Incidental Mutation 'R9649:Slc20a2'
ID 726956
Institutional Source Beutler Lab
Gene Symbol Slc20a2
Ensembl Gene ENSMUSG00000037656
Gene Name solute carrier family 20, member 2
Synonyms Pit-2, PiT-2, MolPit2, Ram1, Ram-1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R9649 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 22966804-23059628 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23028900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 124 (G124S)
Ref Sequence ENSEMBL: ENSMUSP00000065935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067786] [ENSMUST00000209305] [ENSMUST00000210854]
AlphaFold Q80UP8
Predicted Effect probably damaging
Transcript: ENSMUST00000067786
AA Change: G124S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: G124S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PHO4 24 638 1.6e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209305
Predicted Effect probably benign
Transcript: ENSMUST00000210854
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010B08Rik A T 2: 173,561,706 (GRCm39) H5L unknown Het
Aatk A G 11: 119,901,733 (GRCm39) S888P probably damaging Het
Ahnak A T 19: 8,985,786 (GRCm39) K2357* probably null Het
Arl9 T A 5: 77,155,139 (GRCm39) L90Q probably damaging Het
Atosa A G 9: 74,924,349 (GRCm39) D864G possibly damaging Het
Atxn2 T C 5: 121,949,055 (GRCm39) V1144A probably damaging Het
Batf3 C T 1: 190,830,623 (GRCm39) probably benign Het
Bltp3b C A 10: 89,626,593 (GRCm39) T429K probably benign Het
Brpf3 G A 17: 29,037,597 (GRCm39) E822K probably benign Het
Cabin1 T A 10: 75,575,239 (GRCm39) Q602L probably damaging Het
Cadps T C 14: 12,597,418 (GRCm38) E424G probably damaging Het
Camta1 A G 4: 151,216,004 (GRCm39) L972P possibly damaging Het
Ccdc159 A G 9: 21,840,672 (GRCm39) N80D possibly damaging Het
Cdh1 A C 8: 107,388,604 (GRCm39) E553D possibly damaging Het
Cdk14 T A 5: 5,423,477 (GRCm39) E35V probably benign Het
Cfap70 A G 14: 20,450,546 (GRCm39) L995P probably damaging Het
Col18a1 T A 10: 76,916,673 (GRCm39) E334V unknown Het
Colec12 T A 18: 9,877,000 (GRCm39) I741K unknown Het
Crot A G 5: 9,024,170 (GRCm39) V342A probably benign Het
Ctnnal1 A G 4: 56,865,036 (GRCm39) S27P possibly damaging Het
Cyp2j9 A G 4: 96,460,193 (GRCm39) S437P probably damaging Het
Dennd4c A T 4: 86,743,160 (GRCm39) T1001S probably benign Het
Dffa G A 4: 149,202,276 (GRCm39) V227I probably benign Het
Dnaaf5 T A 5: 139,159,909 (GRCm39) H602Q probably benign Het
Efcab7 G T 4: 99,761,902 (GRCm39) K397N probably damaging Het
Egfl6 C T X: 165,319,235 (GRCm39) V379I probably benign Het
Fadd G A 7: 144,134,384 (GRCm39) T167I probably benign Het
Fam184b T C 5: 45,796,484 (GRCm39) D33G probably damaging Het
Fam237b C T 5: 5,625,549 (GRCm39) Q82* probably null Het
Fam83h G A 15: 75,877,976 (GRCm39) R141W probably damaging Het
Fanci G A 7: 79,076,954 (GRCm39) R564Q probably damaging Het
Fat3 A T 9: 15,908,054 (GRCm39) D2649E possibly damaging Het
Fcrl1 A G 3: 87,291,918 (GRCm39) T46A possibly damaging Het
Fig4 C T 10: 41,143,763 (GRCm39) G232D probably benign Het
Frem3 A T 8: 81,341,145 (GRCm39) H1146L probably damaging Het
