Incidental Mutation 'R2272:Slc26a2'
ID 242607
Institutional Source Beutler Lab
Gene Symbol Slc26a2
Ensembl Gene ENSMUSG00000034320
Gene Name solute carrier family 26 (sulfate transporter), member 2
Synonyms Dtd, ST-OB
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61329926-61344668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61331650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 594 (C594R)
Ref Sequence ENSEMBL: ENSMUSP00000119447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037603] [ENSMUST00000146409] [ENSMUST00000148829]
AlphaFold Q62273
Predicted Effect probably benign
Transcript: ENSMUST00000037603
AA Change: C359R

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000040163
Gene: ENSMUSG00000034320
AA Change: C359R

DomainStartEndE-ValueType
Pfam:Sulfate_transp 1 279 5.8e-83 PFAM
low complexity region 317 330 N/A INTRINSIC
Pfam:STAS 334 480 5.8e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000146409
AA Change: C594R

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119447
Gene: ENSMUSG00000034320
AA Change: C594R

DomainStartEndE-ValueType
Pfam:Sulfate_transp 108 518 1.8e-133 PFAM
low complexity region 552 565 N/A INTRINSIC
Pfam:STAS 569 715 2.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148829
SMART Domains Protein: ENSMUSP00000114419
Gene: ENSMUSG00000034320

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 93 176 1.1e-33 PFAM
Meta Mutation Damage Score 0.1911 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, stunted growth, joint contractures, and skeletal dysplasia including kyphosis, shorter osteoporotic long bones, aberrant chondrocyte size, delayed endochondral bone ossification, and impairedchondrocyte proliferation and sulfate uptake. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L probably damaging Het
Other mutations in Slc26a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Slc26a2 APN 18 61,331,812 (GRCm39) missense probably benign 0.05
IGL01570:Slc26a2 APN 18 61,331,332 (GRCm39) missense possibly damaging 0.80
IGL01800:Slc26a2 APN 18 61,334,801 (GRCm39) nonsense probably null
IGL02131:Slc26a2 APN 18 61,331,884 (GRCm39) missense possibly damaging 0.69
IGL02277:Slc26a2 APN 18 61,332,052 (GRCm39) missense probably damaging 1.00
IGL02438:Slc26a2 APN 18 61,335,289 (GRCm39) missense possibly damaging 0.46
IGL03338:Slc26a2 APN 18 61,331,974 (GRCm39) missense probably damaging 1.00
IGL03377:Slc26a2 APN 18 61,331,658 (GRCm39) missense probably damaging 1.00
R0029:Slc26a2 UTSW 18 61,335,382 (GRCm39) missense possibly damaging 0.73
R0531:Slc26a2 UTSW 18 61,331,451 (GRCm39) missense probably damaging 1.00
R1929:Slc26a2 UTSW 18 61,331,650 (GRCm39) missense possibly damaging 0.69
R2115:Slc26a2 UTSW 18 61,331,896 (GRCm39) missense possibly damaging 0.71
R2921:Slc26a2 UTSW 18 61,335,007 (GRCm39) missense probably damaging 0.99
R4184:Slc26a2 UTSW 18 61,331,904 (GRCm39) missense probably benign 0.01
R4765:Slc26a2 UTSW 18 61,332,558 (GRCm39) missense probably damaging 0.97
R4812:Slc26a2 UTSW 18 61,335,093 (GRCm39) missense probably damaging 1.00
R4948:Slc26a2 UTSW 18 61,331,330 (GRCm39) nonsense probably null
R4960:Slc26a2 UTSW 18 61,331,875 (GRCm39) missense probably damaging 1.00
R5107:Slc26a2 UTSW 18 61,331,632 (GRCm39) missense probably damaging 1.00
R6120:Slc26a2 UTSW 18 61,332,489 (GRCm39) missense possibly damaging 0.64
R6147:Slc26a2 UTSW 18 61,334,757 (GRCm39) missense probably damaging 1.00
R6914:Slc26a2 UTSW 18 61,332,351 (GRCm39) missense probably damaging 0.97
R6996:Slc26a2 UTSW 18 61,334,926 (GRCm39) missense probably damaging 1.00
R7166:Slc26a2 UTSW 18 61,331,901 (GRCm39) missense possibly damaging 0.88
R7529:Slc26a2 UTSW 18 61,331,430 (GRCm39) missense probably damaging 1.00
R7609:Slc26a2 UTSW 18 61,331,532 (GRCm39) missense probably benign 0.00
R7846:Slc26a2 UTSW 18 61,331,776 (GRCm39) missense probably benign 0.00
R8208:Slc26a2 UTSW 18 61,331,806 (GRCm39) missense probably damaging 1.00
R9066:Slc26a2 UTSW 18 61,335,130 (GRCm39) missense probably benign 0.01
R9490:Slc26a2 UTSW 18 61,331,881 (GRCm39) missense probably benign 0.05
R9752:Slc26a2 UTSW 18 61,335,010 (GRCm39) missense probably benign 0.11
X0003:Slc26a2 UTSW 18 61,332,267 (GRCm39) missense probably damaging 0.99
Z1177:Slc26a2 UTSW 18 61,332,609 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGCACTACAGTCGATCACG -3'
(R):5'- TCCGCTCTGTTAAGCACTG -3'

Sequencing Primer
(F):5'- GATAGTGTGCACCTCCAAGGGATC -3'
(R):5'- CCGCTCTGTTAAGCACTGAAATAGG -3'
Posted On 2014-10-16