Incidental Mutation 'IGL02232:Cd274'
ID285726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd274
Ensembl Gene ENSMUSG00000016496
Gene NameCD274 antigen
SynonymsPdcd1lg1, B7-H1, PD-L1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02232
Quality Score
Status
Chromosome19
Chromosomal Location29367455-29388095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29382538 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 248 (L248M)
Ref Sequence ENSEMBL: ENSMUSP00000016640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016640]
Predicted Effect probably damaging
Transcript: ENSMUST00000016640
AA Change: L248M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000016640
Gene: ENSMUSG00000016496
AA Change: L248M

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,664,525 V199A possibly damaging Het
Aco1 T C 4: 40,175,996 M210T probably damaging Het
Actr10 G A 12: 70,943,515 E114K probably benign Het
Adam6b T C 12: 113,491,144 M527T probably benign Het
Ahi1 C T 10: 20,981,375 T623M probably damaging Het
Aldh8a1 T C 10: 21,395,646 W424R probably damaging Het
Apeh A T 9: 108,091,872 S299T probably benign Het
Bbs5 A C 2: 69,655,551 I147L probably benign Het
Bmp2k T G 5: 97,031,250 probably benign Het
C2cd6 A G 1: 59,062,492 F336S probably damaging Het
Ccdc129 A G 6: 55,967,937 T548A unknown Het
Chsy3 T A 18: 59,409,311 M507K possibly damaging Het
Clip2 T C 5: 134,503,130 N572S probably damaging Het
Commd9 A G 2: 101,900,979 T170A probably benign Het
Cpt1c G A 7: 44,960,156 S674L probably damaging Het
Dhx33 C A 11: 70,987,204 R671L probably damaging Het
Dnah5 G A 15: 28,299,240 E1583K probably damaging Het
Eed G T 7: 89,972,285 N51K probably damaging Het
Efcab14 A G 4: 115,760,064 probably benign Het
Ephb2 A C 4: 136,657,451 M884R probably damaging Het
Foxn2 G T 17: 88,463,051 A109S probably benign Het
Fut1 A T 7: 45,619,447 D220V probably damaging Het
Gm6468 C T 5: 95,281,207 noncoding transcript Het
Gm7964 A T 7: 83,756,307 noncoding transcript Het
Gm9772 C T 17: 22,007,050 probably benign Het
Golph3 G T 15: 12,349,492 M199I probably benign Het
Itpr1 A G 6: 108,417,923 N1666D probably damaging Het
Kif12 C T 4: 63,166,495 E529K probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc52 T A 1: 167,466,380 N112I probably damaging Het
Msi1 T A 5: 115,441,447 probably null Het
Nasp T G 4: 116,604,800 E170A probably damaging Het
Necab2 T A 8: 119,462,652 V187E probably damaging Het
Obscn T C 11: 59,038,978 E5790G probably damaging Het
Olfr461 A G 6: 40,544,046 L311P probably damaging Het
Olfr872 A T 9: 20,260,215 D125V probably damaging Het
Pard3b C T 1: 62,166,382 T445I probably damaging Het
Pcdh10 A G 3: 45,380,942 I564V probably benign Het
Pcdhb22 T A 18: 37,520,549 L690Q probably damaging Het
Pemt T A 11: 59,976,854 T115S probably damaging Het
Plcl2 A G 17: 50,606,641 N226S possibly damaging Het
Ppp6r1 A G 7: 4,633,342 S750P probably damaging Het
Prtg T C 9: 72,851,489 V375A probably damaging Het
Psd3 A C 8: 67,904,145 M673R probably damaging Het
Ptprt T C 2: 161,530,517 I1392V probably damaging Het
Rlf G A 4: 121,182,614 T200I probably benign Het
Robo1 G A 16: 72,971,984 G479D possibly damaging Het
Rpe65 A G 3: 159,604,351 D87G possibly damaging Het
Sema3g T C 14: 31,221,224 V148A probably damaging Het
Sgms2 G A 3: 131,323,184 P341S probably benign Het
Skint7 A T 4: 111,982,028 Q173L possibly damaging Het
Slc2a9 G A 5: 38,436,670 A150V probably benign Het
Slc35c2 A G 2: 165,282,881 L58P probably damaging Het
Slc7a6 G A 8: 106,196,574 C495Y possibly damaging Het
Smurf1 G A 5: 144,886,438 P458L probably damaging Het
Spag1 C T 15: 36,221,564 T601I probably benign Het
Spink8 A T 9: 109,820,597 Q49L possibly damaging Het
Spout1 A T 2: 30,175,254 Y284N probably damaging Het
Srrm1 A T 4: 135,353,116 M1K probably null Het
Stxbp5l A G 16: 37,329,895 L116P probably damaging Het
Tlr9 T C 9: 106,224,937 F476L probably damaging Het
Tmem41b A G 7: 109,978,753 V108A probably damaging Het
Tra2b A G 16: 22,249,040 probably benign Het
Trio G T 15: 27,902,561 H271Q probably benign Het
Ttn A G 2: 76,892,919 probably benign Het
Usp51 A T X: 153,008,673 H421L probably damaging Het
Vmn2r29 A T 7: 7,241,811 W355R probably damaging Het
Vpreb1 T C 16: 16,868,739 N96D possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zp3r C A 1: 130,596,667 C213F probably damaging Het
Other mutations in Cd274
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Cd274 APN 19 29385410 makesense probably null
IGL03304:Cd274 APN 19 29384102 missense probably damaging 0.99
R1233:Cd274 UTSW 19 29373901 critical splice donor site probably null
R1356:Cd274 UTSW 19 29373570 missense possibly damaging 0.92
R1464:Cd274 UTSW 19 29382592 splice site probably benign
R1853:Cd274 UTSW 19 29380482 missense probably damaging 1.00
R4280:Cd274 UTSW 19 29380471 missense probably benign
R4283:Cd274 UTSW 19 29380471 missense probably benign
R4553:Cd274 UTSW 19 29380448 missense probably benign 0.43
R5063:Cd274 UTSW 19 29384143 missense probably damaging 0.99
R5122:Cd274 UTSW 19 29380565 missense possibly damaging 0.57
R5187:Cd274 UTSW 19 29382536 missense probably benign 0.01
R5736:Cd274 UTSW 19 29382540 missense probably benign 0.02
R6400:Cd274 UTSW 19 29385408 missense probably damaging 1.00
Posted On2015-04-16