Fyttd1 T A 16: 32,715,472 (GRCm39) F133L probably benign Het
Gata2 A G 6: 88,179,505 (GRCm39) N326D probably damaging Het
Gm7298 A T 6: 121,764,491 (GRCm39) T1457S probably damaging Het
Hdac1-ps A T 17: 78,799,075 (GRCm39) Y22F probably benign Het
Heatr5b C T 17: 79,141,524 (GRCm39) probably null Het
Hfm1 T A 5: 107,066,329 (GRCm39) D33V possibly damaging Het
Hmcn2 G A 2: 31,292,450 (GRCm39) A2447T possibly damaging Het
Hs3st3b1 A G 11: 63,812,331 (GRCm39) F128S probably benign Het
Hs3st6 G T 17: 24,972,226 (GRCm39) R56L possibly damaging Het
Hsd17b3 C T 13: 64,212,171 (GRCm39) M168I probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Itgb4 A T 11: 115,885,171 (GRCm39) I1018F possibly damaging Het
Itih3 T C 14: 30,637,605 (GRCm39) D518G possibly damaging Het
Kcnma1 C T 14: 23,501,666 (GRCm39) probably null Het
Klhl11 A T 11: 100,363,506 (GRCm39) S17T probably benign Het
Lilra6 T C 7: 3,917,521 (GRCm39) E158G possibly damaging Het
Loxl1 A G 9: 58,220,037 (GRCm39) W45R probably damaging Het
Lratd1 T C 12: 14,200,190 (GRCm39) N179S probably benign Het
Lrfn1 G T 7: 28,166,255 (GRCm39) V550F probably damaging Het
Lrp1 T C 10: 127,409,368 (GRCm39) K1584E probably benign Het
Lrp4 C G 2: 91,338,914 (GRCm39) P1782A possibly damaging Het
Map3k1 A G 13: 111,885,478 (GRCm39) S1480P probably damaging Het
Mark4 G T 7: 19,160,015 (GRCm39) N748K probably benign Het
Mrpl38 G A 11: 116,025,900 (GRCm39) T142M probably damaging Het
Mrpl41 T C 2: 24,864,481 (GRCm39) T64A probably benign Het
Mrps2 G A 2: 28,359,764 (GRCm39) R207K possibly damaging Het
Myo5a A T 9: 75,099,726 (GRCm39) E96D Het
Nbas A T 12: 13,633,417 (GRCm39) E2274V probably damaging Het
Or4x13 T C 2: 90,231,338 (GRCm39) F111S probably damaging Het
Or51a8 T C 7: 102,549,652 (GRCm39) I26T probably benign Het
Or51ac3 T C 7: 103,213,850 (GRCm39) D212G probably damaging Het
Or5m10b T C 2: 85,699,278 (GRCm39) L114P possibly damaging Het
Or5m10b T A 2: 85,699,819 (GRCm39) N294K probably damaging Het
Or6c35 T A 10: 129,169,368 (GRCm39) I206N possibly damaging Het
Pcdhga12 T A 18: 37,900,288 (GRCm39) D373E probably damaging Het
Pgd A C 4: 149,235,596 (GRCm39) F395V probably damaging Het
Pi16 A G 17: 29,538,363 (GRCm39) M59V possibly damaging Het
Pik3r5 A T 11: 68,381,720 (GRCm39) T255S probably benign Het
Plch2 A T 4: 155,068,516 (GRCm39) V1370E probably benign Het
Plec A G 15: 76,067,153 (GRCm39) I1309T unknown Het
Ppp2r3d A T 9: 124,440,831 (GRCm38) S22R Het
Pramel26 A G 4: 143,542,609 (GRCm39) C4R probably damaging Het
Ptk2b C A 14: 66,413,154 (GRCm39) E342* probably null Het
Ptpn23 T C 9: 110,215,226 (GRCm39) probably null Het
Rfx8 A C 1: 39,722,850 (GRCm39) S256A probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rnf213 A G 11: 119,370,457 (GRCm39) Y4753C Het
S100a10 A C 3: 93,471,590 (GRCm39) D58A possibly damaging Het
Serpina12 T C 12: 104,004,317 (GRCm39) K105R probably benign Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Stard9 C A 2: 120,526,635 (GRCm39) T964N probably benign Het
Stxbp5 T A 10: 9,774,938 (GRCm39) I72F probably damaging Het
Sumf2 T A 5: 129,891,482 (GRCm39) M282K possibly damaging Het
