Incidental Mutation 'R2107:Slc34a3'
ID 232144
Institutional Source Beutler Lab
Gene Symbol Slc34a3
Ensembl Gene ENSMUSG00000006469
Gene Name solute carrier family 34 (sodium phosphate), member 3
Synonyms Npt2c, NPTIIc
MMRRC Submission 040111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R2107 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25118909-25124282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25120999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 363 (V363D)
Ref Sequence ENSEMBL: ENSMUSP00000006638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000091318] [ENSMUST00000205192]
AlphaFold Q80SU6
Predicted Effect probably damaging
Transcript: ENSMUST00000006638
AA Change: V363D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469
AA Change: V363D

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 84 231 1.8e-25 PFAM
low complexity region 254 269 N/A INTRINSIC
Pfam:Na_Pi_cotrans 337 538 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091318
SMART Domains Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091318
SMART Domains Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152997
Predicted Effect probably benign
Transcript: ENSMUST00000205192
SMART Domains Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155420
Meta Mutation Damage Score 0.3892 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification, rickets, or osteomalacia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,685,744 (GRCm39) L364Q probably damaging Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Acp2 G A 2: 91,033,940 (GRCm39) probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Cblb T A 16: 51,973,079 (GRCm39) probably null Het
Ccdc88c G T 12: 100,887,808 (GRCm39) D1557E probably benign Het
Cdc20 T C 4: 118,290,710 (GRCm39) Y430C probably damaging Het
Cdk5rap1 C T 2: 154,195,166 (GRCm39) D350N probably benign Het
Cgrrf1 T A 14: 47,090,833 (GRCm39) probably benign Het
Chia1 T A 3: 106,036,156 (GRCm39) Y185* probably null Het
Cmtm8 A T 9: 114,625,176 (GRCm39) V85D possibly damaging Het
Cplx4 A G 18: 66,089,964 (GRCm39) S152P probably benign Het
Crmp1 G T 5: 37,399,838 (GRCm39) R117L probably benign Het
Csad G C 15: 102,087,469 (GRCm39) L365V probably null Het
Dyrk1a C T 16: 94,487,386 (GRCm39) T532M probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fan1 T G 7: 64,016,536 (GRCm39) R529S probably damaging Het
Fbln5 A G 12: 101,737,528 (GRCm39) W173R probably damaging Het
Gm9611 A T 14: 42,116,611 (GRCm39) N42K possibly damaging Het
Gnal T A 18: 67,346,649 (GRCm39) L257Q probably damaging Het
Hint3 A T 10: 30,494,252 (GRCm39) F33I probably damaging Het
Ipcef1 A G 10: 6,840,501 (GRCm39) S403P probably benign Het
Kmt2c T C 5: 25,514,822 (GRCm39) N3007S probably benign Het
Kpna3 T C 14: 61,607,933 (GRCm39) D424G possibly damaging Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lamc2 A G 1: 153,030,132 (GRCm39) probably benign Het
Lmtk3 G T 7: 45,443,393 (GRCm39) C692F possibly damaging Het
Lrguk T C 6: 34,039,296 (GRCm39) M269T probably benign Het
Lrrc19 T A 4: 94,527,531 (GRCm39) T227S probably benign Het
Lrrk1 C A 7: 65,929,030 (GRCm39) D1201Y probably damaging Het
Matn2 T A 15: 34,423,905 (GRCm39) Y588N probably damaging Het
Mmp1b A G 9: 7,369,310 (GRCm39) W346R probably damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nedd9 A T 13: 41,492,455 (GRCm39) C12* probably null Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nisch C T 14: 30,894,097 (GRCm39) V172I probably damaging Het
Npy2r A T 3: 82,448,436 (GRCm39) probably null Het
