Incidental Mutation 'R4626:Ugt2b36'
ID 348769
Institutional Source Beutler Lab
Gene Symbol Ugt2b36
Ensembl Gene ENSMUSG00000070704
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B36
Synonyms
MMRRC Submission 041891-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R4626 (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 C at 87239947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 146 (F146C)
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: F146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: F146C

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,313,784 (GRCm39) *527G probably null Het
Abca17 A T 17: 24,540,058 (GRCm39) I390N probably damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd49 A C 9: 14,693,936 (GRCm39) L77R probably damaging Het
Ap3b1 T A 13: 94,540,586 (GRCm39) N169K possibly damaging Het
Arhgap39 A C 15: 76,621,837 (GRCm39) F255V possibly damaging Het
Atp1a3 T A 7: 24,698,193 (GRCm39) N171I possibly damaging Het
Atp9a T C 2: 168,481,863 (GRCm39) D953G probably damaging Het
Atxn1 T C 13: 45,720,575 (GRCm39) Y440C probably damaging Het
Bccip T C 7: 133,322,457 (GRCm39) Y268H possibly damaging Het
Brms1l C A 12: 55,909,958 (GRCm39) P243T probably benign Het
Btbd10 T C 7: 112,927,605 (GRCm39) E250G probably damaging Het
Cacna1e T C 1: 154,358,294 (GRCm39) probably null Het
Cfhr2 A T 1: 139,741,314 (GRCm39) N220K probably damaging Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
D5Ertd579e T C 5: 36,771,903 (GRCm39) I831V possibly damaging Het
F2 T A 2: 91,461,015 (GRCm39) N239I probably benign Het
Fbln5 T A 12: 101,727,086 (GRCm39) D301V probably damaging Het
Fbn2 A T 18: 58,146,819 (GRCm39) C2692* probably null Het
Fhdc1 C T 3: 84,381,557 (GRCm39) D34N probably damaging Het
Galnt13 T A 2: 54,747,878 (GRCm39) M253K probably damaging Het
Gpc6 C A 14: 118,202,255 (GRCm39) Y488* probably null Het
Grm5 G T 7: 87,779,361 (GRCm39) G934C probably damaging Het
Gys1 T C 7: 45,088,958 (GRCm39) L119S probably damaging Het
H2-T15 CTGGGTG CTG 17: 36,368,788 (GRCm39) probably null Het
Htra4 T C 8: 25,527,130 (GRCm39) N222D probably benign Het
Iba57 A G 11: 59,049,287 (GRCm39) V294A probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama5 G A 2: 179,826,253 (GRCm39) T2330M probably damaging Het
Lrguk G A 6: 34,106,158 (GRCm39) E728K probably benign Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mettl18 T A 1: 163,824,045 (GRCm39) V122E probably damaging Het
Mindy2 G A 9: 70,534,063 (GRCm39) S378L probably damaging Het
Mis18bp1 G T 12: 65,187,540 (GRCm39) F854L probably damaging Het
Mtdh C T 15: 34,114,980 (GRCm39) R106* probably null Het
Nup214 T A 2: 31,923,416 (GRCm39) V1315E possibly damaging Het
Nup58 A G 14: 60,476,004 (GRCm39) V271A probably benign Het
Or1j1 A G 2: 36,702,271 (GRCm39) Y278H probably damaging Het
Or4c101 T C 2: 88,390,176 (GRCm39) V121A possibly damaging Het
Or6f2 T C 7: 139,756,359 (GRCm39) S109P probably damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pcdha11 A T 18: 37,140,051 (GRCm39) N560I probably damaging Het
Pcdhb9 T A 18: 37,535,302 (GRCm39) F432Y probably benign Het
Peg10 GGATCC GGATCCCCATCAAGATCC 6: 4,756,460 (GRCm39) probably benign Het
Poll C A 19: 45,543,563 (GRCm39) M385I probably benign Het
Pomt1 A G 2: 32,144,424 (GRCm39) K737E possibly damaging Het
Prr16 C T 18: 51,435,911 (GRCm39) T130I probably damaging Het
Ptpn18 A G 1: 34,510,873 (GRCm39) probably null Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Scn10a A G 9: 119,460,571 (GRCm39) I1101T possibly damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Snx10 A G 6: 51,565,270 (GRCm39) D129G probably damaging Het
Stub1 A G 17: 26,050,845 (GRCm39) probably null Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Trmu T C 15: 85,779,186 (GRCm39) Y278H possibly damaging Het
Vav2 T C 2: 27,160,172 (GRCm39) I692V possibly damaging Het
Wdfy3 A G 5: 102,091,800 (GRCm39) L513P probably damaging Het
Zfhx4 T A 3: 5,467,699 (GRCm39) V2619D probably damaging Het
Zfyve26 T A 12: 79,315,844 (GRCm39) N1211Y possibly damaging Het
Zp3r A G 1: 130,542,912 (GRCm39) F142L probably damaging 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
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'- TGTCATTTGACCACTTAATCCTGAC -3'
(R):5'- AAATCGCCTGGCCTTAAGTTTG -3'

Sequencing Primer
(F):5'- CCACTTAATCCTGACAAAATTACAGG -3'
(R):5'- GTCATGGAAATTATTTTTGCAAAGGC -3'
Posted On 2015-10-08