|Institutional Source||Beutler Lab|
|Gene Name||ectonucleotide pyrophosphatase/phosphodiesterase 3|
|Is this an essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R5276 (G1)|
|Chromosomal Location||24772406-24842823 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 24809916 bp|
|Amino Acid Change||Serine to Proline at position 194 (S194P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020169 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000219342]|
|Predicted Effect||probably damaging
AA Change: S194P
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: S194P
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: S29P
PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit increased numbers of basophils and mast cells with increased susceptibility to chronic allergic responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Enpp3||
(F):5'- TGGATAGAGAACACCGAGCC -3'
(R):5'- AAAGCCCATTTGACTCCCAG -3'
(F):5'- AGCCTGGATTCAGTGGTGCAC -3'
(R):5'- GCCCATTTGACTCCCAGAAATGG -3'