Incidental Mutation 'R5063:Cd274'
ID 500843
Institutional Source Beutler Lab
Gene Symbol Cd274
Ensembl Gene ENSMUSG00000016496
Gene Name CD274 antigen
Synonyms Pdcd1lg1, PD-L1, B7-H1
MMRRC Submission 042653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5063 (G1)
Quality Score 220
Status Not validated
Chromosome 19
Chromosomal Location 29344855-29365495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 29361543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 284 (D284Y)
Ref Sequence ENSEMBL: ENSMUSP00000016640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016640]
AlphaFold Q9EP73
Predicted Effect probably damaging
Transcript: ENSMUST00000016640
AA Change: D284Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000016640
Gene: ENSMUSG00000016496
AA Change: D284Y

DomainStartEndE-ValueType
IG 24 131 1.5e-7 SMART
IG_like 138 226 4.78e1 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,315 (GRCm39) H970R probably benign Het
Anapc1 T C 2: 128,471,469 (GRCm39) M1496V possibly damaging Het
Arhgef4 A T 1: 34,763,296 (GRCm39) T851S probably benign Het
Armh3 A G 19: 45,874,394 (GRCm39) I593T possibly damaging Het
Cacna1d A G 14: 29,773,340 (GRCm39) S1782P probably benign Het
Capn13 T A 17: 73,629,074 (GRCm39) R578* probably null Het
Casp8 A T 1: 58,883,533 (GRCm39) H280L probably damaging Het
Cenpe T A 3: 134,976,715 (GRCm39) C2441S probably damaging Het
Chn2 A T 6: 54,267,272 (GRCm39) K118* probably null Het
Chst12 G T 5: 140,510,167 (GRCm39) E265* probably null Het
Cp C A 3: 20,043,379 (GRCm39) Q22K probably benign Het
Diaph3 A T 14: 87,222,306 (GRCm39) W404R probably damaging Het
Dnajb13 T G 7: 100,160,030 (GRCm39) E69A probably damaging Het
Dzip1l A G 9: 99,549,705 (GRCm39) E725G probably damaging Het
Dzip3 T A 16: 48,774,117 (GRCm39) K373* probably null Het
Fmn1 C T 2: 113,195,266 (GRCm39) T322I unknown Het
Gbp9 T C 5: 105,233,028 (GRCm39) Y208C probably benign Het
Gtf2i T A 5: 134,289,425 (GRCm39) K418N probably damaging Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Iqcm A T 8: 76,472,914 (GRCm39) D251V probably damaging Het
Itpr3 A T 17: 27,308,885 (GRCm39) I363F possibly damaging Het
Khnyn A T 14: 56,124,660 (GRCm39) K305* probably null Het
Klf17 A G 4: 117,617,856 (GRCm39) V167A possibly damaging Het
Letm2 T C 8: 26,071,795 (GRCm39) D369G probably benign Het
Lrrc31 A G 3: 30,744,085 (GRCm39) V141A possibly damaging Het
Msh5 A T 17: 35,261,164 (GRCm39) probably null Het
Neb G A 2: 52,113,224 (GRCm39) probably benign Het
Or10j5 T A 1: 172,785,009 (GRCm39) S216T possibly damaging Het
Or2t6 A T 14: 14,175,593 (GRCm38) M163K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Padi6 T C 4: 140,469,191 (GRCm39) I50V probably benign Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Ppy A G 11: 101,991,525 (GRCm39) Y5H probably benign Het
Psmc1 T C 12: 100,081,734 (GRCm39) L112S probably damaging Het
Ptov1 A G 7: 44,515,026 (GRCm39) I195T possibly damaging Het
Rassf10 C A 7: 112,553,631 (GRCm39) D77E probably benign Het
Slc25a45 T C 19: 5,934,490 (GRCm39) S153P possibly damaging Het
Slco1a5 G A 6: 142,204,791 (GRCm39) R126C probably damaging Het
Srebf2 T C 15: 82,061,652 (GRCm39) V366A probably benign Het
St6galnac5 T C 3: 152,686,772 (GRCm39) S61G probably benign Het
Sult6b1 A T 17: 79,213,005 (GRCm39) V82D probably benign Het
Tep1 A T 14: 51,088,084 (GRCm39) C818S possibly damaging Het
Tex15 T G 8: 34,072,638 (GRCm39) F2728L possibly damaging Het
Tm9sf2 T A 14: 122,382,558 (GRCm39) F190Y probably damaging Het
Tmem175 T C 5: 108,794,298 (GRCm39) L476P probably damaging Het
Tmprss11c T C 5: 86,385,689 (GRCm39) K248R probably benign Het
Tnk2 T A 16: 32,489,668 (GRCm39) F316I probably damaging Het
Vmn2r75 T A 7: 85,813,372 (GRCm39) M477L probably benign Het
Vmn2r83 A C 10: 79,314,921 (GRCm39) I390L probably benign Het
Vmn2r88 A G 14: 51,648,603 (GRCm39) Y49C probably damaging Het
Zdhhc4 T A 5: 143,302,377 (GRCm39) I318F probably damaging Het
Zmat4 A T 8: 24,238,457 (GRCm39) D27V 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTAAAAGCCTGGTGATTAGGG -3'
(R):5'- CCCACAAACAGCTTCCTTTGG -3'

Sequencing Primer
(F):5'- GGATTGATCGGTGTCTCCTAAAAACC -3'
(R):5'- GAGATCACGGCTAAAGTATGTCTC -3'
Posted On 2017-12-01