: 30,620,006 (GRCm39) I747T probably damaging Het
Kifbp A C 10: 62,395,082 (GRCm39) L520R probably damaging Het
Lcat T C 8: 106,666,695 (GRCm39) M276V possibly damaging Het
Mmp1b A T 9: 7,384,701 (GRCm39) D282E probably damaging Het
Mst1r T A 9: 107,785,137 (GRCm39) V265D probably damaging Het
Muc4 T A 16: 32,570,257 (GRCm39) L439* probably null Het
Nlrp4e T A 7: 23,052,768 (GRCm39) probably null Het
Ogfod2 A T 5: 124,250,886 (GRCm39) D24V probably damaging Het
Or1ak2 T C 2: 36,827,560 (GRCm39) L143P probably damaging Het
Or5b105 A G 19: 13,080,105 (GRCm39) S182P probably damaging Het
Or9s23 T C 1: 92,501,025 (GRCm39) V44A probably benign Het
Pcnx1 T A 12: 82,028,803 (GRCm39) W1661R probably damaging Het
Pdzph1 G A 17: 59,187,641 (GRCm39) T1193I probably damaging Het
Pias3 A G 3: 96,607,347 (GRCm39) T152A possibly damaging Het
Pla2g5 A T 4: 138,531,880 (GRCm39) Y41* probably null Het
Plxna4 A G 6: 32,141,986 (GRCm39) probably benign Het
Ppp2r2a A C 14: 67,253,977 (GRCm39) V397G probably benign Het
Ripor3 A G 2: 167,822,848 (GRCm39) probably benign Het
Slc35a3 A G 3: 116,480,960 (GRCm39) L101P probably damaging Het
Sptan1 G A 2: 29,876,505 (GRCm39) R295Q probably damaging Het
Syce1 A T 7: 140,357,623 (GRCm39) V314D possibly damaging Het
Tex52 T C 6: 128,356,495 (GRCm39) Y63H possibly damaging Het
Tmem63a T A 1: 180,796,418 (GRCm39) Y580* probably null Het
Ube2m T A 7: 12,769,685 (GRCm39) probably benign Het
Vmn1r50 G T 6: 90,084,625 (GRCm39) K123N probably damaging Het
Other mutations in Cd274
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9525:Cd274 UTSW 19 29,359,879 (GRCm39) missense probably benign 0.08
Posted On 2016-08-02