Incidental Mutation 'R4280:Cd274'
ID 322873
Institutional Source Beutler Lab
Gene Symbol Cd274
Ensembl Gene ENSMUSG00000016496
Gene Name CD274 antigen
Synonyms Pdcd1lg1, PD-L1, B7-H1
MMRRC Submission 041648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4280 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 29344855-29365495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29357871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 188 (M188L)
Ref Sequence ENSEMBL: ENSMUSP00000016640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016640]
AlphaFold Q9EP73
Predicted Effect probably benign
Transcript: ENSMUST00000016640
AA Change: M188L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016640
Gene: ENSMUSG00000016496
AA Change: M188L

DomainStartEndE-ValueType
IG 24 131 1.5e-7 SMART
IG_like 138 226 4.78e1 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,171,185 (GRCm39) C1322R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arvcf G A 16: 18,216,741 (GRCm39) R292H probably damaging Het
Ccdc102a C A 8: 95,634,444 (GRCm39) G382* probably null Het
Cep76 T A 18: 67,773,229 (GRCm39) D23V probably benign Het
Cimip3 T C 17: 47,724,780 (GRCm39) M17V probably benign Het
Clec12a A G 6: 129,340,892 (GRCm39) Y224C probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Ctr9 A G 7: 110,645,930 (GRCm39) probably benign Het
Dgat2 A G 7: 98,808,204 (GRCm39) I157T probably damaging Het
Epha1 G T 6: 42,341,986 (GRCm39) P355T probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hephl1 A G 9: 15,023,330 (GRCm39) V24A probably benign Het
Itgb4 T A 11: 115,881,761 (GRCm39) M771K probably damaging Het
Mov10 A C 3: 104,707,095 (GRCm39) F635V probably damaging Het
Mtres1 A T 10: 43,408,905 (GRCm39) F79L probably benign Het
Or10ag60 A G 2: 87,438,595 (GRCm39) T288A possibly damaging Het
Or5an9 A G 19: 12,187,302 (GRCm39) Y124C probably damaging Het
Pbrm1 T C 14: 30,829,269 (GRCm39) probably null Het
Plscr1l1 T C 9: 92,225,701 (GRCm39) Y8H possibly damaging Het
Plxnd1 C A 6: 115,933,055 (GRCm39) probably benign Het
Plxnd1 A T 6: 115,933,056 (GRCm39) probably null Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Polq C A 16: 36,902,419 (GRCm39) Q2205K probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Pramel24 A G 4: 143,452,592 (GRCm39) T8A possibly damaging Het
Psma8 T A 18: 14,854,292 (GRCm39) D57E probably benign Het
Rbm47 T C 5: 66,183,520 (GRCm39) Y361C probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Rrp36 G A 17: 46,983,302 (GRCm39) T104I probably damaging Het
Rrs1 G A 1: 9,616,364 (GRCm39) G206S probably damaging Het
Scgb2b6 A G 7: 31,318,367 (GRCm39) noncoding transcript Het
Skint5 T A 4: 113,799,749 (GRCm39) K126I probably damaging Het
Slc38a10 C T 11: 120,028,704 (GRCm39) G202D probably damaging Het
Supt5 G A 7: 28,016,498 (GRCm39) R761W probably damaging Het
Tmtc2 A G 10: 105,184,294 (GRCm39) probably null Het
Tob1 T C 11: 94,105,148 (GRCm39) V228A probably benign Het
Traj44 T C 14: 54,411,148 (GRCm39) probably benign Het
Trps1 G A 15: 50,709,478 (GRCm39) L291F probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ush2a A G 1: 188,310,658 (GRCm39) Q2078R probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G 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
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
Predicted Primers PCR Primer
(F):5'- ACACGGCTAGCCCTAAGATG -3'
(R):5'- GCTAAATGACTATGGCGGATGG -3'

Sequencing Primer
(F):5'- AGAGCCCTGACCTCTCTTTG -3'
(R):5'- ATGGCCATCGTGCTAGGAATC -3'
Posted On 2015-06-20