|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 20, member 2|
|Synonyms||PiT-2, MolPit2, Ram-1, Ram1, Pit-2|
|Is this an essential gene?||Probably non essential (E-score: 0.122)|
|Stock #||R7369 (G1)|
|Chromosomal Location||22476788-22569612 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 22561400 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 483 (E483V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065935 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067786]|
|Predicted Effect||probably benign
AA Change: E483V
PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: E483V
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit brain calcifications in the thalamus, basal ganglia and cerebral cortex, microgliosis, and a high inorganic phosphate concentration [Pi] in cerebrospinal fluid. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc20a2||
(F):5'- GTGTCCTATTCCAAGAAGAGGC -3'
(R):5'- AACTCCTTCCTGTGCACTAGAC -3'
(F):5'- TATTCCAAGAAGAGGCTCCGC -3'
(R):5'- GCGTACTTCCATGCTAGCTGG -3'