Incidental Mutation 'R7145:Sult2b1'
ID 553712
Institutional Source Beutler Lab
Gene Symbol Sult2b1
Ensembl Gene ENSMUSG00000003271
Gene Name sulfotransferase family, cytosolic, 2B, member 1
Synonyms SULT2B, Gm5897
MMRRC Submission 045223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R7145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45379405-45409096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45383056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 242 (E242G)
Ref Sequence ENSEMBL: ENSMUSP00000148064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000129507] [ENSMUST00000209739] [ENSMUST00000210147] [ENSMUST00000210754]
AlphaFold O35400
Predicted Effect probably damaging
Transcript: ENSMUST00000075571
AA Change: E208G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
AA Change: E208G

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 57 302 7.8e-84 PFAM
low complexity region 309 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129507
SMART Domains Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161

DomainStartEndE-ValueType
Pfam:DUF1669 18 293 4.8e-105 PFAM
low complexity region 371 385 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000209739
AA Change: E240G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210147
Predicted Effect probably damaging
Transcript: ENSMUST00000210754
AA Change: E242G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack cholesterol sulfate in the dermis but otherwise appear to have normal lipid metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,820 (GRCm39) Y1670H probably damaging Het
Abca12 T C 1: 71,346,212 (GRCm39) K886R possibly damaging Het
Adcy3 G A 12: 4,250,992 (GRCm39) E584K probably benign Het
Ano3 A T 2: 110,693,205 (GRCm39) V131D probably benign Het
Arhgdig C T 17: 26,418,337 (GRCm39) W215* probably null Het
Cad G T 5: 31,224,956 (GRCm39) W953L possibly damaging Het
Calhm2 T C 19: 47,124,080 (GRCm39) Y88C probably benign Het
Cdk5rap2 A T 4: 70,156,468 (GRCm39) D1681E probably benign Het
Cenpl T A 1: 160,910,482 (GRCm39) L143H possibly damaging Het
Cherp T C 8: 73,222,230 (GRCm39) K270E Het
Cmss1 A G 16: 57,131,718 (GRCm39) I136T probably benign Het
Col23a1 T C 11: 51,456,050 (GRCm39) probably null Het
Crnn C A 3: 93,055,689 (GRCm39) D158E probably damaging Het
Dnmt3a A T 12: 3,922,844 (GRCm39) Q149L probably benign Het
Dst T A 1: 34,228,963 (GRCm39) N2185K probably benign Het
Eif1ad18 G T 12: 88,050,597 (GRCm39) C44F probably benign Het
Elp2 T A 18: 24,737,126 (GRCm39) N25K probably benign Het
Ephb4 A T 5: 137,370,308 (GRCm39) D845V probably damaging Het
Esyt3 T C 9: 99,201,627 (GRCm39) T561A probably damaging Het
F3 G T 3: 121,525,235 (GRCm39) V159L probably damaging Het
Fam81a A T 9: 70,017,560 (GRCm39) D128E probably damaging Het
Flot1 T G 17: 36,135,835 (GRCm39) H155Q probably benign Het
Fut9 T A 4: 25,620,507 (GRCm39) K102N probably damaging Het
Gm6309 T C 5: 146,107,100 (GRCm39) Q82R possibly damaging Het
H13 A G 2: 152,522,992 (GRCm39) N102D probably damaging Het
Lamc2 C G 1: 153,006,518 (GRCm39) A878P possibly damaging Het
Lepr C T 4: 101,609,394 (GRCm39) T327I probably benign Het
Lrp2 A G 2: 69,285,152 (GRCm39) probably null Het
Ly86 A G 13: 37,560,986 (GRCm39) K116E probably damaging Het
Mapk8ip2 T A 15: 89,343,201 (GRCm39) F648I possibly damaging Het
Muc16 G A 9: 18,566,876 (GRCm39) T1881I unknown Het
Myh13 T G 11: 67,245,566 (GRCm39) S1069A probably benign Het
Myh4 T A 11: 67,151,054 (GRCm39) I1903N possibly damaging Het
Myo18b A T 5: 112,965,545 (GRCm39) L1341* probably null Het
Naa25 G T 5: 121,555,552 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapg C T 5: 45,827,372 (GRCm39) A3V possibly damaging Het
Ncln T C 10: 81,324,086 (GRCm39) H481R probably benign Het
