Incidental Mutation 'R7380:Ugt2b1'
ID 572624
Institutional Source Beutler Lab
Gene Symbol Ugt2b1
Ensembl Gene ENSMUSG00000035836
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B1
Synonyms 1300012D20Rik
MMRRC Submission 045462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R7380 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 87064498-87074362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87065578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 487 (F487Y)
Ref Sequence ENSEMBL: ENSMUSP00000031183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031183]
AlphaFold Q8R084
Predicted Effect not run
Transcript: ENSMUST00000031183
AA Change: F487Y
SMART Domains Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: F487Y

DomainStartEndE-ValueType
Pfam:UDPGT 24 527 4.7e-260 PFAM
Pfam:Glyco_tran_28_C 343 454 1.7e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,700,376 (GRCm39) T9A probably benign Het
Abcc5 A T 16: 20,215,784 (GRCm39) S414R possibly damaging Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Ankib1 G T 5: 3,772,576 (GRCm39) Q487K probably benign Het
BC034090 T G 1: 155,108,229 (GRCm39) S11R probably damaging Het
Car12 A G 9: 66,654,945 (GRCm39) N125S probably benign Het
Casq1 A G 1: 172,044,416 (GRCm39) V137A probably benign Het
Cfap54 C A 10: 92,883,840 (GRCm39) V305F probably damaging Het
Clstn3 T C 6: 124,433,948 (GRCm39) E404G probably benign Het
Copg1 T G 6: 87,870,824 (GRCm39) L209R probably damaging Het
Cpb2 A T 14: 75,493,449 (GRCm39) Q42L possibly damaging Het
Cpd G A 11: 76,693,151 (GRCm39) Q712* probably null Het
Csmd3 T A 15: 47,450,361 (GRCm39) Y2690F Het
Dchs1 G T 7: 105,407,835 (GRCm39) T1999K probably benign Het
Ddx10 T A 9: 53,151,786 (GRCm39) T80S probably damaging Het
Dmtn G A 14: 70,854,768 (GRCm39) T69I probably damaging Het
Dnah5 T A 15: 28,370,524 (GRCm39) H2821Q probably damaging Het
Fam162b T A 10: 51,466,572 (GRCm39) probably benign Het
Fam193b A C 13: 55,690,612 (GRCm39) S717A probably benign Het
Far2 T C 6: 148,082,493 (GRCm39) F500L unknown Het
Focad T A 4: 88,192,435 (GRCm39) V588D unknown Het
Gm12728 T C 4: 105,651,593 (GRCm39) F68L probably damaging Het
Gm1527 T A 3: 28,974,621 (GRCm39) M478K probably benign Het
Gm57858 T A 3: 36,080,070 (GRCm39) D229V possibly damaging Het
Gpd2 A T 2: 57,230,171 (GRCm39) I308F probably damaging Het
Igf2bp3 T C 6: 49,085,933 (GRCm39) T249A probably benign Het
Igfn1 C A 1: 135,889,746 (GRCm39) V2434F probably damaging Het
Inhca G A 9: 103,156,680 (GRCm39) Q127* probably null Het
Kdm5a C A 6: 120,382,879 (GRCm39) Q737K probably benign Het
Khdrbs2 T C 1: 32,372,685 (GRCm39) S120P unknown Het
Lmx1a T C 1: 167,519,609 (GRCm39) F46L probably damaging Het
Lrba C G 3: 86,232,381 (GRCm39) T776R probably damaging Het
Lrrc8c A G 5: 105,755,701 (GRCm39) N492S possibly damaging Het
Mapk3 A T 7: 126,363,967 (GRCm39) I365F Het
Mcee A G 7: 64,061,657 (GRCm39) I153M possibly damaging Het
