Incidental Mutation 'IGL01680:Slc34a2'
ID103751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc34a2
Ensembl Gene ENSMUSG00000029188
Gene Namesolute carrier family 34 (sodium phosphate), member 2
SynonymsD5Ertd227e, type IIb Na/Picotransporter, Npt2b, NaPi-2b
Accession Numbers

Genbank: NM_011402; MGI: 1342284

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01680
Quality Score
Status
Chromosome5
Chromosomal Location53038081-53071664 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53060876 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 166 (I166V)
Ref Sequence ENSEMBL: ENSMUSP00000092380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094787] [ENSMUST00000170523]
Predicted Effect probably damaging
Transcript: ENSMUST00000094787
AA Change: I166V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: I166V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147243
Predicted Effect possibly damaging
Transcript: ENSMUST00000170523
AA Change: I166V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188
AA Change: I166V

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 110 187 2.9e-20 PFAM
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,402,620 W121R unknown Het
Adprh C T 16: 38,450,216 G76S possibly damaging Het
Arhgap31 T C 16: 38,603,614 T697A probably benign Het
Ces2f T C 8: 104,954,073 M489T probably benign Het
Clec5a A G 6: 40,584,380 Y44H probably benign Het
Csmd3 T C 15: 47,970,030 H950R probably damaging Het
Dgkz G T 2: 91,935,865 P784T probably benign Het
Dok1 T C 6: 83,031,312 D463G possibly damaging Het
Eif4a2 C A 16: 23,109,191 Q94K probably benign Het
Epg5 T C 18: 78,012,741 L1710P probably damaging Het
Fam45a A G 19: 60,817,534 T86A possibly damaging Het
Fign A G 2: 63,978,644 probably benign Het
Gbp10 T C 5: 105,224,271 probably null Het
Gga2 G T 7: 121,998,076 D363E probably benign Het
Glis2 T A 16: 4,611,331 F133I possibly damaging Het
Isg20 A G 7: 78,916,585 D94G probably damaging Het
Kif23 T C 9: 61,931,814 D319G probably benign Het
Lbr C A 1: 181,836,194 R87L probably damaging Het
Map3k9 T C 12: 81,724,739 T715A probably benign Het
Mapk14 T C 17: 28,725,846 probably null Het
Mpp4 A C 1: 59,130,067 C341W probably benign Het
Mroh9 C T 1: 163,047,982 probably null Het
Myo16 T C 8: 10,272,630 V20A probably damaging Het
Olfr1120 T C 2: 87,357,905 S154P probably damaging Het
Olfr371 A T 8: 85,230,679 L61F probably benign Het
Olfr551 A T 7: 102,588,229 C171* probably null Het
Pofut2 C T 10: 77,263,293 R186W probably damaging Het
Ppp1r1b T A 11: 98,350,566 probably null Het
Slc4a2 A G 5: 24,432,930 T375A probably benign Het
Slitrk5 C A 14: 111,679,000 H19N probably benign Het
Sptb T A 12: 76,630,682 Q126L probably damaging Het
Stoml1 T C 9: 58,256,713 V105A probably damaging Het
Stt3b C A 9: 115,246,261 probably benign Het
Thbs4 T C 13: 92,776,980 E144G probably benign Het
Tns3 A G 11: 8,548,937 Y49H probably damaging Het
Vmn2r87 C T 10: 130,479,717 W160* probably null Het
Zfp647 T A 15: 76,917,768 probably benign Het
Other mutations in Slc34a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Slc34a2 APN 5 53065608 missense probably benign 0.06
IGL00845:Slc34a2 APN 5 53058354 splice site probably benign
IGL01024:Slc34a2 APN 5 53067630 missense possibly damaging 0.61
IGL01300:Slc34a2 APN 5 53068127 critical splice acceptor site probably null
IGL02226:Slc34a2 APN 5 53067731 missense probably benign 0.12
IGL02682:Slc34a2 APN 5 53059238 missense possibly damaging 0.64
IGL03294:Slc34a2 APN 5 53063998 missense probably benign 0.00
tucumcari UTSW 5 53064009 missense possibly damaging 0.68
D4216:Slc34a2 UTSW 5 53065497 missense probably benign 0.01
R0094:Slc34a2 UTSW 5 53063968 missense probably benign 0.28
R0227:Slc34a2 UTSW 5 53069626 missense possibly damaging 0.51
R0524:Slc34a2 UTSW 5 53064873 nonsense probably null
R0836:Slc34a2 UTSW 5 53067707 missense probably benign
R1525:Slc34a2 UTSW 5 53069506 missense probably benign 0.00
R1655:Slc34a2 UTSW 5 53069419 missense probably benign 0.00
R1753:Slc34a2 UTSW 5 53061391 missense probably benign 0.37
R1838:Slc34a2 UTSW 5 53058436 missense probably benign
R2361:Slc34a2 UTSW 5 53068145 missense probably benign 0.10
R2405:Slc34a2 UTSW 5 53058181 missense probably benign 0.04
R3688:Slc34a2 UTSW 5 53064832 missense probably benign 0.06
R4108:Slc34a2 UTSW 5 53064009 missense possibly damaging 0.68
R4176:Slc34a2 UTSW 5 53067568 missense probably damaging 1.00
R4380:Slc34a2 UTSW 5 53069286 missense probably damaging 1.00
R4464:Slc34a2 UTSW 5 53069182 missense probably damaging 0.99
R4780:Slc34a2 UTSW 5 53069451 missense probably damaging 1.00
R4816:Slc34a2 UTSW 5 53069020 missense probably damaging 1.00
R4934:Slc34a2 UTSW 5 53067600 missense probably damaging 1.00
R5265:Slc34a2 UTSW 5 53061434 missense probably damaging 0.96
R5309:Slc34a2 UTSW 5 53069488 missense probably damaging 0.96
R5313:Slc34a2 UTSW 5 53069339 missense probably damaging 0.96
R5884:Slc34a2 UTSW 5 53069380 missense possibly damaging 0.46
R6084:Slc34a2 UTSW 5 53067647 missense possibly damaging 0.91
R6310:Slc34a2 UTSW 5 53064797 critical splice acceptor site probably null
R6568:Slc34a2 UTSW 5 53069134 missense probably damaging 1.00
R6817:Slc34a2 UTSW 5 53064028 missense probably damaging 0.98
R6845:Slc34a2 UTSW 5 53069169 missense probably damaging 0.96
R6944:Slc34a2 UTSW 5 53064883 missense probably benign
R7873:Slc34a2 UTSW 5 53058372 missense probably benign 0.02
R7956:Slc34a2 UTSW 5 53058372 missense probably benign 0.02
Posted On2014-01-21