Incidental Mutation 'IGL00493:Ugt2b1'
ID 6416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b1
Ensembl Gene ENSMUSG00000035836
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B1
Synonyms 1300012D20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL00493
Quality Score
Status
Chromosome 5
Chromosomal Location 87064498-87074362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87073817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 181 (C181R)
Ref Sequence ENSEMBL: ENSMUSP00000031183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031183]
AlphaFold Q8R084
Predicted Effect probably benign
Transcript: ENSMUST00000031183
AA Change: C181R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: C181R

DomainStartEndE-ValueType
Pfam:UDPGT 24 527 4.7e-260 PFAM
Pfam:Glyco_tran_28_C 343 454 1.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102029
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,751,761 (GRCm39) T509A probably benign Het
Arhgap23 T C 11: 97,337,379 (GRCm39) probably null Het
Astn1 A T 1: 158,427,889 (GRCm39) I687F possibly damaging Het
Atg4d T C 9: 21,178,217 (GRCm39) F112L probably damaging Het
Bltp3b A C 10: 89,615,846 (GRCm39) D163A probably damaging Het
Cd200 T A 16: 45,217,409 (GRCm39) D94V probably damaging Het
Cfap46 T C 7: 139,194,359 (GRCm39) K2285R probably benign Het
Clhc1 T A 11: 29,521,745 (GRCm39) I426N probably damaging Het
Cnnm2 T A 19: 46,751,659 (GRCm39) V483E probably damaging Het
Dennd2b G A 7: 109,126,915 (GRCm39) A932V possibly damaging Het
Dlc1 A T 8: 37,037,436 (GRCm39) probably benign Het
Fpgs T C 2: 32,578,009 (GRCm39) I138V possibly damaging Het
Gpr152 T C 19: 4,193,506 (GRCm39) V349A probably benign Het
Hk1 C A 10: 62,122,127 (GRCm39) E523* probably null Het
Ift70a1 C A 2: 75,812,085 (GRCm39) probably benign Het
Krt6a T G 15: 101,601,229 (GRCm39) K241N probably damaging Het
Mcm3ap A G 10: 76,307,011 (GRCm39) S375G probably benign Het
Meikin C T 11: 54,289,320 (GRCm39) P231L probably damaging Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Mvk G A 5: 114,583,502 (GRCm39) V14I probably benign Het
Myo6 C T 9: 80,199,754 (GRCm39) S1021L probably damaging Het
N4bp2l2 G A 5: 150,585,401 (GRCm39) T193M probably benign Het
Naip5 G T 13: 100,367,279 (GRCm39) D272E probably damaging Het
Nptn T A 9: 58,550,922 (GRCm39) N316K probably damaging Het
Pde6c T C 19: 38,151,324 (GRCm39) probably benign Het
Prg4 T A 1: 150,327,671 (GRCm39) I850L probably damaging Het
Rdm1 T G 11: 101,526,580 (GRCm39) C251G possibly damaging Het
Relch A G 1: 105,624,324 (GRCm39) probably benign Het
Rps6kl1 G A 12: 85,186,157 (GRCm39) P291L probably benign Het
Sel1l A G 12: 91,781,387 (GRCm39) probably benign Het
Serpinb1b T C 13: 33,277,850 (GRCm39) F361S probably damaging Het
Sirpb1a G A 3: 15,475,788 (GRCm39) probably benign Het
Smpd1 T G 7: 105,205,848 (GRCm39) V405G probably damaging Het
Spmip11 T C 15: 98,486,425 (GRCm39) probably benign Het
Tead3 T C 17: 28,551,780 (GRCm39) T438A possibly damaging Het
Treh A T 9: 44,595,197 (GRCm39) D89V probably damaging Het
Trim10 A T 17: 37,188,140 (GRCm39) H452L probably benign Het
Xdh A T 17: 74,230,101 (GRCm39) F277I possibly damaging Het
Zswim4 T G 8: 84,938,769 (GRCm39) T1038P probably damaging Het
Other mutations in Ugt2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Ugt2b1 APN 5 87,074,055 (GRCm39) missense probably benign 0.00
IGL02591:Ugt2b1 APN 5 87,065,563 (GRCm39) missense probably damaging 1.00
IGL02795:Ugt2b1 APN 5 87,065,560 (GRCm39) missense probably damaging 1.00
IGL02993:Ugt2b1 APN 5 87,069,850 (GRCm39) missense possibly damaging 0.86
IGL03057:Ugt2b1 APN 5 87,074,200 (GRCm39) missense possibly damaging 0.59
IGL03084:Ugt2b1 APN 5 87,074,243 (GRCm39) missense probably benign 0.00
PIT4531001:Ugt2b1 UTSW 5 87,074,342 (GRCm39) missense probably benign 0.00
R0125:Ugt2b1 UTSW 5 87,073,961 (GRCm39) missense probably benign
R0480:Ugt2b1 UTSW 5 87,074,315 (GRCm39) missense probably benign 0.00
R0551:Ugt2b1 UTSW 5 87,073,943 (GRCm39) missense probably benign 0.01
R0601:Ugt2b1 UTSW 5 87,065,539 (GRCm39) missense possibly damaging 0.53
R0626:Ugt2b1 UTSW 5 87,073,720 (GRCm39) missense probably null 0.13
R1238:Ugt2b1 UTSW 5 87,073,988 (GRCm39) missense probably benign 0.00
R1623:Ugt2b1 UTSW 5 87,074,267 (GRCm39) missense probably benign 0.25
R1919:Ugt2b1 UTSW 5 87,073,859 (GRCm39) missense probably benign 0.00
R1930:Ugt2b1 UTSW 5 87,065,700 (GRCm39) missense probably damaging 1.00
R1931:Ugt2b1 UTSW 5 87,065,700 (GRCm39) missense probably damaging 1.00
R1955:Ugt2b1 UTSW 5 87,065,572 (GRCm39) missense probably damaging 1.00
R3973:Ugt2b1 UTSW 5 87,065,534 (GRCm39) missense probably benign 0.19
R3976:Ugt2b1 UTSW 5 87,065,534 (GRCm39) missense probably benign 0.19
R4115:Ugt2b1 UTSW 5 87,074,273 (GRCm39) missense probably damaging 0.99
R5018:Ugt2b1 UTSW 5 87,073,821 (GRCm39) nonsense probably null
R5043:Ugt2b1 UTSW 5 87,065,503 (GRCm39) missense possibly damaging 0.94
R5765:Ugt2b1 UTSW 5 87,067,265 (GRCm39) missense probably benign 0.32
R5959:Ugt2b1 UTSW 5 87,073,813 (GRCm39) missense probably benign 0.42
R5985:Ugt2b1 UTSW 5 87,067,527 (GRCm39) missense possibly damaging 0.56
R6791:Ugt2b1 UTSW 5 87,067,116 (GRCm39) missense probably damaging 1.00
R7380:Ugt2b1 UTSW 5 87,065,578 (GRCm39) missense not run
R7414:Ugt2b1 UTSW 5 87,073,693 (GRCm39) missense probably damaging 0.97
R8519:Ugt2b1 UTSW 5 87,074,326 (GRCm39) missense probably damaging 0.99
R9473:Ugt2b1 UTSW 5 87,065,539 (GRCm39) missense possibly damaging 0.53
R9540:Ugt2b1 UTSW 5 87,069,771 (GRCm39) missense possibly damaging 0.94
X0017:Ugt2b1 UTSW 5 87,074,188 (GRCm39) missense probably benign
X0027:Ugt2b1 UTSW 5 87,073,657 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20