Incidental Mutation 'IGL01522:Pdcd1'

• ID: 89450
• Institutional Source: Australian Phenomics Network
• Gene Symbol: Pdcd1
• Ensembl Gene: ENSMUSG00000026285
• Gene Name: programmed cell death 1
• Synonyms: Pdc1, PD-1
• Essential gene?: Possibly non essential (E-score: 0.338)
• Stock #: IGL01522
• Chromosome: 1
• Chromosomal Location: 93966027-93980278 bp(-) (GRCm39)
• Type of Mutation: missense
• DNA Base Change (assembly): T to G at 93968571 bp (GRCm39)
• Zygosity: Heterozygous
• Amino Acid Change: Arginine to Serine at position 154 (R154S)
• Ref Sequence: ENSEMBL: ENSMUSP00000027507
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000027507]
• AlphaFold: Q02242
• 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; AA Change: R154S; PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
• SMART Domains: Protein: ENSMUSP00000027507; Gene: ENSMUSG00000026285; AA Change: R154S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	39	145	3.33e-9	SMART
transmembrane domain	170	192	N/A	INTRINSIC

• 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]
• Posted On: 2013-12-03