Incidental Mutation 'R4380:Ugt2b5'
ID 325290
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 041678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4380 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 87272819-87288177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87275753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 366 (H366L)
Ref Sequence ENSEMBL: ENSMUSP00000068282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067790]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067790
AA Change: H366L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: H366L

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
Meta Mutation Damage Score 0.9211 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik T C 7: 44,326,580 (GRCm39) noncoding transcript Het
Casc3 C A 11: 98,713,857 (GRCm39) P363Q possibly damaging Het
Cep162 C A 9: 87,082,056 (GRCm39) R1283L probably damaging Het
Clk3 C A 9: 57,659,075 (GRCm39) W562L probably damaging Het
Col17a1 G A 19: 47,645,529 (GRCm39) T844M possibly damaging Het
Dntt G C 19: 41,041,672 (GRCm39) G452A probably damaging Het
Dop1b G A 16: 93,513,120 (GRCm39) V20I possibly damaging Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
Dync1li2 A T 8: 105,154,798 (GRCm39) I270N probably damaging Het
Egflam A T 15: 7,273,350 (GRCm39) I575N possibly damaging Het
Gldc G T 19: 30,138,168 (GRCm39) probably benign Het
Gm17067 C A 7: 42,357,462 (GRCm39) V347L probably benign Het
Gmds T A 13: 32,101,679 (GRCm39) N304I probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Igfn1 T C 1: 135,895,509 (GRCm39) T1686A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamb3 A T 1: 193,013,683 (GRCm39) Q519L probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Macf1 A G 4: 123,248,285 (GRCm39) probably benign Het
Mcfd2 C G 17: 87,565,387 (GRCm39) G39R possibly damaging Het
Mecom T C 3: 30,041,219 (GRCm39) H125R probably damaging Het
Nme7 A G 1: 164,172,807 (GRCm39) T173A probably benign Het
Or4s2b A G 2: 88,508,615 (GRCm39) T132A possibly damaging Het
Or5ac15 C T 16: 58,940,027 (GRCm39) M135I probably benign Het
Pde1c T A 6: 56,049,263 (GRCm39) R683S probably null Het
Pkn2 A T 3: 142,536,217 (GRCm39) probably benign Het
Plppr4 T G 3: 117,116,046 (GRCm39) T604P probably benign Het
Pramel23 T A 4: 143,424,856 (GRCm39) I196F probably benign Het
Slc34a2 C T 5: 53,226,628 (GRCm39) P584S probably damaging Het
Slco5a1 A T 1: 13,009,392 (GRCm39) M361K probably damaging Het
Snx4 T A 16: 33,084,666 (GRCm39) I60N probably damaging Het
Sp6 T C 11: 96,912,572 (GRCm39) L95P probably damaging Het
Stat5b A G 11: 100,678,175 (GRCm39) F646S probably damaging Het
Tbc1d1 T C 5: 64,490,891 (GRCm39) M785T probably benign Het
Tbc1d22a T A 15: 86,235,935 (GRCm39) C365S probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Tnfsf8 A T 4: 63,779,264 (GRCm39) C11* probably null Het
Ttn A T 2: 76,748,485 (GRCm39) V4188E probably damaging Het
Wdr17 T C 8: 55,101,442 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,683,022 (GRCm39) Y3487C unknown Het
Zfp28 C T 7: 6,396,441 (GRCm39) T292I probably benign 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
R1660:Ugt2b5 UTSW 5 87,287,477 (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
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'- GAGCACATCTGACTTTGACATTG -3'
(R):5'- CTATGGATTTCATGTGTTCAACTGG -3'

Sequencing Primer
(F):5'- GTTCTGATATTCAATGCAACAGCTG -3'
(R):5'- TCATGTGTTCAACTGGAAATGAG -3'
Posted On 2015-07-06