Incidental Mutation 'IGL03184:Pdcd1lg2'
ID 412372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd1lg2
Ensembl Gene ENSMUSG00000016498
Gene Name programmed cell death 1 ligand 2
Synonyms B7-DC, PD-L2, F730015O22Rik, Btdc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL03184
Quality Score
Status
Chromosome 19
Chromosomal Location 29388319-29448561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29431911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 226 (F226L)
Ref Sequence ENSEMBL: ENSMUSP00000108195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112576]
AlphaFold Q9WUL5
PDB Structure Crystal structure of the receptor binding domain of mouse PD-L2 [X-RAY DIFFRACTION]
Crystal structure of the mouse PD-1 and PD-L2 complex [X-RAY DIFFRACTION]
Crystal structure of the mouse PD-1 Mutant and PD-L2 complex [X-RAY DIFFRACTION]
Crystal structure of the complex between mouse PD-1 mutant and PD-L2 IgV domain [X-RAY DIFFRACTION]
Crystal structure of the complex between the extracellular domains of mouse PD-1 mutant and PD-L2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000112576
AA Change: F226L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108195
Gene: ENSMUSG00000016498
AA Change: F226L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 27 120 4.43e-5 SMART
Pfam:Ig_3 125 196 5.3e-6 PFAM
Pfam:C2-set_2 126 202 6.6e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene have dendritic cells that display a diminished ability to activate CD4+ T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,570 (GRCm39) Y992H possibly damaging Het
Actmap A G 7: 26,896,432 (GRCm39) probably benign Het
Adcy7 T A 8: 89,035,271 (GRCm39) D58E probably benign Het
Aff2 G A X: 68,810,840 (GRCm39) V404M possibly damaging Het
Ankhd1 T A 18: 36,780,830 (GRCm39) L1961M probably damaging Het
Brms1l T C 12: 55,915,062 (GRCm39) *324Q probably null Het
Bub1b T C 2: 118,440,258 (GRCm39) probably benign Het
Cacna1b A G 2: 24,548,501 (GRCm39) probably null Het
Clrn1 T A 3: 58,753,645 (GRCm39) T239S probably benign Het
Clta T C 4: 44,025,514 (GRCm39) Y145H probably benign Het
Coro6 T C 11: 77,354,779 (GRCm39) V14A probably damaging Het
Cyp4a30b A G 4: 115,316,216 (GRCm39) D314G probably damaging Het
Fn1 T C 1: 71,648,656 (GRCm39) N1418D probably benign Het
Fshr A C 17: 89,354,068 (GRCm39) L97V possibly damaging Het
Gcm2 T C 13: 41,258,888 (GRCm39) Q152R probably damaging Het
Gcnt2 A G 13: 41,041,660 (GRCm39) N273S probably benign Het
Gm11437 A T 11: 84,047,090 (GRCm39) probably benign Het
Gm4559 A G 7: 141,828,046 (GRCm39) S19P unknown Het
Igsf8 T G 1: 172,146,199 (GRCm39) I462R probably damaging Het
Kirrel3 T C 9: 34,919,052 (GRCm39) F243S probably damaging Het
Krt80 C T 15: 101,250,135 (GRCm39) V37M probably damaging Het
Lama4 T C 10: 38,954,839 (GRCm39) Y1131H probably damaging Het
Mrpl21 T C 19: 3,342,529 (GRCm39) probably benign Het
Mtcl1 T C 17: 66,661,209 (GRCm39) N923S probably benign Het
Nectin2 G A 7: 19,472,231 (GRCm39) P53S possibly damaging Het
Nup98 G A 7: 101,832,752 (GRCm39) T335I probably damaging Het
Or2y1e C A 11: 49,218,568 (GRCm39) T110K probably damaging Het
Or4a74 T C 2: 89,439,912 (GRCm39) D178G probably damaging Het
Or4e5 A G 14: 52,728,380 (GRCm39) S14P probably benign Het
Or51a42 T A 7: 103,708,054 (GRCm39) I252F probably damaging Het
Or6c69c T C 10: 129,910,627 (GRCm39) M116T possibly damaging Het
Pcdhb14 A G 18: 37,582,085 (GRCm39) E397G probably benign Het
Pcgf5 T G 19: 36,412,076 (GRCm39) probably benign Het
Pclo C T 5: 14,764,457 (GRCm39) P1025L probably damaging Het
Pik3ca T A 3: 32,494,035 (GRCm39) S332R probably benign Het
Plek A T 11: 16,931,887 (GRCm39) D321E probably benign Het
Pm20d2 A G 4: 33,179,241 (GRCm39) F333L probably damaging Het
Polk T C 13: 96,620,491 (GRCm39) T570A probably benign Het
Rpgrip1l G A 8: 92,027,437 (GRCm39) L201F probably damaging Het
Serpinb2 T A 1: 107,452,607 (GRCm39) L395H probably damaging Het
Slc9c1 T G 16: 45,368,003 (GRCm39) S197R probably damaging Het
Smg1 T A 7: 117,779,603 (GRCm39) E1264V possibly damaging Het
Sned1 A G 1: 93,202,390 (GRCm39) D678G probably benign Het
Sorcs2 A G 5: 36,188,556 (GRCm39) S851P probably benign Het
Srcap A G 7: 127,129,674 (GRCm39) probably benign Het
Tbck T C 3: 132,441,864 (GRCm39) Y557H probably damaging Het
Tfap2d T C 1: 19,189,110 (GRCm39) S219P probably damaging Het
Trim9 T C 12: 70,297,995 (GRCm39) D570G probably damaging Het
Usp25 A G 16: 76,878,541 (GRCm39) Y655C probably damaging Het
Utrn T A 10: 12,585,910 (GRCm39) T956S probably benign Het
Vmn1r68 T A 7: 10,261,799 (GRCm39) I100F probably benign Het
Vps13a A T 19: 16,631,734 (GRCm39) S2634T probably benign Het
Zfp472 T A 17: 33,196,390 (GRCm39) L155* probably null Het
Zfp808 A G 13: 62,317,381 (GRCm39) I43M possibly damaging Het
Other mutations in Pdcd1lg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Pdcd1lg2 APN 19 29,423,462 (GRCm39) missense possibly damaging 0.96
IGL02176:Pdcd1lg2 APN 19 29,414,732 (GRCm39) missense probably benign 0.00
R4992:Pdcd1lg2 UTSW 19 29,423,484 (GRCm39) missense probably damaging 1.00
R5991:Pdcd1lg2 UTSW 19 29,431,867 (GRCm39) missense probably benign
R6006:Pdcd1lg2 UTSW 19 29,431,905 (GRCm39) missense possibly damaging 0.58
R6035:Pdcd1lg2 UTSW 19 29,423,435 (GRCm39) missense probably benign 0.08
R6035:Pdcd1lg2 UTSW 19 29,423,435 (GRCm39) missense probably benign 0.08
R6393:Pdcd1lg2 UTSW 19 29,414,698 (GRCm39) missense probably damaging 1.00
R8884:Pdcd1lg2 UTSW 19 29,423,318 (GRCm39) critical splice acceptor site probably null
R8943:Pdcd1lg2 UTSW 19 29,423,553 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02