Tle7 T C 8: 110,837,580 (GRCm39) F375L probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem185b G T 1: 119,454,613 (GRCm39) V125L probably benign Het
Tmtc1 A G 6: 148,144,714 (GRCm39) M887T probably damaging Het
Tnfaip8 C T 18: 50,223,512 (GRCm39) Q83* probably null Het
Tnks A G 8: 35,306,089 (GRCm39) V1162A probably damaging Het
Tomm70a T A 16: 56,961,072 (GRCm39) Y342N possibly damaging Het
Tpo T A 12: 30,125,875 (GRCm39) D828V probably damaging Het
Ugt8a A T 3: 125,708,338 (GRCm39) N257K probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vim T A 2: 13,579,703 (GRCm39) M154K probably damaging Het
Virma G T 4: 11,486,045 (GRCm39) M1I probably null Het
Zfp715 A T 7: 42,950,653 (GRCm39) M100K probably benign Het
Zfp748 A T 13: 67,690,647 (GRCm39) C204* probably null Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E probably damaging Het
Other mutations in Slc20a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Slc20a2 APN 8 23,025,573 (GRCm39) missense possibly damaging 0.66
IGL03248:Slc20a2 APN 8 23,048,999 (GRCm39) missense probably benign 0.05
PIT4453001:Slc20a2 UTSW 8 23,025,398 (GRCm39) missense probably damaging 1.00
R0015:Slc20a2 UTSW 8 23,025,361 (GRCm39) missense probably damaging 1.00
R0015:Slc20a2 UTSW 8 23,025,361 (GRCm39) missense probably damaging 1.00
R0385:Slc20a2 UTSW 8 23,058,409 (GRCm39) missense probably benign 0.10
R1679:Slc20a2 UTSW 8 23,028,846 (GRCm39) missense possibly damaging 0.87
R1737:Slc20a2 UTSW 8 23,035,582 (GRCm39) missense probably damaging 1.00
R1966:Slc20a2 UTSW 8 23,035,553 (GRCm39) missense probably damaging 1.00
R2217:Slc20a2 UTSW 8 23,050,532 (GRCm39) missense probably benign 0.12
R3821:Slc20a2 UTSW 8 23,028,918 (GRCm39) missense probably benign
R3878:Slc20a2 UTSW 8 23,058,399 (GRCm39) missense possibly damaging 0.91
R4284:Slc20a2 UTSW 8 23,051,365 (GRCm39) missense probably benign
R4285:Slc20a2 UTSW 8 23,051,365 (GRCm39) missense probably benign
R4915:Slc20a2 UTSW 8 23,051,020 (GRCm39) missense probably damaging 1.00
R4916:Slc20a2 UTSW 8 23,051,020 (GRCm39) missense probably damaging 1.00
R4918:Slc20a2 UTSW 8 23,051,020 (GRCm39) missense probably damaging 1.00
R4938:Slc20a2 UTSW 8 23,051,221 (GRCm39) missense possibly damaging 0.69
R6374:Slc20a2 UTSW 8 23,055,668 (GRCm39) missense possibly damaging 0.94
R6894:Slc20a2 UTSW 8 23,050,609 (GRCm39) missense possibly damaging 0.70
R7369:Slc20a2 UTSW 8 23,051,416 (GRCm39) missense probably benign 0.08
R7756:Slc20a2 UTSW 8 23,025,508 (GRCm39) missense probably damaging 1.00
R7889:Slc20a2 UTSW 8 23,030,417 (GRCm39) missense probably damaging 1.00
R8971:Slc20a2 UTSW 8 23,030,396 (GRCm39) missense probably damaging 1.00
R9110:Slc20a2 UTSW 8 23,025,457 (GRCm39) missense probably damaging 0.98
R9145:Slc20a2 UTSW 8 23,030,447 (GRCm39) missense probably benign 0.00
R9433:Slc20a2 UTSW 8 23,051,211 (GRCm39) nonsense probably null
R9778:Slc20a2 UTSW 8 23,051,407 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGGGTACATTGTCGATGC -3'
(R):5'- TGACATGTAAACAGTGGCCTTG -3'

Sequencing Primer
(F):5'- GGGTACATTGTCGATGCTCTCC -3'
(R):5'- GGTCTAAACCTTACCATCTGGGG -3'
Posted On 2022-10-06