Incidental Mutation 'R7650:Ugt2b36'
ID 590741
Institutional Source Beutler Lab
Gene Symbol Ugt2b36
Ensembl Gene ENSMUSG00000070704
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B36
Synonyms
MMRRC Submission 045727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7650 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 87213786-87240414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87228831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 404 (I404T)
Ref Sequence ENSEMBL: ENSMUSP00000092233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094649] [ENSMUST00000132667] [ENSMUST00000145617]
AlphaFold Q3UEP4
Predicted Effect probably damaging
Transcript: ENSMUST00000094649
AA Change: I404T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: I404T

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 damaging
Transcript: ENSMUST00000145617
AA Change: I205T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704
AA Change: I205T

DomainStartEndE-ValueType
Pfam:UDPGT 22 249 2.1e-127 PFAM
Pfam:Glyco_tran_28_C 164 245 1.7e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik G A 7: 30,399,214 (GRCm39) V3I probably benign Het
Adam33 T C 2: 130,903,067 (GRCm39) E59G probably damaging Het
Akap13 T A 7: 75,293,202 (GRCm39) V45E probably benign Het
Ap1s1 A G 5: 137,074,387 (GRCm39) S28P probably benign Het
Btnl2 T C 17: 34,577,103 (GRCm39) L86P probably damaging Het
Carm1 G A 9: 21,491,668 (GRCm39) V246I probably benign Het
Cdk5rap1 C T 2: 154,196,036 (GRCm39) D283N probably benign Het
Cfap58 C A 19: 47,974,967 (GRCm39) N709K possibly damaging Het
Col24a1 A G 3: 145,020,214 (GRCm39) D195G probably benign Het
Dcaf1 A G 9: 106,715,543 (GRCm39) D220G probably benign Het
Ddias C T 7: 92,508,143 (GRCm39) G591R probably benign Het
Defb22 A T 2: 152,328,023 (GRCm39) I54K probably benign Het
Dennd4b G A 3: 90,176,056 (GRCm39) W202* probably null Het
F2 T C 2: 91,458,741 (GRCm39) N523S possibly damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fanca A T 8: 123,995,303 (GRCm39) probably null Het
Fezf2 T C 14: 12,342,653 (GRCm38) H404R probably damaging Het
Fry A G 5: 150,336,883 (GRCm39) N1418S probably damaging Het
Gak A G 5: 108,732,161 (GRCm39) S776P probably benign Het
Gbf1 A G 19: 46,260,978 (GRCm39) H1181R probably damaging Het
Gdf9 G A 11: 53,327,925 (GRCm39) E294K probably benign Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm8206 T C 14: 6,055,211 (GRCm38) probably null Het
Gpr162 T A 6: 124,838,806 (GRCm39) probably benign Het
Gxylt1 C T 15: 93,143,539 (GRCm39) R363H probably benign Het
Hnrnph1 A T 11: 50,274,726 (GRCm39) M396L probably benign Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Ice1 T A 13: 70,753,602 (GRCm39) Q828L probably damaging Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Il10 A T 1: 130,949,192 (GRCm39) T118S probably benign Het
Itpr2 C T 6: 146,135,492 (GRCm39) R1813Q probably benign Het
Kbtbd12 T A 6: 88,595,530 (GRCm39) Q100L probably damaging Het
Kin A G 2: 10,096,979 (GRCm39) D276G possibly damaging Het
Klhl1 T C 14: 96,584,379 (GRCm39) T284A probably damaging Het
Kmt2d C T 15: 98,748,751 (GRCm39) A2858T unknown Het
Krt8 G A 15: 101,912,598 (GRCm39) T26M probably benign Het
Lama3 T A 18: 12,670,895 (GRCm39) M827K probably benign Het
Lingo3 T C 10: 80,671,597 (GRCm39) N111S probably damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Metap1 A G 3: 138,172,128 (GRCm39) V263A probably damaging Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Muc5ac A G 7: 141,363,159 (GRCm39) T2157A unknown Het
Myo1d G T 11: 80,492,510 (GRCm39) H748Q probably benign Het
Nfkbiz A T 16: 55,638,202 (GRCm39) N419K probably benign Het
Nol10 T C 12: 17,412,683 (GRCm39) probably null Het
Nrcam T C 12: 44,594,105 (GRCm39) L284P probably damaging Het
Nrp1 T A 8: 129,224,495 (GRCm39) W753R possibly damaging Het
Obscn A G 11: 58,951,820 (GRCm39) S3978P probably benign Het
Opa3 C A 7: 18,978,896 (GRCm39) N120K probably benign Het
Or5k17 T A 16: 58,746,416 (GRCm39) R173* probably null Het
Or8g53 A T 9: 39,683,169 (GRCm39) F309Y probably benign Het
Pabpc1l T C 2: 163,891,510 (GRCm39) L576S probably benign Het
Panx3 A G 9: 37,572,701 (GRCm39) L283S probably damaging Het
Pcdhb4 T A 18: 37,442,667 (GRCm39) V659E probably damaging Het
Pde4dip A T 3: 97,606,423 (GRCm39) probably null Het
Pkd1l3 T C 8: 110,399,217 (GRCm39) V2200A probably benign Het
Pkp3 G A 7: 140,662,283 (GRCm39) M112I probably benign Het
Prex2 T C 1: 11,220,078 (GRCm39) I683T possibly damaging Het
Psg22 C A 7: 18,460,684 (GRCm39) Q438K possibly damaging Het
Ptgir T C 7: 16,640,876 (GRCm39) V56A possibly damaging Het
Pus7 G T 5: 23,965,244 (GRCm39) T304K probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Ros1 C T 10: 51,922,305 (GRCm39) G2277D probably benign Het
Rpain A T 11: 70,861,271 (GRCm39) probably benign Het
Shh C A 5: 28,663,304 (GRCm39) S288I probably benign Het
Slc26a5 C T 5: 22,039,328 (GRCm39) V259M possibly damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Slit1 T A 19: 41,618,363 (GRCm39) N771I probably damaging Het
Stim1 T A 7: 102,078,034 (GRCm39) S179T Het
Syk A G 13: 52,765,131 (GRCm39) D86G probably benign Het
Tmem132b T G 5: 125,864,074 (GRCm39) S727A probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Trpm6 A T 19: 18,853,377 (GRCm39) D1799V possibly damaging Het
Ube4a A T 9: 44,844,734 (GRCm39) I839N probably damaging Het
Ushbp1 T A 8: 71,843,568 (GRCm39) Q290L possibly damaging Het
Vcl T A 14: 21,045,114 (GRCm39) I273K probably damaging Het
Vmn2r73 T A 7: 85,521,147 (GRCm39) I274L probably benign Het
Zc3h7b A G 15: 81,677,851 (GRCm39) D945G possibly damaging Het
Zfp454 A G 11: 50,774,580 (GRCm39) L31P probably damaging Het
Zfp536 C A 7: 37,269,117 (GRCm39) V100L probably damaging Het
Zfp942 A T 17: 22,147,818 (GRCm39) S270R 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
R0370:Ugt2b36 UTSW 5 87,239,834 (GRCm39) missense probably benign 0.04
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
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'- CTTCAGGAAGACGGGCAATG -3'
(R):5'- GAAAATCTCCTTTCAGTTCCAGGTAG -3'

Sequencing Primer
(F):5'- CGGGCAATGAATGAATAACTAACC -3'
(R):5'- CAGTTCCAGGTAGTATACAGGTCTC -3'
Posted On 2019-10-24