Incidental Mutation 'R6845:Slc34a2'
ID 534704
Institutional Source Beutler Lab
Gene Symbol Slc34a2
Ensembl Gene ENSMUSG00000029188
Gene Name solute carrier family 34 (sodium phosphate), member 2
Synonyms type IIb Na/Picotransporter, D5Ertd227e, NaPi-2b, Npt2b
MMRRC Submission 044951-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6845 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 53206695-53229006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53226511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 545 (F545I)
Ref Sequence ENSEMBL: ENSMUSP00000092380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094787]
AlphaFold Q9DBP0
Predicted Effect probably damaging
Transcript: ENSMUST00000094787
AA Change: F545I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: F545I

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 110 252 2.3e-26 PFAM
Pfam:Na_Pi_cotrans 374 551 2.6e-17 PFAM
low complexity region 553 570 N/A INTRINSIC
low complexity region 616 645 N/A INTRINSIC
low complexity region 649 655 N/A INTRINSIC
Meta Mutation Damage Score 0.2064 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 95% (53/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality, embryonic growth arrest, failure of embryo turning and somitogenesis, impaired placental development and impaired yolk sac vascular remodeling. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 C A 3: 59,659,539 (GRCm39) P331T probably damaging Het
Adam6a T C 12: 113,507,717 (GRCm39) L30P possibly damaging Het
Cabin1 G A 10: 75,557,342 (GRCm39) R1099W probably damaging Het
Cdon C T 9: 35,398,252 (GRCm39) Q990* probably null Het
Cit T A 5: 116,122,947 (GRCm39) L1421Q probably damaging Het
Cplane1 T C 15: 8,251,388 (GRCm39) S1887P possibly damaging Het
Ddx27 T C 2: 166,864,016 (GRCm39) C242R probably damaging Het
Dlgap5 A T 14: 47,654,020 (GRCm39) V3E possibly damaging Het
Dnah6 A T 6: 73,110,525 (GRCm39) F1687I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Duoxa1 A T 2: 122,135,672 (GRCm39) Y142* probably null Het
F3 A G 3: 121,526,124 (GRCm39) K229R probably benign Het
Fance A G 17: 28,536,565 (GRCm39) R42G probably damaging Het
Foxs1 T C 2: 152,774,619 (GRCm39) K145E probably benign Het
Gpd1l T C 9: 114,762,785 (GRCm39) M1V probably null Het
Gpr149 T A 3: 62,511,942 (GRCm39) H19L possibly damaging Het
Hmgcs1 T C 13: 120,162,674 (GRCm39) Y213H probably damaging Het
Htra1 C A 7: 130,538,021 (GRCm39) probably benign Het
Il20ra A G 10: 19,635,059 (GRCm39) I433M probably benign Het
Il3ra G C 14: 14,346,517 (GRCm38) probably null Het
Kif11 C T 19: 37,392,565 (GRCm39) L499F probably damaging Het
Kifc3 A G 8: 95,835,307 (GRCm39) M189T probably benign Het
Klk1b3 G A 7: 43,851,127 (GRCm39) A187T probably benign Het
Klre1 T C 6: 129,561,202 (GRCm39) S188P probably damaging Het
Krtap4-13 G A 11: 99,700,192 (GRCm39) probably benign Het
Lgi4 A T 7: 30,760,510 (GRCm39) T22S probably damaging Het
Lrp10 C T 14: 54,707,145 (GRCm39) R661C probably damaging Het
Lrrtm1 A G 6: 77,220,864 (GRCm39) D107G probably benign Het
Mad1l1 C A 5: 139,994,924 (GRCm39) A701S probably damaging Het
Mia2 T A 12: 59,231,064 (GRCm39) Y1237* probably null Het
Mpp4 T C 1: 59,183,963 (GRCm39) D278G probably benign Het
Myh6 G A 14: 55,182,206 (GRCm39) S1734L probably benign Het
Nbeal1 C T 1: 60,320,469 (GRCm39) R2021* probably null Het
Nol4l T C 2: 153,258,582 (GRCm39) T602A probably benign Het
Or5b109 T A 19: 13,211,997 (GRCm39) C128S probably damaging Het
Pcdh15 A T 10: 74,466,465 (GRCm39) H894L probably benign Het
Phldb1 A T 9: 44,627,359 (GRCm39) I362N probably damaging Het
Plcxd2 T A 16: 45,830,223 (GRCm39) probably benign Het
Ppp1r13l G T 7: 19,105,323 (GRCm39) R365L probably damaging Het
Pramel16 T C 4: 143,676,394 (GRCm39) T237A probably benign Het
Rfc1 A T 5: 65,468,459 (GRCm39) S85T possibly damaging Het
Rnf133 A G 6: 23,649,341 (GRCm39) V196A possibly damaging Het
Shank3 T C 15: 89,432,528 (GRCm39) V1016A probably benign Het
Slc22a21 T C 11: 53,870,466 (GRCm39) D73G probably benign Het
