Incidental Mutation 'R1660:Ugt2b5'
ID 186653
Institutional Source Beutler Lab
Gene Symbol Ugt2b5
Ensembl Gene ENSMUSG00000054630
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B5
Synonyms Udpgt-3, m-1
MMRRC Submission 039696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1660 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 87272819-87288177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87287477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 230 (D230V)
Ref Sequence ENSEMBL: ENSMUSP00000068282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067790]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067790
AA Change: D230V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: D230V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 7.9e-256 PFAM
Pfam:Glyco_tran_28_C 352 449 5.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113327
AA Change: D241V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
AA Change: D241V

DomainStartEndE-ValueType
Pfam:UDPGT 35 538 1.3e-259 PFAM
Pfam:Glyco_tran_28_C 341 460 4.3e-8 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C A 19: 31,870,507 (GRCm39) S3* probably null Het
Adgrv1 C T 13: 81,624,750 (GRCm39) V3740I probably benign Het
Aida T C 1: 183,079,127 (GRCm39) F22S probably damaging Het
Ankrd65 A T 4: 155,876,528 (GRCm39) D220V probably damaging Het
Antxr2 A T 5: 98,123,209 (GRCm39) C279* probably null Het
Ap3b1 T C 13: 94,545,320 (GRCm39) V191A probably damaging Het
Arhgef28 T C 13: 98,117,884 (GRCm39) K595E probably benign Het
Atp12a A G 14: 56,608,305 (GRCm39) T98A probably benign Het
Cdcp1 A T 9: 123,014,427 (GRCm39) S116T probably benign Het
Chrm1 T C 19: 8,656,582 (GRCm39) F429S possibly damaging Het
Ckap5 C A 2: 91,393,303 (GRCm39) Q395K possibly damaging Het
Cntn4 T A 6: 106,656,258 (GRCm39) I853K probably benign Het
Cyp2g1 G A 7: 26,509,107 (GRCm39) probably null Het
Dhx57 C T 17: 80,553,157 (GRCm39) V1257I possibly damaging Het
Disp1 A T 1: 182,869,306 (GRCm39) V1038D probably damaging Het
Dmxl2 A T 9: 54,358,314 (GRCm39) S462T possibly damaging Het
Dnaaf10 A T 11: 17,177,183 (GRCm39) E180D probably benign Het
Exoc3l A G 8: 106,019,692 (GRCm39) probably null Het
Fam210a T C 18: 68,409,167 (GRCm39) T48A probably benign Het
Fbxw5 G A 2: 25,393,286 (GRCm39) probably null Het
Fkbp9 T C 6: 56,850,434 (GRCm39) C437R probably damaging Het
Gpc5 A G 14: 115,636,691 (GRCm39) K458R probably benign Het
Grik2 C A 10: 49,120,439 (GRCm39) G56* probably null Het
Igsf10 T C 3: 59,238,706 (GRCm39) T492A probably damaging Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Lrrc51 T C 7: 101,562,645 (GRCm39) Y145C probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mapkbp1 A T 2: 119,849,029 (GRCm39) I682F possibly damaging Het
Mttp A T 3: 137,808,954 (GRCm39) V718D probably damaging Het
Myt1l T A 12: 29,945,272 (GRCm39) D1012E unknown Het
Nbn G A 4: 15,971,771 (GRCm39) G301D probably benign Het
Ncstn T A 1: 171,894,339 (GRCm39) S677C possibly damaging Het
Nod1 C A 6: 54,921,218 (GRCm39) probably null Het
Nos1ap A G 1: 170,342,206 (GRCm39) V52A possibly damaging Het
Or51f2 T G 7: 102,526,863 (GRCm39) Y179D probably damaging Het
Or52z14 T A 7: 103,252,882 (GRCm39) L7* probably null Het
Or5b98 T A 19: 12,931,055 (GRCm39) I34N probably damaging Het
Or5h23 T A 16: 58,906,706 (GRCm39) I47F probably benign Het
Phf13 T C 4: 152,076,962 (GRCm39) I77V probably benign Het
Pias2 A G 18: 77,207,825 (GRCm39) K230E probably damaging Het
Poli A G 18: 70,642,535 (GRCm39) L469P probably damaging Het
Prag1 A T 8: 36,607,177 (GRCm39) T973S possibly damaging Het
Prpf40b C A 15: 99,203,442 (GRCm39) H101Q probably damaging Het
Prss50 T C 9: 110,691,557 (GRCm39) V287A possibly damaging Het
Rbm25 C T 12: 83,714,924 (GRCm39) probably benign Het
Rcor2 T C 19: 7,246,337 (GRCm39) V4A probably damaging Het
Rnf180 T C 13: 105,407,499 (GRCm39) T17A probably benign Het
Robo3 A T 9: 37,340,440 (GRCm39) V179E probably damaging Het
Sacs T A 14: 61,446,458 (GRCm39) S2835T probably damaging Het
Serpinb3c T A 1: 107,199,432 (GRCm39) H363L probably damaging Het