Ogg1 C A 6: 113,306,254 (GRCm39) N150K probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or1p1 T C 11: 74,180,216 (GRCm39) V248A probably damaging Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Pck1 G C 2: 172,995,861 (GRCm39) E120Q probably benign Het
Pde11a A G 2: 76,168,266 (GRCm39) V229A probably damaging Het
Pias2 T C 18: 77,185,167 (GRCm39) F83L probably benign Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Plin3 A T 17: 56,591,391 (GRCm39) S130T probably benign Het
Rcc2 A G 4: 140,448,496 (GRCm39) Y515C probably damaging Het
Rgs12 A G 5: 35,124,079 (GRCm39) K621E possibly damaging Het
Rnf6 G A 5: 146,148,091 (GRCm39) T309I probably damaging Het
Rpusd3 G T 6: 113,392,523 (GRCm39) T335N probably damaging Het
Scn8a A T 15: 100,916,244 (GRCm39) I1218F probably damaging Het
Slc23a1 T A 18: 35,758,879 (GRCm39) Q104L possibly damaging Het
Smap1 A T 1: 23,887,535 (GRCm39) M248K possibly damaging Het
Sp1 A G 15: 102,318,113 (GRCm39) probably null Het
Tasor T A 14: 27,183,744 (GRCm39) probably null Het
Tbc1d1 T G 5: 64,442,048 (GRCm39) N689K probably benign Het
Tff2 T C 17: 31,361,256 (GRCm39) E99G possibly damaging Het
Tjp3 T C 10: 81,116,378 (GRCm39) N239D possibly damaging Het
Trim37 G A 11: 87,050,651 (GRCm39) R230Q probably benign Het
Ubr5 A G 15: 37,989,546 (GRCm39) M2090T probably benign Het
Unc13a T C 8: 72,108,895 (GRCm39) probably null Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vav2 T C 2: 27,157,315 (GRCm39) E829G probably damaging Het
Vps35l T C 7: 118,393,762 (GRCm39) probably benign Het
Zfp26 A T 9: 20,353,533 (GRCm39) D85E probably benign Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Other mutations in Slc34a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02422:Slc34a3 APN 2 25,122,275 (GRCm39) missense probably benign 0.01
IGL02885:Slc34a3 APN 2 25,121,069 (GRCm39) missense probably damaging 1.00
IGL03131:Slc34a3 APN 2 25,121,246 (GRCm39) missense probably benign
IGL03166:Slc34a3 APN 2 25,122,186 (GRCm39) missense probably damaging 0.99
IGL03278:Slc34a3 APN 2 25,122,059 (GRCm39) missense probably benign 0.01
PIT4544001:Slc34a3 UTSW 2 25,120,607 (GRCm39) missense probably benign 0.27
R0415:Slc34a3 UTSW 2 25,119,122 (GRCm39) missense probably benign
R0558:Slc34a3 UTSW 2 25,123,077 (GRCm39) unclassified probably benign
R0883:Slc34a3 UTSW 2 25,121,245 (GRCm39) missense probably benign
R2329:Slc34a3 UTSW 2 25,119,422 (GRCm39) missense possibly damaging 0.95
R3108:Slc34a3 UTSW 2 25,119,257 (GRCm39) missense probably benign
R4637:Slc34a3 UTSW 2 25,119,473 (GRCm39) missense possibly damaging 0.92
R5008:Slc34a3 UTSW 2 25,120,854 (GRCm39) missense possibly damaging 0.62
R5341:Slc34a3 UTSW 2 25,120,671 (GRCm39) missense probably benign 0.00
R5623:Slc34a3 UTSW 2 25,123,312 (GRCm39) splice site probably null
R6602:Slc34a3 UTSW 2 25,119,221 (GRCm39) missense probably damaging 0.99
R7512:Slc34a3 UTSW 2 25,122,253 (GRCm39) splice site probably null
R7784:Slc34a3 UTSW 2 25,122,237 (GRCm39) missense probably damaging 1.00
R8072:Slc34a3 UTSW 2 25,119,289 (GRCm39) missense probably benign 0.01
R8730:Slc34a3 UTSW 2 25,122,057 (GRCm39) missense possibly damaging 0.80
R8762:Slc34a3 UTSW 2 25,121,003 (GRCm39) missense probably benign 0.03
R8880:Slc34a3 UTSW 2 25,119,267 (GRCm39) missense probably benign 0.03
Z1176:Slc34a3 UTSW 2 25,119,410 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTGAAGCAAGAAGGTTAGGC -3'
(R):5'- ATTGCTCTGTGAGTGCCTCC -3'

Sequencing Primer
(F):5'- CCTGCGCCAACGAGGATAG -3'
(R):5'- ACCCCGGTTCCAGCTCTG -3'
Posted On 2014-09-18