|Institutional Source||Beutler Lab|
|Gene Name||programmed cell death 1|
|Is this an essential gene?||Probably non essential (E-score: 0.056)|
|Stock #||R8387 (G1)|
|Chromosomal Location||94038305-94052553 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 94041468 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 42 (L42F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027507 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027507]|
|Predicted Effect||probably damaging
AA Change: L42F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L42F
|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'- TAGATGCCACTGTCATTGCG -3'
(R):5'- GCTTACGATATTCTGCCCTGG -3'
(F):5'- CAAGGATGTTCATGTGGAAGTCATGC -3'
(R):5'- ACGATATTCTGCCCTGGAATGG -3'