Incidental Mutation 'R5722:Ugt2b36'
ID 452257
Institutional Source Beutler Lab
Gene Symbol Ugt2b36
Ensembl Gene ENSMUSG00000070704
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B36
Synonyms
MMRRC Submission 043340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 87213786-87240414 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 87240297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 29 (W29*)
Ref Sequence ENSEMBL: ENSMUSP00000123024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094649] [ENSMUST00000132667] [ENSMUST00000145617]
AlphaFold Q3UEP4
Predicted Effect probably null
Transcript: ENSMUST00000094649
AA Change: W29*
SMART Domains Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: W29*

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 null
Transcript: ENSMUST00000132667
AA Change: W29*
SMART Domains Protein: ENSMUSP00000123024
Gene: ENSMUSG00000070704
AA Change: W29*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199725
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Agtr1a A G 13: 30,566,016 (GRCm39) *360W probably null Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cndp2 T A 18: 84,686,203 (GRCm39) K461* probably null Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Irf2 A T 8: 47,271,831 (GRCm39) E101D possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or51a43 T A 7: 103,717,930 (GRCm39) M103L probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Rbm46 A G 3: 82,772,640 (GRCm39) V164A possibly damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Smgc T A 15: 91,726,109 (GRCm39) S18R possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Thoc3 G T 13: 54,608,014 (GRCm39) T310N probably damaging Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null 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
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'- ACCTCATAAGTCCATCTTTCCACAG -3'
(R):5'- CCACCAACACAGTAATGTTCATTTC -3'

Sequencing Primer
(F):5'- CACAGCCTTTGCAAAAATAATTTCC -3'
(R):5'- ATGTTCATTTCCTTATCAGCTTTGAG -3'
Posted On 2017-01-03