Incidental Mutation 'R0370:Ugt2b36'
ID 30419
Institutional Source Beutler Lab
Gene Symbol Ugt2b36
Ensembl Gene ENSMUSG00000070704
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B36
Synonyms
MMRRC Submission 038576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R0370 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 87213786-87240414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87239834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 184 (Y184H)
Ref Sequence ENSEMBL: ENSMUSP00000092233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094649] [ENSMUST00000132667] [ENSMUST00000145617]
AlphaFold Q3UEP4
Predicted Effect probably benign
Transcript: ENSMUST00000094649
AA Change: Y184H

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: Y184H

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 6.9e-260 PFAM
Pfam:Glyco_tran_28_C 339 448 2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132667
SMART Domains Protein: ENSMUSP00000123024
Gene: ENSMUSG00000070704

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 105 1.1e-23 PFAM
Pfam:UDPGT 99 265 7.4e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145617
SMART Domains Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704

DomainStartEndE-ValueType
Pfam:UDPGT 22 249 2.1e-127 PFAM
Pfam:Glyco_tran_28_C 164 245 1.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154455
SMART Domains Protein: ENSMUSP00000120633
Gene: ENSMUSG00000070704

DomainStartEndE-ValueType
Pfam:UDPGT 1 198 1.2e-117 PFAM
Pfam:Glyco_tran_28_C 109 194 1.7e-9 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 124,228,293 (GRCm39) S666P probably damaging Het
B3gntl1 A T 11: 121,514,980 (GRCm39) W263R probably damaging Het
Carmil3 A G 14: 55,732,899 (GRCm39) N270S possibly damaging Het
Ctdp1 T C 18: 80,492,569 (GRCm39) E642G probably damaging Het
Cyp2b9 A T 7: 25,909,531 (GRCm39) K433M probably damaging Het
Dcc A G 18: 71,721,056 (GRCm39) V435A possibly damaging Het
Defa26 A T 8: 22,108,875 (GRCm39) M87L probably benign Het
Dnah11 T A 12: 117,958,962 (GRCm39) I2974L probably benign Het
Dnah3 T C 7: 119,685,943 (GRCm39) D131G possibly damaging Het
Dock6 A T 9: 21,725,861 (GRCm39) S1447R probably benign Het
Dtl G T 1: 191,307,462 (GRCm39) N17K probably benign Het
Grid2 A G 6: 64,322,718 (GRCm39) I573V possibly damaging Het
Hoxa9 T C 6: 52,202,684 (GRCm39) E134G possibly damaging Het
Kcnn3 A T 3: 89,574,399 (GRCm39) N637I probably damaging Het
Ktn1 T C 14: 47,901,532 (GRCm39) F97L probably benign Het
Lmbrd2 T C 15: 9,165,939 (GRCm39) I271T probably damaging Het
Lrp6 A C 6: 134,456,729 (GRCm39) I845S probably damaging Het
Med13l T A 5: 118,879,891 (GRCm39) N994K probably benign Het
Mrrf A T 2: 36,067,125 (GRCm39) probably null Het
Mtmr1 G A X: 70,431,837 (GRCm39) V125I probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Or13g1 T A 7: 85,956,057 (GRCm39) N88I probably benign Het
Or51k1 T G 7: 103,661,266 (GRCm39) L214F probably damaging Het
Or8k3 A T 2: 86,059,057 (GRCm39) V86D probably damaging Het
Paxip1 C A 5: 27,965,084 (GRCm39) V659F probably damaging Het
Pclo T C 5: 14,571,104 (GRCm39) V163A probably damaging Het
Pkn3 T A 2: 29,977,184 (GRCm39) H641Q probably damaging Het
Plekhg6 G A 6: 125,347,623 (GRCm39) R444C probably damaging Het
Rfx2 T C 17: 57,106,308 (GRCm39) E175G probably benign Het
Samd9l A C 6: 3,377,264 (GRCm39) probably benign Het
Sec14l5 A T 16: 4,998,570 (GRCm39) T537S probably damaging Het
Serpinb9d A G 13: 33,379,949 (GRCm39) E96G probably damaging Het
Setd4 T C 16: 93,388,006 (GRCm39) E160G probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc16a4 A G 3: 107,208,413 (GRCm39) I308V possibly damaging Het
Slco2b1 T A 7: 99,339,644 (GRCm39) N100Y probably damaging Het
Sptbn1 A T 11: 30,071,545 (GRCm39) S1475R probably benign Het
Tecta T C 9: 42,278,100 (GRCm39) D1136G probably benign Het
Tmem94 G C 11: 115,679,543 (GRCm39) R273S probably damaging Het
Tns3 A G 11: 8,395,730 (GRCm39) S1225P possibly damaging Het
Vmn2r59 A T 7: 41,662,150 (GRCm39) M555K probably benign Het
Other mutations in Ugt2b36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Ugt2b36 APN 5 87,229,440 (GRCm39) missense possibly damaging 0.73
