Incidental Mutation 'R1929:Slc26a2'
ID 215229
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 039947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R1929 (G1)
Quality Score 225
Status 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: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 98% (107/109)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Amdhd2 T C 17: 24,376,860 (GRCm39) probably null Het
Angel1 A C 12: 86,749,093 (GRCm39) L656V probably damaging Het
Ankrd12 G A 17: 66,293,681 (GRCm39) S584L possibly damaging Het
Apbb2 T A 5: 66,464,958 (GRCm39) N679Y probably benign Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Bnip3 T G 7: 138,496,359 (GRCm39) silent Het
Btc T C 5: 91,510,260 (GRCm39) Y111C probably damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cd2bp2 T C 7: 126,793,050 (GRCm39) D324G probably benign Het
Cdc20b A G 13: 113,208,451 (GRCm39) T216A probably benign Het
Cdk17 T C 10: 93,064,540 (GRCm39) Y270H probably damaging Het
Cenpv T C 11: 62,416,059 (GRCm39) E230G probably benign Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging 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
Cyp27b1 T A 10: 126,884,181 (GRCm39) V11D probably damaging Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 65,867,224 (GRCm39) S2785G probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Dtx3l A T 16: 35,754,059 (GRCm39) D182E possibly damaging Het
Efcab6 A G 15: 83,777,163 (GRCm39) probably benign Het
Elac2 T A 11: 64,870,015 (GRCm39) S27T probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgd6 T C 10: 93,880,868 (GRCm39) V574A probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging 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
Focad A G 4: 88,260,449 (GRCm39) N902D unknown Het
Focad A G 4: 88,315,416 (GRCm39) S1525G probably benign Het
Fras1 T C 5: 96,815,296 (GRCm39) W1338R probably benign Het
Fry A G 5: 150,324,389 (GRCm39) I1151V probably null Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Gm10076 T G 14: 105,919,304 (GRCm39) noncoding transcript Het
Gm5698 T G 1: 31,017,042 (GRCm39) D3A probably damaging Het
Gngt2 C T 11: 95,735,972 (GRCm39) probably benign Het
Gsdma T C 11: 98,562,193 (GRCm39) probably null Het
Gtf2h3 A T 5: 124,740,262 (GRCm39) probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnk16 A G 14: 20,315,347 (GRCm39) V72A probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matr3 T A 18: 35,721,378 (GRCm39) probably benign Het
Med13l T G 5: 118,866,898 (GRCm39) F651V probably benign Het
Mfsd11 T C 11: 116,764,740 (GRCm39) V388A probably benign Het
Mki67 C T 7: 135,299,794 (GRCm39) V1747I possibly damaging Het
Mms22l T C 4: 24,535,936 (GRCm39) probably benign Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1e1c T A 11: 73,266,427 (GRCm39) V287E probably damaging Het
Or4a15 A G 2: 89,193,353 (GRCm39) V140A probably benign Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
P4ha1 A G 10: 59,206,859 (GRCm39) E523G probably damaging 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
Pigr G A 1: 130,774,399 (GRCm39) probably benign Het
Pkd1l1 A T 11: 8,786,197 (GRCm39) probably benign Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Rgs3 A G 4: 62,620,384 (GRCm39) I537V probably damaging Het
Rhobtb2 T G 14: 70,033,893 (GRCm39) D444A probably damaging Het
Rnf40 T C 7: 127,190,956 (GRCm39) S314P probably damaging Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Samd3 A G 10: 26,139,884 (GRCm39) probably benign Het
Sec61a2 A G 2: 5,878,547 (GRCm39) probably benign Het
Serpina3m G A 12: 104,355,581 (GRCm39) A83T probably damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Sez6 C T 11: 77,863,758 (GRCm39) T439I probably damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Spg11 C T 2: 121,890,688 (GRCm39) V2044M probably damaging Het
Stx18 T A 5: 38,285,383 (GRCm39) probably null Het
Suclg2 T C 6: 95,566,075 (GRCm39) probably benign Het
Tlr4 A T 4: 66,757,681 (GRCm39) H158L probably damaging Het
Tmem131 A G 1: 36,851,352 (GRCm39) V966A possibly damaging Het
Tram1l1 T A 3: 124,115,635 (GRCm39) I265N probably damaging Het
Trim58 T A 11: 58,531,493 (GRCm39) F67Y possibly damaging Het
Ttc19 A G 11: 62,172,650 (GRCm39) Q74R probably benign Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn2r16 A G 5: 109,487,124 (GRCm39) Y115C possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp451 A G 1: 33,821,274 (GRCm39) F151L probably damaging Het
Zfp451 G A 1: 33,822,937 (GRCm39) P99S probably benign Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp804b A G 5: 6,819,748 (GRCm39) V1069A probably benign Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D 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
R2115:Slc26a2 UTSW 18 61,331,896 (GRCm39) missense possibly damaging 0.71
R2272:Slc26a2 UTSW 18 61,331,650 (GRCm39) missense possibly damaging 0.69
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'- TATGGCACTACAGTCGATCACG -3'
(R):5'- TGTGACTATGCTGTCCTCCG -3'

Sequencing Primer
(F):5'- GATAGTGTGCACCTCCAAGGGATC -3'
(R):5'- CCGCTCTGTTAAGCACTGAAATAGG -3'
Posted On 2014-07-14