|Institutional Source||Beutler Lab|
|Gene Name||programmed cell death 1|
|Is this an essential gene?||Probably non essential (E-score: 0.060)|
|Stock #||R3932 (G1)|
|Chromosomal Location||94038305-94052553 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 94041264 bp|
|Amino Acid Change||Isoleucine to Valine at position 110 (I110V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027507 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027507]|
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
AA Change: I110V
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: I110V
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
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||
|Other mutations in Pdcd1||
(F):5'- CAGTGTCGTCAAGGCTCTAG -3'
(R):5'- TGTCAGAGGGAGCAAATGCC -3'
(F):5'- CAGAGCCATGGCAGAGAGC -3'
(R):5'- GAGGGAGCAAATGCCACCTTC -3'