Incidental Mutation 'IGL00820:Slc17a2'
ID14046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a2
Ensembl Gene ENSMUSG00000036110
Gene Namesolute carrier family 17 (sodium phosphate), member 2
SynonymsNPT3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00820
Quality Score
Status
Chromosome13
Chromosomal Location23806993-23825180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23819334 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 285 (H285R)
Ref Sequence ENSEMBL: ENSMUSP00000097288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006786] [ENSMUST00000099697]
Predicted Effect probably benign
Transcript: ENSMUST00000006786
AA Change: H285R

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110
AA Change: H285R

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 3.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099697
AA Change: H285R

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: H285R

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 2.9e-45 PFAM
transmembrane domain 443 462 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141717
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A T 4: 41,507,178 L206Q probably damaging Het
Abcg3 T A 5: 104,936,012 I631F probably benign Het
Baiap3 T C 17: 25,248,690 D314G probably benign Het
Ccl1 T C 11: 82,178,088 E41G possibly damaging Het
Ephx1 T C 1: 180,999,821 Y89C possibly damaging Het
Fbxw18 G A 9: 109,693,369 T144I probably damaging Het
Galt C T 4: 41,758,570 A357V probably benign Het
Gfra1 T C 19: 58,263,905 probably benign Het
Hivep1 A T 13: 42,183,818 I2458L probably benign Het
Itga8 A G 2: 12,232,892 V339A possibly damaging Het
Klk1b8 T C 7: 43,954,786 I226T probably benign Het
Mfsd6 C T 1: 52,708,306 V467M probably damaging Het
Mrpl16 T C 19: 11,774,413 V179A probably benign Het
Olfr603 G A 7: 103,383,465 T179I probably damaging Het
Pnpla6 A G 8: 3,532,358 T693A possibly damaging Het
Ptpn2 A C 18: 67,675,792 I318R possibly damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Sptb A G 12: 76,632,477 L68P probably damaging Het
Stxbp6 G A 12: 44,861,346 T163I probably damaging Het
Tex15 A G 8: 33,579,006 probably benign Het
Tti1 T C 2: 158,008,968 E117G probably damaging Het
Ube4b T C 4: 149,352,921 probably benign Het
Wipi1 A C 11: 109,583,119 probably benign Het
Zan A T 5: 137,386,364 C5133S unknown Het
Other mutations in Slc17a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Slc17a2 APN 13 23819138 critical splice donor site probably null
IGL01624:Slc17a2 APN 13 23814986 missense probably benign 0.00
IGL01839:Slc17a2 APN 13 23812685 missense possibly damaging 0.91
IGL02010:Slc17a2 APN 13 23819042 missense probably benign 0.00
IGL03299:Slc17a2 APN 13 23821111 critical splice donor site probably null
R7808_slc17a2_962 UTSW 13 23819334 missense probably damaging 0.99
R0622:Slc17a2 UTSW 13 23812611 missense probably damaging 1.00
R1104:Slc17a2 UTSW 13 23819937 missense probably damaging 0.99
R1530:Slc17a2 UTSW 13 23819069 missense probably damaging 1.00
R1682:Slc17a2 UTSW 13 23812640 missense probably damaging 0.96
R2255:Slc17a2 UTSW 13 23821008 missense probably benign 0.09
R4923:Slc17a2 UTSW 13 23819095 missense probably benign 0.20
R5193:Slc17a2 UTSW 13 23819862 critical splice acceptor site probably null
R5321:Slc17a2 UTSW 13 23812631 missense possibly damaging 0.95
R5334:Slc17a2 UTSW 13 23819051 missense probably damaging 0.97
R5377:Slc17a2 UTSW 13 23812592 missense probably damaging 1.00
R6165:Slc17a2 UTSW 13 23815070 missense probably benign 0.00
R6280:Slc17a2 UTSW 13 23822394 missense probably benign
R6311:Slc17a2 UTSW 13 23815022 missense probably benign 0.40
R6323:Slc17a2 UTSW 13 23814986 missense probably benign 0.00
R6476:Slc17a2 UTSW 13 23812586 missense probably damaging 1.00
R6814:Slc17a2 UTSW 13 23822389 missense possibly damaging 0.55
R7155:Slc17a2 UTSW 13 23822407 missense probably benign 0.21
R7188:Slc17a2 UTSW 13 23822365 missense probably damaging 1.00
R7288:Slc17a2 UTSW 13 23819112 missense probably benign 0.09
R7462:Slc17a2 UTSW 13 23822418 missense probably damaging 1.00
R7808:Slc17a2 UTSW 13 23819334 missense probably damaging 0.99
R7937:Slc17a2 UTSW 13 23812665 missense probably benign
R8444:Slc17a2 UTSW 13 23819078 missense probably benign 0.00
R8447:Slc17a2 UTSW 13 23822326 missense possibly damaging 0.50
Posted On2012-12-06