Incidental Mutation 'R0385:Slc20a2'
ID31228
Institutional Source Beutler Lab
Gene Symbol Slc20a2
Ensembl Gene ENSMUSG00000037656
Gene Namesolute carrier family 20, member 2
SynonymsPiT-2, MolPit2, Ram-1, Ram1, Pit-2
MMRRC Submission 038591-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.192) question?
Stock #R0385 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location22476788-22569612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22568393 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 648 (I648M)
Ref Sequence ENSEMBL: ENSMUSP00000065935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067786]
Predicted Effect probably benign
Transcript: ENSMUST00000067786
AA Change: I648M

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: I648M

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PHO4 24 638 1.6e-160 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype 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
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,231,748 N331S probably benign Het
Adk A G 14: 21,318,074 N189S probably benign Het
Apc T A 18: 34,315,944 N1930K probably damaging Het
Arhgap28 T C 17: 67,864,606 D391G probably damaging Het
Atn1 G T 6: 124,743,371 probably benign Het
C2cd5 T C 6: 143,041,490 E471G probably damaging Het
Camta1 C A 4: 151,075,140 R1614L probably damaging Het
Cap2 T C 13: 46,560,547 L34P probably damaging Het
Cdc42ep2 T A 19: 5,918,525 M51L probably benign Het
Cntn5 C T 9: 9,972,870 A254T probably damaging Het
Dicer1 A T 12: 104,704,174 L1044H probably damaging Het
Dkk3 A C 7: 112,158,223 M58R probably damaging Het
Dpy19l3 G A 7: 35,752,705 R5W probably damaging Het
Dsg1c C T 18: 20,283,654 P871S probably damaging Het
Dusp1 A T 17: 26,507,696 S131T probably benign Het
Enpp2 C T 15: 54,882,159 G314R probably damaging Het
Fam222b C A 11: 78,154,930 P439Q probably benign Het
Fastkd2 A T 1: 63,737,811 I369F probably benign Het
Fdps G A 3: 89,094,894 S205F probably damaging Het
Fmo1 A T 1: 162,836,204 V252E possibly damaging Het
Frmd5 A G 2: 121,555,574 Y230H probably damaging Het
Gal C T 19: 3,411,171 V88I probably benign Het
Gm38394 A T 1: 133,656,784 D938E probably damaging Het
Gnptab T C 10: 88,436,525 I1009T probably damaging Het
Idh2 C T 7: 80,098,257 A232T probably damaging Het
Klhdc7a A T 4: 139,966,705 D310E probably benign Het
Klk4 T C 7: 43,884,008 M97T probably benign Het
Krt82 C T 15: 101,545,593 V227M probably damaging Het
Lpp T C 16: 24,761,837 V226A probably damaging Het
Mbd1 AGCTGACTCGGTAC A 18: 74,273,241 probably null Het
Mcm10 T C 2: 5,004,154 K335E possibly damaging Het
Mpv17l A T 16: 13,940,999 I96L probably benign Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Myb T C 10: 21,154,712 D62G possibly damaging Het
Nasp A T 4: 116,610,695 N364K probably benign Het
Npsr1 A G 9: 24,313,277 N317D probably damaging Het
Nup210 A G 6: 91,028,795 V619A possibly damaging Het
Oser1 C T 2: 163,411,396 probably null Het
Pcdhb4 T C 18: 37,309,215 F526S probably damaging Het
Plekhh3 T C 11: 101,165,141 N444S probably damaging Het
Pnpla5 G T 15: 84,120,719 L144M probably damaging Het
Pou2f2 G A 7: 25,116,076 Q89* probably null Het
Ptprb A G 10: 116,350,178 I1713V probably benign Het
Ptprd A G 4: 76,128,665 Y442H probably damaging Het
Rad21 A T 15: 51,973,863 I152N possibly damaging Het
Ralgapa1 A G 12: 55,677,038 S1568P probably damaging Het
Rhag T A 17: 40,834,727 V357E probably damaging Het
Rnf121 A T 7: 102,029,117 D174E possibly damaging Het
Sdccag3 T C 2: 26,387,659 E41G possibly damaging Het
Sf3b4 T C 3: 96,172,982 Y16H probably damaging Het
Slc1a3 C T 15: 8,639,135 V449I probably damaging Het
Slc25a25 T A 2: 32,417,822 I254F probably damaging Het
Slit3 A G 11: 35,700,282 H1307R probably damaging Het
Sorl1 C A 9: 42,031,909 M890I probably damaging Het
Supt16 A C 14: 52,176,718 M468R probably benign Het
Taf4b T C 18: 14,783,760 S56P probably benign Het
Tapt1 T C 5: 44,218,101 probably null Het
Tmco3 T G 8: 13,296,027 C288W probably damaging Het
Tpcn2 A G 7: 145,277,174 Y145H probably damaging Het
Ttn C T 2: 76,881,717 probably benign Het
Usb1 G T 8: 95,345,318 W215C probably damaging Het
Usp2 C G 9: 44,092,750 T305R probably damaging Het
Vmn1r13 G A 6: 57,210,705 S283N probably benign Het
Vps54 A G 11: 21,306,381 K467E possibly damaging Het
Wnk2 G T 13: 49,068,128 S1121Y probably damaging Het
Other mutations in Slc20a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Slc20a2 APN 8 22535557 missense possibly damaging 0.66
IGL03248:Slc20a2 APN 8 22558983 missense probably benign 0.05
R0015:Slc20a2 UTSW 8 22535345 missense probably damaging 1.00
R0015:Slc20a2 UTSW 8 22535345 missense probably damaging 1.00
R1679:Slc20a2 UTSW 8 22538830 missense possibly damaging 0.87
R1737:Slc20a2 UTSW 8 22545566 missense probably damaging 1.00
R1966:Slc20a2 UTSW 8 22545537 missense probably damaging 1.00
R2217:Slc20a2 UTSW 8 22560516 missense probably benign 0.12
R3821:Slc20a2 UTSW 8 22538902 missense probably benign
R3878:Slc20a2 UTSW 8 22568383 missense possibly damaging 0.91
R4284:Slc20a2 UTSW 8 22561349 missense probably benign
R4285:Slc20a2 UTSW 8 22561349 missense probably benign
R4915:Slc20a2 UTSW 8 22561004 missense probably damaging 1.00
R4916:Slc20a2 UTSW 8 22561004 missense probably damaging 1.00
R4918:Slc20a2 UTSW 8 22561004 missense probably damaging 1.00
R4938:Slc20a2 UTSW 8 22561205 missense possibly damaging 0.69
R6374:Slc20a2 UTSW 8 22565652 missense possibly damaging 0.94
R6894:Slc20a2 UTSW 8 22560593 missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TTTCAGTCCTCAAACGCAGCCC -3'
(R):5'- ACAGCATCAGCTCGATGTATGCTAC -3'

Sequencing Primer
(F):5'- AGCCCGGCAGAAATGTTCTC -3'
(R):5'- GCTCGATGTATGCTACTATGTACAG -3'
Posted On2013-04-24