Incidental Mutation 'R7966:Pdcd1'

• ID: 650349
• Institutional Source: Beutler Lab
• Gene Symbol: Pdcd1
• Ensembl Gene: ENSMUSG00000026285
• Gene Name: programmed cell death 1
• Synonyms: Pdc1, PD-1
• MMRRC Submission: 046009-MU
• Essential gene?: Possibly non essential (E-score: 0.339)
• Stock #: R7966 (G1)
• Quality Score: 225.009
• Status: Validated
• Chromosome: 1
• Chromosomal Location: 93966027-93980278 bp(-) (GRCm39)
• Type of Mutation: missense
• DNA Base Change (assembly): A to T at 93969186 bp (GRCm39)
• Zygosity: Heterozygous
• Amino Acid Change: Valine to Glutamic Acid at position 44 (V44E)
• 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 damaging; Transcript: ENSMUST00000027507; AA Change: V44E; PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
• SMART Domains: Protein: ENSMUSP00000027507; Gene: ENSMUSG00000026285; AA Change: V44E

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

• Meta Mutation Damage Score: 0.8279
• Coding Region Coverage:
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
• Validation Efficiency: 98% (52/53)
• 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: 2020-09-15

Predicted Primers

PCR Primer
(F):5'- AGATGCCACTGTCATTGCG -3'
(R):5'- ACGATATTCTGCCCTGGAATGG -3'

Sequencing Primer
(F):5'- CAAGGATGTTCATGTGGAAGTCATGC -3'
(R):5'- AATGGGTCTGAGAGCACATTCCTC -3'