Incidental Mutation 'IGL02795:Ugt2b1'
ID 359927
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: 0.080) question?
Stock # IGL02795
Quality Score
Status
Chromosome 5
Chromosomal Location 86916638-86926530 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86917701 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 493 (D493V)
Ref Sequence ENSEMBL: ENSMUSP00000031183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031183]
AlphaFold Q8R084
Predicted Effect probably damaging
Transcript: ENSMUST00000031183
AA Change: D493V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: D493V

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: ENSMUST00000177553
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 (GRCm38) L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 (GRCm38) probably benign Het
Acvr1 A G 2: 58,462,952 (GRCm38) I332T probably damaging Het
Atp8a2 C T 14: 60,033,742 (GRCm38) V247M probably damaging Het
Btn1a1 T C 13: 23,460,616 (GRCm38) probably null Het
Btnl9 A T 11: 49,174,867 (GRCm38) probably benign Het
Dbx1 T A 7: 49,636,577 (GRCm38) I47F probably benign Het
Dnaja3 A G 16: 4,690,073 (GRCm38) probably benign Het
Dnmt1 T C 9: 20,927,111 (GRCm38) S220G probably benign Het
Dock9 A T 14: 121,639,978 (GRCm38) M451K probably benign Het
Eml3 A G 19: 8,933,778 (GRCm38) Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 (GRCm38) M10I possibly damaging Het
Flg2 C T 3: 93,203,613 (GRCm38) R983W unknown Het
Galnt5 C A 2: 58,027,871 (GRCm38) P707H probably damaging Het
Gba2 G T 4: 43,578,331 (GRCm38) P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 (GRCm38) probably benign Het
Gpr45 C T 1: 43,032,493 (GRCm38) R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 (GRCm38) S302L probably damaging Het
Hrg T C 16: 22,957,553 (GRCm38) probably benign Het
Kdelc2 A G 9: 53,392,105 (GRCm38) D99G probably damaging Het
Lama1 A G 17: 67,738,894 (GRCm38) probably null Het
Lgr4 T C 2: 110,008,210 (GRCm38) probably benign Het
Lrrc9 C T 12: 72,478,768 (GRCm38) T830M probably damaging Het
Mdga2 T C 12: 66,689,432 (GRCm38) T341A probably benign Het
Mms19 C T 19: 41,952,406 (GRCm38) probably null Het
Nectin1 A G 9: 43,803,552 (GRCm38) S362G probably benign Het
Nlrc3 G T 16: 3,965,285 (GRCm38) H87N probably damaging Het
Oit1 T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Olfr1018 T A 2: 85,823,512 (GRCm38) C180* probably null Het
Olfr142 A G 2: 90,252,562 (GRCm38) L142P probably damaging Het
Olfr183 G T 16: 59,000,277 (GRCm38) L197F possibly damaging Het
Olfr23 G A 11: 73,940,929 (GRCm38) V228I probably benign Het
Olfr243 T A 7: 103,716,883 (GRCm38) F96L probably benign Het
Pcsk1 G T 13: 75,112,620 (GRCm38) G321C probably damaging Het
Prrc2c G T 1: 162,714,299 (GRCm38) P374T probably benign Het
Rusc1 A T 3: 89,091,950 (GRCm38) L175Q probably damaging Het
Ryr2 T C 13: 11,595,190 (GRCm38) N4250S probably benign Het
Scara5 A C 14: 65,730,680 (GRCm38) N134T possibly damaging Het
Sema4d T C 13: 51,703,411 (GRCm38) K595R probably benign Het
Serpinb6a A C 13: 33,931,593 (GRCm38) L15R probably damaging Het
Setdb1 A T 3: 95,327,373 (GRCm38) N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 (GRCm38) probably benign Het