Slc4a7 T A 14: 14,775,000 (GRCm38) M810K probably damaging Het
Ss18 A T 18: 14,788,221 (GRCm39) M83K possibly damaging Het
Tkfc T C 19: 10,576,696 (GRCm39) R94G probably damaging Het
Tpp2 T A 1: 44,017,668 (GRCm39) C757* probably null Het
Trav13n-4 T C 14: 53,599,856 (GRCm39) L11P probably damaging Het
Trpm4 T C 7: 44,971,753 (GRCm39) M138V possibly damaging Het
Utp18 G A 11: 93,776,582 (GRCm39) probably benign Het
Vps33a A G 5: 123,673,335 (GRCm39) V417A probably benign Het
Zfp207 C T 11: 80,286,317 (GRCm39) probably benign Het
Other mutations in Slc34a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Slc34a2 APN 5 53,222,950 (GRCm39) missense probably benign 0.06
IGL00845:Slc34a2 APN 5 53,215,696 (GRCm39) splice site probably benign
IGL01024:Slc34a2 APN 5 53,224,972 (GRCm39) missense possibly damaging 0.61
IGL01300:Slc34a2 APN 5 53,225,469 (GRCm39) critical splice acceptor site probably null
IGL01680:Slc34a2 APN 5 53,218,218 (GRCm39) missense probably damaging 1.00
IGL02226:Slc34a2 APN 5 53,225,073 (GRCm39) missense probably benign 0.12
IGL02682:Slc34a2 APN 5 53,216,580 (GRCm39) missense possibly damaging 0.64
IGL03294:Slc34a2 APN 5 53,221,340 (GRCm39) missense probably benign 0.00
tucumcari UTSW 5 53,221,351 (GRCm39) missense possibly damaging 0.68
D4216:Slc34a2 UTSW 5 53,222,839 (GRCm39) missense probably benign 0.01
R0094:Slc34a2 UTSW 5 53,221,310 (GRCm39) missense probably benign 0.28
R0227:Slc34a2 UTSW 5 53,226,968 (GRCm39) missense possibly damaging 0.51
R0524:Slc34a2 UTSW 5 53,222,215 (GRCm39) nonsense probably null
R0836:Slc34a2 UTSW 5 53,225,049 (GRCm39) missense probably benign
R1525:Slc34a2 UTSW 5 53,226,848 (GRCm39) missense probably benign 0.00
R1655:Slc34a2 UTSW 5 53,226,761 (GRCm39) missense probably benign 0.00
R1753:Slc34a2 UTSW 5 53,218,733 (GRCm39) missense probably benign 0.37
R1838:Slc34a2 UTSW 5 53,215,778 (GRCm39) missense probably benign
R2361:Slc34a2 UTSW 5 53,225,487 (GRCm39) missense probably benign 0.10
R2405:Slc34a2 UTSW 5 53,215,523 (GRCm39) missense probably benign 0.04
R3688:Slc34a2 UTSW 5 53,222,174 (GRCm39) missense probably benign 0.06
R4108:Slc34a2 UTSW 5 53,221,351 (GRCm39) missense possibly damaging 0.68
R4176:Slc34a2 UTSW 5 53,224,910 (GRCm39) missense probably damaging 1.00
R4380:Slc34a2 UTSW 5 53,226,628 (GRCm39) missense probably damaging 1.00
R4464:Slc34a2 UTSW 5 53,226,524 (GRCm39) missense probably damaging 0.99
R4780:Slc34a2 UTSW 5 53,226,793 (GRCm39) missense probably damaging 1.00
R4816:Slc34a2 UTSW 5 53,226,362 (GRCm39) missense probably damaging 1.00
R4934:Slc34a2 UTSW 5 53,224,942 (GRCm39) missense probably damaging 1.00
R5265:Slc34a2 UTSW 5 53,218,776 (GRCm39) missense probably damaging 0.96
R5309:Slc34a2 UTSW 5 53,226,830 (GRCm39) missense probably damaging 0.96
R5313:Slc34a2 UTSW 5 53,226,681 (GRCm39) missense probably damaging 0.96
R5884:Slc34a2 UTSW 5 53,226,722 (GRCm39) missense possibly damaging 0.46
R6084:Slc34a2 UTSW 5 53,224,989 (GRCm39) missense possibly damaging 0.91
R6310:Slc34a2 UTSW 5 53,222,139 (GRCm39) critical splice acceptor site probably null
R6568:Slc34a2 UTSW 5 53,226,476 (GRCm39) missense probably damaging 1.00
R6817:Slc34a2 UTSW 5 53,221,370 (GRCm39) missense probably damaging 0.98
R6944:Slc34a2 UTSW 5 53,222,225 (GRCm39) missense probably benign
R7873:Slc34a2 UTSW 5 53,215,714 (GRCm39) missense probably benign 0.02
R8114:Slc34a2 UTSW 5 53,225,701 (GRCm39) missense probably benign 0.00
R8158:Slc34a2 UTSW 5 53,218,182 (GRCm39) missense probably damaging 1.00
R8364:Slc34a2 UTSW 5 53,225,716 (GRCm39) missense possibly damaging 0.75
R9158:Slc34a2 UTSW 5 53,221,217 (GRCm39) missense possibly damaging 0.95
R9235:Slc34a2 UTSW 5 53,226,667 (GRCm39) missense probably benign 0.00
R9314:Slc34a2 UTSW 5 53,218,143 (GRCm39) missense possibly damaging 0.61
Z1176:Slc34a2 UTSW 5 53,218,159 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTATACACAAGACCTGGAGTGAC -3'
(R):5'- AGGGTTTCAGAGAGTGCATCC -3'

Sequencing Primer
(F):5'- ACAAGACCTGGAGTGACTCTTACTTC -3'
(R):5'- TTTCAGAGAGTGCATCCACAAG -3'
Posted On 2018-09-12