Setd1a T C 7: 127,395,841 (GRCm39) probably benign Het
Skp2 A C 15: 9,125,201 (GRCm39) V126G probably benign Het
Snph G A 2: 151,436,398 (GRCm39) Q108* probably null Het
Snrpa1 T A 7: 65,719,246 (GRCm39) V144E probably damaging Het
Tifab T C 13: 56,324,248 (GRCm39) E65G probably damaging Het
Tmem201 A T 4: 149,804,032 (GRCm39) Y468N probably damaging Het
Tpcn1 T C 5: 120,687,580 (GRCm39) N388S possibly damaging Het
Tssk4 A G 14: 55,888,029 (GRCm39) Q75R probably null Het
Tuba4a T C 1: 75,192,547 (GRCm39) N356D probably benign Het
Ush2a T C 1: 188,648,261 (GRCm39) V4622A probably benign Het
Vmn2r11 T G 5: 109,201,724 (GRCm39) Y260S possibly damaging Het
Vmn2r89 C A 14: 51,693,693 (GRCm39) H348N possibly damaging Het
Vmn2r96 A T 17: 18,817,988 (GRCm39) M714L probably benign Het
Zbtb18 T C 1: 177,275,329 (GRCm39) S221P probably benign Het
Zfp418 A G 7: 7,184,789 (GRCm39) T251A probably benign Het
Zmynd15 A G 11: 70,354,328 (GRCm39) Y267C probably damaging Het
Other mutations in Ugt2b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Ugt2b5 APN 5 87,273,078 (GRCm39) missense probably benign 0.02
IGL00742:Ugt2b5 APN 5 87,275,673 (GRCm39) missense probably damaging 1.00
IGL01527:Ugt2b5 APN 5 87,284,068 (GRCm39) missense possibly damaging 0.71
IGL01530:Ugt2b5 APN 5 87,285,104 (GRCm39) missense probably benign 0.08
IGL01637:Ugt2b5 APN 5 87,287,759 (GRCm39) missense probably benign 0.04
IGL02371:Ugt2b5 APN 5 87,275,535 (GRCm39) critical splice donor site probably null
IGL02993:Ugt2b5 APN 5 87,285,091 (GRCm39) missense probably damaging 1.00
IGL03114:Ugt2b5 APN 5 87,276,209 (GRCm39) missense probably damaging 1.00
R0372:Ugt2b5 UTSW 5 87,288,117 (GRCm39) missense probably benign 0.05
R0568:Ugt2b5 UTSW 5 87,285,224 (GRCm39) critical splice acceptor site probably benign
R0650:Ugt2b5 UTSW 5 87,287,627 (GRCm39) missense probably benign 0.00
R1907:Ugt2b5 UTSW 5 87,287,489 (GRCm39) missense probably benign 0.19
R1955:Ugt2b5 UTSW 5 87,275,631 (GRCm39) missense probably benign 0.18
R2389:Ugt2b5 UTSW 5 87,275,541 (GRCm39) missense probably damaging 0.98
R2435:Ugt2b5 UTSW 5 87,287,465 (GRCm39) missense probably damaging 0.99
R2919:Ugt2b5 UTSW 5 87,273,266 (GRCm39) missense possibly damaging 0.83
R2920:Ugt2b5 UTSW 5 87,273,266 (GRCm39) missense possibly damaging 0.83
R4342:Ugt2b5 UTSW 5 87,287,582 (GRCm39) missense probably damaging 1.00
R4343:Ugt2b5 UTSW 5 87,287,582 (GRCm39) missense probably damaging 1.00
R4344:Ugt2b5 UTSW 5 87,287,582 (GRCm39) missense probably damaging 1.00
R4355:Ugt2b5 UTSW 5 87,287,622 (GRCm39) nonsense probably null
R4380:Ugt2b5 UTSW 5 87,275,753 (GRCm39) missense probably damaging 1.00
R4789:Ugt2b5 UTSW 5 87,287,550 (GRCm39) missense probably benign 0.14
R4993:Ugt2b5 UTSW 5 87,287,532 (GRCm39) missense probably benign 0.00
R5731:Ugt2b5 UTSW 5 87,288,111 (GRCm39) nonsense probably null
R6035:Ugt2b5 UTSW 5 87,287,541 (GRCm39) missense probably benign 0.09
R6035:Ugt2b5 UTSW 5 87,287,541 (GRCm39) missense probably benign 0.09
R6491:Ugt2b5 UTSW 5 87,273,328 (GRCm39) nonsense probably null
R7015:Ugt2b5 UTSW 5 87,287,655 (GRCm39) missense probably damaging 1.00
R7203:Ugt2b5 UTSW 5 87,276,258 (GRCm39) missense possibly damaging 0.72
R7212:Ugt2b5 UTSW 5 87,273,131 (GRCm39) missense probably benign 0.06
R7750:Ugt2b5 UTSW 5 87,288,108 (GRCm39) missense probably benign 0.11
R8384:Ugt2b5 UTSW 5 87,287,924 (GRCm39) missense probably benign
R8465:Ugt2b5 UTSW 5 87,287,518 (GRCm39) missense possibly damaging 0.79
R9336:Ugt2b5 UTSW 5 87,285,130 (GRCm39) missense probably benign 0.00
R9678:Ugt2b5 UTSW 5 87,273,186 (GRCm39) missense probably damaging 1.00
R9682:Ugt2b5 UTSW 5 87,287,522 (GRCm39) missense probably damaging 0.97
R9727:Ugt2b5 UTSW 5 87,288,165 (GRCm39) start codon destroyed probably damaging 0.97
X0004:Ugt2b5 UTSW 5 87,276,230 (GRCm39) nonsense probably null
X0021:Ugt2b5 UTSW 5 87,284,070 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCAATTTTGAGCCACTGTGCATGAG -3'
(R):5'- GCTACCAAATTGAAAAGTCCAGCGG -3'

Sequencing Primer
(F):5'- AGGACTGATACTGATACCTTCTCCTG -3'
(R):5'- CCTGTAATTCTGTCAGGATTAGGTGG -3'
Posted On 2014-05-09