IGL01024:Ugt2b36 APN 5 87,228,728 (GRCm39) critical splice donor site probably null
IGL01295:Ugt2b36 APN 5 87,228,744 (GRCm39) missense probably damaging 1.00
IGL01331:Ugt2b36 APN 5 87,238,801 (GRCm39) missense probably damaging 1.00
IGL02597:Ugt2b36 APN 5 87,228,783 (GRCm39) missense probably damaging 1.00
IGL02967:Ugt2b36 APN 5 87,238,759 (GRCm39) missense possibly damaging 0.48
IGL03053:Ugt2b36 APN 5 87,239,933 (GRCm39) missense possibly damaging 0.95
R0616:Ugt2b36 UTSW 5 87,237,336 (GRCm39) missense probably benign 0.01
R0827:Ugt2b36 UTSW 5 87,214,234 (GRCm39) missense possibly damaging 0.83
R0885:Ugt2b36 UTSW 5 87,239,848 (GRCm39) missense probably benign 0.03
R1471:Ugt2b36 UTSW 5 87,239,930 (GRCm39) missense probably damaging 1.00
R1567:Ugt2b36 UTSW 5 87,240,258 (GRCm39) missense probably damaging 1.00
R1782:Ugt2b36 UTSW 5 87,229,440 (GRCm39) missense possibly damaging 0.73
R1974:Ugt2b36 UTSW 5 87,228,727 (GRCm39) critical splice donor site probably null
R2065:Ugt2b36 UTSW 5 87,240,100 (GRCm39) missense probably benign 0.03
R2066:Ugt2b36 UTSW 5 87,240,100 (GRCm39) missense probably benign 0.03
R2068:Ugt2b36 UTSW 5 87,240,100 (GRCm39) missense probably benign 0.03
R2111:Ugt2b36 UTSW 5 87,240,100 (GRCm39) missense probably benign 0.03
R2272:Ugt2b36 UTSW 5 87,214,114 (GRCm39) missense possibly damaging 0.65
R2696:Ugt2b36 UTSW 5 87,237,344 (GRCm39) missense probably damaging 1.00
R4626:Ugt2b36 UTSW 5 87,239,947 (GRCm39) missense probably damaging 1.00
R4700:Ugt2b36 UTSW 5 87,240,301 (GRCm39) critical splice donor site probably null
R4731:Ugt2b36 UTSW 5 87,229,397 (GRCm39) nonsense probably null
R4732:Ugt2b36 UTSW 5 87,229,397 (GRCm39) nonsense probably null
R4733:Ugt2b36 UTSW 5 87,229,397 (GRCm39) nonsense probably null
R4922:Ugt2b36 UTSW 5 87,214,183 (GRCm39) missense probably damaging 1.00
R5217:Ugt2b36 UTSW 5 87,214,114 (GRCm39) missense probably damaging 0.97
R5244:Ugt2b36 UTSW 5 87,239,765 (GRCm39) missense probably damaging 0.99
R5341:Ugt2b36 UTSW 5 87,240,087 (GRCm39) nonsense probably null
R5478:Ugt2b36 UTSW 5 87,237,341 (GRCm39) missense probably damaging 1.00
R5572:Ugt2b36 UTSW 5 87,237,341 (GRCm39) missense possibly damaging 0.89
R5722:Ugt2b36 UTSW 5 87,240,297 (GRCm39) nonsense probably null
R5961:Ugt2b36 UTSW 5 87,228,724 (GRCm39) splice site probably null
R6034:Ugt2b36 UTSW 5 87,229,377 (GRCm39) missense probably damaging 1.00
R6034:Ugt2b36 UTSW 5 87,229,377 (GRCm39) missense probably damaging 1.00
R6139:Ugt2b36 UTSW 5 87,240,030 (GRCm39) missense probably benign
R6145:Ugt2b36 UTSW 5 87,214,072 (GRCm39) missense probably benign
R6226:Ugt2b36 UTSW 5 87,239,989 (GRCm39) missense probably damaging 0.99
R6531:Ugt2b36 UTSW 5 87,229,445 (GRCm39) missense probably damaging 1.00
R6704:Ugt2b36 UTSW 5 87,239,990 (GRCm39) missense probably damaging 1.00
R6895:Ugt2b36 UTSW 5 87,240,157 (GRCm39) missense probably benign 0.06
R7218:Ugt2b36 UTSW 5 87,229,398 (GRCm39) missense probably damaging 1.00
R7258:Ugt2b36 UTSW 5 87,228,762 (GRCm39) missense probably damaging 1.00
R7310:Ugt2b36 UTSW 5 87,214,138 (GRCm39) missense possibly damaging 0.94
R7650:Ugt2b36 UTSW 5 87,228,831 (GRCm39) missense probably damaging 1.00
R7707:Ugt2b36 UTSW 5 87,229,367 (GRCm39) critical splice donor site probably null
R7866:Ugt2b36 UTSW 5 87,240,190 (GRCm39) missense probably damaging 1.00
R7967:Ugt2b36 UTSW 5 87,214,236 (GRCm39) missense probably damaging 1.00
R7985:Ugt2b36 UTSW 5 87,239,983 (GRCm39) missense probably damaging 1.00
R8098:Ugt2b36 UTSW 5 87,240,252 (GRCm39) missense probably benign 0.02
R8123:Ugt2b36 UTSW 5 87,240,295 (GRCm39) missense probably damaging 1.00
R9294:Ugt2b36 UTSW 5 87,228,876 (GRCm39) missense probably damaging 1.00
R9577:Ugt2b36 UTSW 5 87,228,784 (GRCm39) missense probably benign 0.09
R9630:Ugt2b36 UTSW 5 87,239,773 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- CCCAAAGTTTCGCTGTAAAACTGATCC -3'
(R):5'- ACTTAAACAGAAGGGCCATGAAGTCAC -3'

Sequencing Primer
(F):5'- CGCTGTAAAACTGATCCCATTTC -3'
(R):5'- TTCTTGATCCCAAAAAATCGCCTG -3'
Posted On 2013-04-24