|Institutional Source||Beutler Lab|
|Gene Name||programmed cell death 1|
|Is this an essential gene?||Probably non essential (E-score: 0.055)|
|Stock #||R8233 (G1)|
|Chromosomal Location||94038305-94052553 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 94039417 bp|
|Amino Acid Change||Valine to Alanine at position 252 (V252A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027507 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027507]|
|Predicted Effect||probably damaging
AA Change: V252A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V252A
|Coding Region Coverage||
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'- AACTGTAGCCTGCATGCTCC -3'
(R):5'- TTATGGGATGCACACACCACC -3'
(F):5'- TCTTGACTGAGGGACGGAC -3'
(R):5'- CCCCCAACTGACTATAACAATGG -3'