Incidental Mutation 'IGL03184:Pdcd1lg2'
ID412372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd1lg2
Ensembl Gene ENSMUSG00000016498
Gene Nameprogrammed cell death 1 ligand 2
SynonymsPD-L2, B7-DC, Btdc, F730015O22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL03184
Quality Score
Status
Chromosome19
Chromosomal Location29410919-29471157 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 29454511 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 226 (F226L)
Ref Sequence ENSEMBL: ENSMUSP00000108195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112576]
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: 77,323,451 Y992H possibly damaging Het
Adcy7 T A 8: 88,308,643 D58E probably benign Het
Aff2 G A X: 69,767,234 V404M possibly damaging Het
Ankhd1 T A 18: 36,647,777 L1961M probably damaging Het
BC024978 A G 7: 27,197,007 probably benign Het
Brms1l T C 12: 55,868,277 *324Q probably null Het
Bub1b T C 2: 118,609,777 probably benign Het
Cacna1b A G 2: 24,658,489 probably null Het
Clrn1 T A 3: 58,846,224 T239S probably benign Het
Clta T C 4: 44,025,514 Y145H probably benign Het
Coro6 T C 11: 77,463,953 V14A probably damaging Het
Cyp4a30b A G 4: 115,459,019 D314G probably damaging Het
Fn1 T C 1: 71,609,497 N1418D probably benign Het
Fshr A C 17: 89,046,640 L97V possibly damaging Het
Gcm2 T C 13: 41,105,412 Q152R probably damaging Het
Gcnt2 A G 13: 40,888,184 N273S probably benign Het
Gm11437 A T 11: 84,156,264 probably benign Het
Gm4559 A G 7: 142,274,309 S19P unknown Het
Igsf8 T G 1: 172,318,632 I462R probably damaging Het
Kirrel3 T C 9: 35,007,756 F243S probably damaging Het
Krt80 C T 15: 101,352,254 V37M probably damaging Het
Lama4 T C 10: 39,078,843 Y1131H probably damaging Het
Mrpl21 T C 19: 3,292,529 probably benign Het
Mtcl1 T C 17: 66,354,214 N923S probably benign Het
Nectin2 G A 7: 19,738,306 P53S possibly damaging Het
Nup98 G A 7: 102,183,545 T335I probably damaging Het
Olfr1247 T C 2: 89,609,568 D178G probably damaging Het
Olfr1391 C A 11: 49,327,741 T110K probably damaging Het
Olfr1507 A G 14: 52,490,923 S14P probably benign Het
Olfr643 T A 7: 104,058,847 I252F probably damaging Het
Olfr822 T C 10: 130,074,758 M116T possibly damaging Het
Pcdhb14 A G 18: 37,449,032 E397G probably benign Het
Pcgf5 T G 19: 36,434,676 probably benign Het
Pclo C T 5: 14,714,443 P1025L probably damaging Het
Pik3ca T A 3: 32,439,886 S332R probably benign Het
Plek A T 11: 16,981,887 D321E probably benign Het
Pm20d2 A G 4: 33,179,241 F333L probably damaging Het
Polk T C 13: 96,483,983 T570A probably benign Het
Rpgrip1l G A 8: 91,300,809 L201F probably damaging Het
Serpinb2 T A 1: 107,524,877 L395H probably damaging Het
Slc9c1 T G 16: 45,547,640 S197R probably damaging Het
Smg1 T A 7: 118,180,380 E1264V possibly damaging Het
Sned1 A G 1: 93,274,668 D678G probably benign Het
Sorcs2 A G 5: 36,031,212 S851P probably benign Het
Srcap A G 7: 127,530,502 probably benign Het
Tbck T C 3: 132,736,103 Y557H probably damaging Het
Tfap2d T C 1: 19,118,886 S219P probably damaging Het
Trim9 T C 12: 70,251,221 D570G probably damaging Het
Usp25 A G 16: 77,081,653 Y655C probably damaging Het
Utrn T A 10: 12,710,166 T956S probably benign Het
Vmn1r68 T A 7: 10,527,872 I100F probably benign Het
Vps13a A T 19: 16,654,370 S2634T probably benign Het
Zfp472 T A 17: 32,977,416 L155* probably null Het
Zfp808 A G 13: 62,169,567 I43M possibly damaging Het
Other mutations in Pdcd1lg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Pdcd1lg2 APN 19 29446062 missense possibly damaging 0.96
IGL02176:Pdcd1lg2 APN 19 29437332 missense probably benign 0.00
R4992:Pdcd1lg2 UTSW 19 29446084 missense probably damaging 1.00
R5991:Pdcd1lg2 UTSW 19 29454467 missense probably benign
R6006:Pdcd1lg2 UTSW 19 29454505 missense possibly damaging 0.58
R6035:Pdcd1lg2 UTSW 19 29446035 missense probably benign 0.08
R6035:Pdcd1lg2 UTSW 19 29446035 missense probably benign 0.08
R6393:Pdcd1lg2 UTSW 19 29437298 missense probably damaging 1.00
Posted On2016-08-02