Incidental Mutation 'R5265:Slc34a2'
ID 401640
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 042833-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 53206695-53229006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53218776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 198 (I198T)
Ref Sequence ENSEMBL: ENSMUSP00000092380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094787] [ENSMUST00000170523]
AlphaFold Q9DBP0
Predicted Effect probably damaging
Transcript: ENSMUST00000094787
AA Change: I198T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: I198T

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 probably damaging
Transcript: ENSMUST00000168667
AA Change: I198T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132328
Gene: ENSMUSG00000029188
AA Change: I198T

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 110 253 1.2e-33 PFAM
Pfam:Na_Pi_cotrans 379 517 4.1e-15 PFAM
low complexity region 557 586 N/A INTRINSIC
low complexity region 590 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170523
SMART Domains Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 110 187 2.9e-20 PFAM
Meta Mutation Damage Score 0.9723 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging 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
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
R6845:Slc34a2 UTSW 5 53,226,511 (GRCm39) missense probably damaging 0.96
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'- AATATTTAGCCGCAGTGTGTTC -3'
(R):5'- TGCCTGCATGACTGTGTAATC -3'

Sequencing Primer
(F):5'- TAGCCGCAGTGTGTTCATCCC -3'
(R):5'- CTAGCTTTACAGATCCGTAAGTGG -3'
Posted On 2016-07-06