Mllt3 T C 4: 87,710,180 (GRCm39) D415G possibly damaging Het
Muc4 A T 16: 32,575,740 (GRCm39) T1747S unknown Het
Myh14 A T 7: 44,310,466 (GRCm39) V139E probably damaging Het
Myo10 A T 15: 25,779,706 (GRCm39) I772L probably benign Het
Naa15 T G 3: 51,367,268 (GRCm39) probably null Het
Nbeal1 T A 1: 60,283,969 (GRCm39) I841N probably damaging Het
Nf1 C T 11: 79,437,102 (GRCm39) T2006I probably damaging Het
Npr2 T A 4: 43,641,254 (GRCm39) W427R probably damaging Het
Nr1h3 A T 2: 91,020,540 (GRCm39) F324L possibly damaging Het
Obscn T C 11: 58,947,740 (GRCm39) K4430E Het
Or1e1d-ps1 T A 11: 73,819,013 (GRCm39) Y61N possibly damaging Het
Or5ac21 A G 16: 59,124,391 (GRCm39) R292G probably damaging Het
Or6c2 A T 10: 129,362,530 (GRCm39) T145S probably benign Het
Or6d13 T C 6: 116,517,894 (GRCm39) L160P probably benign Het
Osgin1 T A 8: 120,172,170 (GRCm39) H321Q probably benign Het
P4ha1 A G 10: 59,186,273 (GRCm39) I251V probably benign Het
Padi2 G A 4: 140,644,997 (GRCm39) W77* probably null Het
Pkd1 T A 17: 24,800,616 (GRCm39) I3086N probably damaging Het
Plk3 T C 4: 116,988,350 (GRCm39) N360S probably benign Het
Prr14 A T 7: 127,075,614 (GRCm39) S541C probably null Het
Ptch2 C A 4: 116,971,843 (GRCm39) Q1122K possibly damaging Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Rad50 T C 11: 53,586,223 (GRCm39) I258V probably benign Het
Rapgef3 G T 15: 97,664,672 (GRCm39) R64S probably benign Het
Rbm44 A G 1: 91,079,938 (GRCm39) N42S possibly damaging Het
Ring1 T C 17: 34,240,694 (GRCm39) Y361C probably damaging Het
Robo3 T C 9: 37,329,852 (GRCm39) T1155A probably damaging Het
Rsf1 GGCGG GGCGGTGGCCGCGG 7: 97,229,122 (GRCm39) probably benign Het
Ryr3 T C 2: 112,470,502 (GRCm39) T4682A probably damaging Het
Scart1 A T 7: 139,804,790 (GRCm39) N598Y possibly damaging Het
Sema7a T C 9: 57,868,847 (GRCm39) V653A unknown Het
Slc16a13 T C 11: 70,110,105 (GRCm39) Y132C probably damaging Het
Slc24a1 A G 9: 64,855,815 (GRCm39) V364A unknown Het
Slc8a2 C T 7: 15,868,278 (GRCm39) A170V probably damaging Het
Slfn8 C T 11: 82,894,566 (GRCm39) R691Q not run Het
Snx2 T C 18: 53,327,640 (GRCm39) V122A probably benign Het
Sstr1 A T 12: 58,260,066 (GRCm39) M230L probably benign Het
Themis2 C T 4: 132,513,528 (GRCm39) V233I possibly damaging Het
Tmem106b T C 6: 13,078,167 (GRCm39) S121P probably damaging Het
Tmem63c A G 12: 87,124,722 (GRCm39) I529V probably benign Het
Tmem94 T C 11: 115,686,971 (GRCm39) probably null Het
Trmt10c A T 16: 55,854,619 (GRCm39) W339R probably damaging Het
Vmn2r91 T A 17: 18,356,838 (GRCm39) L835* probably null Het
Vps52 C A 17: 34,177,283 (GRCm39) N108K possibly damaging Het
Wdpcp T A 11: 21,661,585 (GRCm39) C286S possibly damaging Het
Zfp959 T A 17: 56,205,551 (GRCm39) H529Q possibly damaging Het
Other mutations in Ugt2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Ugt2b1 APN 5 87,073,817 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers
Posted On 2019-09-13