Slc22a30 C T 19: 8,400,895 (GRCm38) C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 (GRCm38) Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 (GRCm38) D611V probably benign Het
Spag6 G T 2: 18,733,083 (GRCm38) V255F probably benign Het
St5 T C 7: 109,556,364 (GRCm38) Y393C probably damaging Het
Svep1 C A 4: 58,123,223 (GRCm38) G698W probably damaging Het
Syne2 T C 12: 75,966,549 (GRCm38) L2839P probably damaging Het
Tfb2m T C 1: 179,545,959 (GRCm38) E58G possibly damaging Het
Trim24 A T 6: 37,919,389 (GRCm38) E260D probably damaging Het
Vmn1r27 A G 6: 58,215,302 (GRCm38) V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 (GRCm38) Q74R probably benign Het
Vps25 A G 11: 101,256,090 (GRCm38) Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 (GRCm38) G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 (GRCm38) E273G possibly damaging Het
Other mutations in Ugt2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Ugt2b1 APN 5 86,925,958 (GRCm38) missense probably benign 0.05
IGL00556:Ugt2b1 APN 5 86,926,196 (GRCm38) missense probably benign 0.00
IGL02591:Ugt2b1 APN 5 86,917,704 (GRCm38) missense probably damaging 1.00
IGL02993:Ugt2b1 APN 5 86,921,991 (GRCm38) missense possibly damaging 0.86
IGL03057:Ugt2b1 APN 5 86,926,341 (GRCm38) missense possibly damaging 0.59
IGL03084:Ugt2b1 APN 5 86,926,384 (GRCm38) missense probably benign 0.00
PIT4531001:Ugt2b1 UTSW 5 86,926,483 (GRCm38) missense probably benign 0.00
R0125:Ugt2b1 UTSW 5 86,926,102 (GRCm38) missense probably benign
R0480:Ugt2b1 UTSW 5 86,926,456 (GRCm38) missense probably benign 0.00
R0551:Ugt2b1 UTSW 5 86,926,084 (GRCm38) missense probably benign 0.01
R0601:Ugt2b1 UTSW 5 86,917,680 (GRCm38) missense possibly damaging 0.53
R0626:Ugt2b1 UTSW 5 86,925,861 (GRCm38) missense probably null 0.13
R1238:Ugt2b1 UTSW 5 86,926,129 (GRCm38) missense probably benign 0.00
R1623:Ugt2b1 UTSW 5 86,926,408 (GRCm38) missense probably benign 0.25
R1919:Ugt2b1 UTSW 5 86,926,000 (GRCm38) missense probably benign 0.00
R1930:Ugt2b1 UTSW 5 86,917,841 (GRCm38) missense probably damaging 1.00
R1931:Ugt2b1 UTSW 5 86,917,841 (GRCm38) missense probably damaging 1.00
R1955:Ugt2b1 UTSW 5 86,917,713 (GRCm38) missense probably damaging 1.00
R3973:Ugt2b1 UTSW 5 86,917,675 (GRCm38) missense probably benign 0.19
R3976:Ugt2b1 UTSW 5 86,917,675 (GRCm38) missense probably benign 0.19
R4115:Ugt2b1 UTSW 5 86,926,414 (GRCm38) missense probably damaging 0.99
R5018:Ugt2b1 UTSW 5 86,925,962 (GRCm38) nonsense probably null
R5043:Ugt2b1 UTSW 5 86,917,644 (GRCm38) missense possibly damaging 0.94
R5765:Ugt2b1 UTSW 5 86,919,406 (GRCm38) missense probably benign 0.32
R5959:Ugt2b1 UTSW 5 86,925,954 (GRCm38) missense probably benign 0.42
R5985:Ugt2b1 UTSW 5 86,919,668 (GRCm38) missense possibly damaging 0.56
R6791:Ugt2b1 UTSW 5 86,919,257 (GRCm38) missense probably damaging 1.00
R7380:Ugt2b1 UTSW 5 86,917,719 (GRCm38) missense not run
R7414:Ugt2b1 UTSW 5 86,925,834 (GRCm38) missense probably damaging 0.97
R8519:Ugt2b1 UTSW 5 86,926,467 (GRCm38) missense probably damaging 0.99
R9473:Ugt2b1 UTSW 5 86,917,680 (GRCm38) missense possibly damaging 0.53
R9540:Ugt2b1 UTSW 5 86,921,912 (GRCm38) missense possibly damaging 0.94
X0017:Ugt2b1 UTSW 5 86,926,329 (GRCm38) missense probably benign
X0027:Ugt2b1 UTSW 5 86,925,798 (GRCm38) missense probably benign 0.00
Posted On 2015-12-18