Incidental Mutation 'IGL00226:Pdcd1'
ID2530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd1
Ensembl Gene ENSMUSG00000026285
Gene Nameprogrammed cell death 1
SynonymsPD-1, Pdc1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00226
Quality Score
Status
Chromosome1
Chromosomal Location94038305-94052553 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 94040135 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027507]
PDB Structure
CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF MURINE PD-1 [X-RAY DIFFRACTION]
Crystal Structure of the PD-1/PD-L1 Complex [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]
Crystal structure of the complex between the extracellular domains of mouse PD-1 mutant and human PD-L1 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027507
SMART Domains Protein: ENSMUSP00000027507
Gene: ENSMUSG00000026285

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 39 145 3.33e-9 SMART
transmembrane domain 170 192 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in leukopoiesis and the immune system which vary considerably depending on the genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik C A 3: 36,479,541 probably benign Het
5430419D17Rik T A 7: 131,238,094 probably null Het
Ankib1 G A 5: 3,727,573 S439L probably benign Het
Cpd G T 11: 76,797,789 H886N probably benign Het
Dhrs7 A G 12: 72,659,350 C94R probably damaging Het
Dmxl2 T A 9: 54,415,993 H1369L probably damaging Het
Dnah5 A G 15: 28,272,342 N1068S probably benign Het
Dopey1 T A 9: 86,551,679 D2329E possibly damaging Het
Eif1ad A G 19: 5,368,184 probably benign Het
Fam149a T C 8: 45,339,343 R693G probably damaging Het
Fbxw18 T A 9: 109,693,343 T153S probably benign Het
Glg1 A T 8: 111,159,849 C1104S probably damaging Het
Jak3 T C 8: 71,681,697 probably benign Het
Kctd6 C T 14: 8,222,856 R233C possibly damaging Het
Kpna3 A G 14: 61,374,288 V300A possibly damaging Het
Msh5 A T 17: 35,029,881 Y725* probably null Het
Myh2 T C 11: 67,185,233 S749P possibly damaging Het
Olfr1215 A G 2: 89,001,339 probably benign Het
Olfr199 A T 16: 59,216,496 M39K probably damaging Het
Olfr27 T A 9: 39,144,757 I219N possibly damaging Het
Olfr697 T A 7: 106,741,701 T78S probably benign Het
Pde5a T A 3: 122,794,357 F391I probably damaging Het
Ptpn12 A C 5: 20,998,668 S371A probably damaging Het
Sec16b A G 1: 157,538,330 Y254C probably damaging Het
Slc2a10 G A 2: 165,514,780 C120Y probably damaging Het
Spink5 G A 18: 43,987,871 probably benign Het
Svil A G 18: 5,099,045 Q1250R probably benign Het
Tph1 G T 7: 46,656,870 N222K probably benign Het
Vmn2r83 A T 10: 79,478,971 D351V probably damaging Het
Zfp54 A G 17: 21,433,559 D105G possibly damaging Het
Zfp623 T C 15: 75,948,203 I336T probably damaging Het
Other mutations in Pdcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Pdcd1 APN 1 94040846 missense probably benign 0.00
IGL02337:Pdcd1 APN 1 94040857 missense probably benign 0.08
IGL02750:Pdcd1 APN 1 94039544 splice site probably benign
R6720_Pdcd1_520 UTSW 1 94041389 missense probably benign 0.00
R0092:Pdcd1 UTSW 1 94052424 missense possibly damaging 0.49
R0554:Pdcd1 UTSW 1 94039382 missense probably damaging 1.00
R0931:Pdcd1 UTSW 1 94039513 missense probably benign 0.05
R3932:Pdcd1 UTSW 1 94041264 missense probably benign 0.01
R5222:Pdcd1 UTSW 1 94052450 missense probably damaging 0.99
R5914:Pdcd1 UTSW 1 94040825 missense probably benign 0.15
R6186:Pdcd1 UTSW 1 94040121 nonsense probably null
R6720:Pdcd1 UTSW 1 94041389 missense probably benign 0.00
R6844:Pdcd1 UTSW 1 94039381 missense probably benign 0.36
R8233:Pdcd1 UTSW 1 94039417 missense probably damaging 1.00
Posted On2011-12-09