Nek4 C A 14: 30,704,305 (GRCm39) Q607K probably damaging Het
Neo1 T C 9: 58,796,462 (GRCm39) Y1182C probably damaging Het
Npnt T C 3: 132,615,692 (GRCm39) N165S probably benign Het
Or2l5 C G 16: 19,333,649 (GRCm39) V246L probably damaging Het
Or4p22 C T 2: 88,317,721 (GRCm39) S215L probably damaging Het
Or8b8 A G 9: 37,808,859 (GRCm39) H53R probably benign Het
Or8k30 T C 2: 86,338,872 (GRCm39) L23P probably damaging Het
Otulin T C 15: 27,608,856 (GRCm39) Y229C probably damaging Het
Palld A T 8: 61,985,051 (GRCm39) D1071E unknown Het
Pcdhb20 T C 18: 37,638,142 (GRCm39) S223P probably damaging Het
Pcdhga6 T A 18: 37,840,781 (GRCm39) I167N probably damaging Het
Pcdhgb4 A G 18: 37,854,843 (GRCm39) N413D probably benign Het
Pcdhgb8 T A 18: 37,896,050 (GRCm39) Y373* probably null Het
Plxna2 G T 1: 194,331,830 (GRCm39) V419L probably benign Het
Rpgrip1l A T 8: 91,959,434 (GRCm39) probably null Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Scaper C T 9: 55,819,395 (GRCm39) D107N unknown Het
Scgb2b3 T A 7: 31,059,573 (GRCm39) Y67F probably benign Het
Scn5a G A 9: 119,315,437 (GRCm39) T1757I probably damaging Het
Sgo2b G A 8: 64,381,218 (GRCm39) P538L probably damaging Het
Slc9a3 A G 13: 74,298,797 (GRCm39) K72R probably damaging Het
Smchd1 T A 17: 71,685,202 (GRCm39) T1409S probably benign Het
Stab1 A T 14: 30,867,030 (GRCm39) probably null Het
Tcaf1 A T 6: 42,663,687 (GRCm39) H64Q probably damaging Het
Tle6 T C 10: 81,435,910 (GRCm39) T2A possibly damaging Het
Tmem115 T C 9: 107,412,285 (GRCm39) V203A probably benign Het
Tmem45b G A 9: 31,340,337 (GRCm39) T108I probably damaging Het
Tmf1 A T 6: 97,153,079 (GRCm39) D331E probably damaging Het
Txndc9 T C 1: 38,029,377 (GRCm39) Y157C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 C A 6: 124,168,711 (GRCm39) R806S probably benign Het
Vmn2r59 G A 7: 41,695,188 (GRCm39) A408V probably damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Other mutations in Sult2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02415:Sult2b1 APN 7 45,391,509 (GRCm39) missense possibly damaging 0.86
IGL02964:Sult2b1 APN 7 45,384,698 (GRCm39) missense probably benign 0.01
IGL03208:Sult2b1 APN 7 45,383,053 (GRCm39) missense probably damaging 1.00
R0392:Sult2b1 UTSW 7 45,383,062 (GRCm39) missense probably damaging 1.00
R0415:Sult2b1 UTSW 7 45,379,516 (GRCm39) unclassified probably benign
R2247:Sult2b1 UTSW 7 45,384,734 (GRCm39) missense probably damaging 1.00
R3851:Sult2b1 UTSW 7 45,379,461 (GRCm39) unclassified probably benign
R3935:Sult2b1 UTSW 7 45,391,640 (GRCm39) missense probably benign 0.09
R3936:Sult2b1 UTSW 7 45,391,640 (GRCm39) missense probably benign 0.09
R4179:Sult2b1 UTSW 7 45,384,735 (GRCm39) missense probably damaging 1.00
R4723:Sult2b1 UTSW 7 45,391,489 (GRCm39) missense probably damaging 1.00
R5634:Sult2b1 UTSW 7 45,383,506 (GRCm39) missense probably damaging 0.99
R5782:Sult2b1 UTSW 7 45,380,770 (GRCm39) missense probably damaging 1.00
R6562:Sult2b1 UTSW 7 45,391,670 (GRCm39) missense probably benign 0.00
R6816:Sult2b1 UTSW 7 45,383,102 (GRCm39) missense probably damaging 1.00
R6921:Sult2b1 UTSW 7 45,384,612 (GRCm39) missense probably damaging 1.00
R7250:Sult2b1 UTSW 7 45,433,361 (GRCm39) missense unknown
R7392:Sult2b1 UTSW 7 45,391,862 (GRCm39) start gained probably benign
R7398:Sult2b1 UTSW 7 45,380,718 (GRCm39) missense probably damaging 1.00
R7691:Sult2b1 UTSW 7 45,384,708 (GRCm39) missense probably benign 0.01
R7712:Sult2b1 UTSW 7 45,379,620 (GRCm39) missense probably benign 0.15
R8239:Sult2b1 UTSW 7 45,433,361 (GRCm39) missense unknown
R9159:Sult2b1 UTSW 7 45,391,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTATCTGATCTTGAGTGGATTTGCC -3'
(R):5'- ATACATGGTGGGCTGCACAG -3'

Sequencing Primer
(F):5'- GAGTGGATTTGCCCCATCTGC -3'
(R):5'- TCTCTAACCCTGGCTGAAAGG -3'
Posted On 2019-05-15