Incidental Mutation 'R5634:Sult2b1'
ID 440027
Institutional Source Beutler Lab
Gene Symbol Sult2b1
Ensembl Gene ENSMUSG00000003271
Gene Name sulfotransferase family, cytosolic, 2B, member 1
Synonyms SULT2B, Gm5897
MMRRC Submission 043285-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5634 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45379405-45409096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45383506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 183 (V183A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000129507] [ENSMUST00000209739] [ENSMUST00000210147] [ENSMUST00000210754]
AlphaFold O35400
Predicted Effect probably damaging
Transcript: ENSMUST00000075571
AA Change: V149A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
AA Change: V149A

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 57 302 7.8e-84 PFAM
low complexity region 309 337 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107735
AA Change: V183A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103363
Gene: ENSMUSG00000003271
AA Change: V183A

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 91 336 5.2e-84 PFAM
Pfam:Sulfotransfer_3 92 262 5.1e-11 PFAM
low complexity region 343 371 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 noncoding transcript
Transcript: ENSMUST00000209435
Predicted Effect possibly damaging
Transcript: ENSMUST00000209739
AA Change: V181A

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000210147
Predicted Effect probably damaging
Transcript: ENSMUST00000210754
AA Change: V183A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211124
Meta Mutation Damage Score 0.4946 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (60/61)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,494,921 (GRCm39) probably benign Het
Aen A T 7: 78,552,255 (GRCm39) T34S probably benign Het
Apoh T A 11: 108,302,875 (GRCm39) V280E probably damaging Het
Ccdc87 A G 19: 4,890,693 (GRCm39) H395R probably benign Het
Ccrl2 T A 9: 110,885,055 (GRCm39) probably null Het
Cdh20 T C 1: 104,902,800 (GRCm39) F497S probably damaging Het
Cfap54 C A 10: 92,740,125 (GRCm39) probably benign Het
Cimap1b T A 15: 89,262,410 (GRCm39) T70S probably benign Het
Cipc T A 12: 86,999,749 (GRCm39) probably null Het
Col14a1 T A 15: 55,381,694 (GRCm39) Y1756N probably damaging Het
Cyp2c54 G A 19: 40,060,858 (GRCm39) A95V possibly damaging Het
Dcdc5 A G 2: 106,234,325 (GRCm39) noncoding transcript Het
Dnah17 T C 11: 117,943,752 (GRCm39) probably null Het
Eepd1 A T 9: 25,514,849 (GRCm39) N552I probably benign Het
Eif2ak4 A T 2: 118,292,792 (GRCm39) R1218W probably damaging Het
Fbxw18 T A 9: 109,505,871 (GRCm39) I467F possibly damaging Het
Ffar4 GCTTCTT GCTT 19: 38,102,373 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpha2 A G 19: 6,276,890 (GRCm39) T25A probably benign Het
Grin3a T A 4: 49,792,843 (GRCm39) I297F probably damaging Het
Herc2 G A 7: 55,856,531 (GRCm39) G3924R probably damaging Het
Hmcn2 G T 2: 31,223,893 (GRCm39) D97Y probably damaging Het
Igdcc4 G A 9: 65,041,828 (GRCm39) G1131D probably benign Het
Il18rap T C 1: 40,578,536 (GRCm39) probably benign Het
Ino80d C A 1: 63,101,442 (GRCm39) probably benign Het
Klhl1 T C 14: 96,477,707 (GRCm39) T454A probably damaging Het
Krt84 C A 15: 101,437,084 (GRCm39) V360L probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc37 T C 11: 103,432,840 (GRCm39) N1267S possibly damaging Het
Mapkbp1 A G 2: 119,803,576 (GRCm39) N15S probably damaging Het
Med13l T C 5: 118,698,915 (GRCm39) F22S possibly damaging Het
Mrc2 T A 11: 105,227,040 (GRCm39) C548* probably null Het
Nacad T C 11: 6,552,387 (GRCm39) E268G possibly damaging Het
Nfxl1 A G 5: 72,686,833 (GRCm39) C527R probably damaging Het
Nphp1 A T 2: 127,601,570 (GRCm39) C412S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4g16 A G 2: 111,137,437 (GRCm39) I296V probably benign Het
Per2 C T 1: 91,372,429 (GRCm39) C215Y probably benign Het
Pias1 T C 9: 62,803,255 (GRCm39) T343A probably benign Het
Pja2 C T 17: 64,599,862 (GRCm39) V541M probably damaging Het
Plxna4 G A 6: 32,214,658 (GRCm39) Q608* probably null Het
Ppil4 T A 10: 7,690,542 (GRCm39) D398E probably benign Het
Ppp4r3a T A 12: 101,009,780 (GRCm39) D8V probably damaging Het
Pstk A C 7: 130,973,072 (GRCm39) D57A probably damaging Het
Ptprd T C 4: 75,990,255 (GRCm39) I53V probably benign Het
Pyroxd2 A G 19: 42,728,924 (GRCm39) F159L probably benign Het
Rnf103 A G 6: 71,486,601 (GRCm39) M411V probably benign Het
Scn4a T C 11: 106,220,830 (GRCm39) D943G probably benign Het
Sdk2 T C 11: 113,742,540 (GRCm39) T790A probably damaging Het
Sfr1 T C 19: 47,722,310 (GRCm39) L242P probably damaging Het
Snx25 T C 8: 46,494,428 (GRCm39) D819G possibly damaging Het
Tcf4 C A 18: 69,769,918 (GRCm39) S8R possibly damaging Het
Ttc7 A G 17: 87,649,515 (GRCm39) D531G probably benign Het
Uap1l1 A C 2: 25,254,145 (GRCm39) C271G probably damaging Het
Ubtf T C 11: 102,201,150 (GRCm39) Y268C probably damaging Het
Vinac1 A T 2: 128,881,406 (GRCm39) D173E probably benign Het
Zfp951 A T 5: 104,963,155 (GRCm39) M137K 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
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
R7145:Sult2b1 UTSW 7 45,383,056 (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'- TGTGCAGCCCACCATGTATC -3'
(R):5'- GGTTAGTATGCAAAGCCCCAGG -3'

Sequencing Primer
(F):5'- GAAGGGACCATATCTCTGCTC -3'
(R):5'- GGTTGACACACACTTGCAATCTGAG -3'
Posted On 2016-11-08