Incidental Mutation 'R7369:Slc20a2'
ID572003
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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #R7369 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location22476788-22569612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 22561400 bp
ZygosityHeterozygous
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
Transcript: ENSMUST00000067786
AA Change: E483V

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: E483V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PHO4 24 638 1.6e-160 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (77/77)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik T A 6: 129,331,533 Q11L possibly damaging Het
A930017K11Rik G A 17: 25,947,960 S201L probably damaging Het
Ahr A T 12: 35,504,660 W487R possibly damaging Het
Apaf1 A G 10: 91,001,036 S1060P probably damaging Het
Atf7 G T 15: 102,553,809 P126H probably damaging Het
B3gnt5 C A 16: 19,769,660 Q210K probably benign Het
Begain T C 12: 109,033,927 Y306C possibly damaging Het
Car5a T C 8: 121,923,834 K157R probably benign Het
Car5b A C X: 164,014,840 S35R probably benign Het
Cdh6 A G 15: 13,042,638 V478A probably damaging Het
Cdyl A G 13: 35,816,009 E91G probably damaging Het
Cep135 A C 5: 76,593,253 K59Q possibly damaging Het
Cnot3 T A 7: 3,653,331 D205E possibly damaging Het
Dgkd G A 1: 87,921,622 G379R probably damaging Het
Dppa1 T A 11: 46,616,117 probably null Het
Dsp G T 13: 38,197,525 V2749F possibly damaging Het
E2f4 A G 8: 105,300,334 K177E probably benign Het
Efcab5 G A 11: 77,117,835 P819L possibly damaging Het
Ercc5 T A 1: 44,180,860 S1097R probably benign Het
Erp44 T C 4: 48,218,183 N162S probably benign Het
Evl A G 12: 108,686,565 Y423C unknown Het
Fam78a T A 2: 32,069,687 N137I probably damaging Het
Fcrla T G 1: 170,922,317 D57A probably benign Het
Fcrls T C 3: 87,256,701 N374D possibly damaging Het
Gm7145 A T 1: 117,986,108 H240L probably benign Het
Kdm5a T A 6: 120,432,004 N1549K possibly damaging Het
Kirrel C T 3: 87,141,084 R9H probably benign Het
Klf7 T C 1: 64,121,141 probably null Het
Lce1d G A 3: 92,686,083 Q8* probably null Het
Lcn4 T C 2: 26,667,894 H180R probably benign Het
Lmntd1 T A 6: 145,413,575 Y283F probably damaging Het
Lrp1b C T 2: 41,282,039 R1646K Het
Map3k21 C A 8: 125,911,116 A147E possibly damaging Het
Mapk8ip2 T C 15: 89,454,251 S11P probably benign Het
Mdn1 T A 4: 32,773,375 F5518L probably damaging Het
Mfsd7a A G 5: 108,445,528 V148A probably benign Het
Msh3 T A 13: 92,299,262 T510S probably benign Het
Myh1 A T 11: 67,220,698 Q1654H probably damaging Het
Ncbp3 T C 11: 73,077,921 V506A probably benign Het
Nfkbiz A G 16: 55,821,846 S70P probably damaging Het
Nmi T C 2: 51,950,084 D215G possibly damaging Het
Nphp3 T C 9: 104,018,250 S496P probably damaging Het
Nrp1 T A 8: 128,431,915 C228S probably damaging Het
Olfr787 A T 10: 129,463,521 M282L probably benign Het
Pcdh9 C A 14: 93,886,367 R789L possibly damaging Het
Pigr A T 1: 130,841,766 T105S probably benign Het
Polr2a A C 11: 69,745,977 S383A probably benign Het
Psd3 T A 8: 67,904,166 H634L possibly damaging Het
Ptgr2 T G 12: 84,292,306 probably benign Het
Ptk6 A G 2: 181,198,461 Y251H possibly damaging Het
Rnf213 A G 11: 119,430,468 T1251A Het
Rtkn2 A G 10: 68,041,429 K443E probably damaging Het
Rundc3a T A 11: 102,399,895 L268Q probably damaging Het
Serpinb5 A G 1: 106,875,149 E138G probably benign Het
Shroom1 A T 11: 53,465,248 D375V probably benign Het
Siglecf A G 7: 43,351,817 T70A probably damaging Het
Sort1 G A 3: 108,351,680 G676D probably damaging Het
Spef2 T C 15: 9,584,207 S1581G probably benign Het
Stx6 C T 1: 155,197,384 R214* probably null Het
Stxbp5l A G 16: 37,134,341 I950T probably benign Het
Tdrd7 T A 4: 46,013,239 C660S possibly damaging Het
Tgm4 T A 9: 123,056,684 probably null Het
Thap8 C T 7: 30,289,952 L196F unknown Het
Tmem67 T C 4: 12,053,535 Y671C probably damaging Het
Ttc6 A T 12: 57,672,931 probably null Het
Uba2 A G 7: 34,150,814 S405P possibly damaging Het
Usp34 T C 11: 23,432,361 I2043T Het
Vmn1r12 T A 6: 57,159,698 I260N possibly damaging Het
Vmn1r172 C T 7: 23,660,605 T305I unknown Het
Vmn2r24 T C 6: 123,815,679 V655A probably damaging Het
Wdr33 T C 18: 31,886,666 S464P probably benign Het
Zcchc6 A G 13: 59,782,053 I1458T possibly damaging Het
Zfp260 T A 7: 30,105,325 C217S probably damaging Het
Zfp760 A G 17: 21,723,233 E463G probably benign Het
Zhx1 A G 15: 58,053,300 Y517H 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
PIT4453001:Slc20a2 UTSW 8 22535382 missense probably damaging 1.00
R0015:Slc20a2 UTSW 8 22535345 missense probably damaging 1.00
R0015:Slc20a2 UTSW 8 22535345 missense probably damaging 1.00
R0385:Slc20a2 UTSW 8 22568393 missense probably benign 0.10
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
R7756:Slc20a2 UTSW 8 22535492 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTCCTATTCCAAGAAGAGGC -3'
(R):5'- AACTCCTTCCTGTGCACTAGAC -3'

Sequencing Primer
(F):5'- TATTCCAAGAAGAGGCTCCGC -3'
(R):5'- GCGTACTTCCATGCTAGCTGG -3'
Posted On2019-09-13