Incidental Mutation 'R5244:Ugt2b36'
ID 401041
Institutional Source Beutler Lab
Gene Symbol Ugt2b36
Ensembl Gene ENSMUSG00000070704
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B36
Synonyms
MMRRC Submission 042815-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5244 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 87213786-87240414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87239765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 207 (T207A)
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: T207A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: T207A

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik G T 9: 53,323,098 (GRCm39) G45W probably damaging Het
Abca13 C T 11: 9,225,081 (GRCm39) T520I probably benign Het
Adamtsl3 C T 7: 82,247,277 (GRCm39) P485L probably benign Het
Bbof1 A C 12: 84,476,847 (GRCm39) E492A possibly damaging Het
Capn11 T C 17: 45,944,818 (GRCm39) E483G probably damaging Het
Cbs C T 17: 31,836,134 (GRCm39) G438D probably damaging Het
Chil6 A G 3: 106,297,290 (GRCm39) Y284H probably damaging Het
Cops4 C A 5: 100,681,241 (GRCm39) Q131K probably benign Het
Cul4a T C 8: 13,196,566 (GRCm39) I740T probably damaging Het
Cyfip1 C T 7: 55,574,947 (GRCm39) T1066I probably damaging Het
Dnah7b T C 1: 46,273,018 (GRCm39) L2382P probably damaging Het
Ehd3 A T 17: 74,136,995 (GRCm39) H388L probably benign Het
Fam13a G T 6: 58,930,459 (GRCm39) Y484* probably null Het
Gm5117 A G 8: 32,228,305 (GRCm39) noncoding transcript Het
Gulp1 G A 1: 44,827,613 (GRCm39) D260N probably damaging Het
Hhipl1 T A 12: 108,278,393 (GRCm39) N240K probably damaging Het
Hydin A T 8: 111,259,451 (GRCm39) E2474D possibly damaging Het
Ifi207 C T 1: 173,557,503 (GRCm39) V412I probably benign Het
Ighv9-4 T C 12: 114,263,871 (GRCm39) I21V probably benign Het
Kcnh1 A T 1: 191,907,184 (GRCm39) T79S probably benign Het
Kpna6 A G 4: 129,549,221 (GRCm39) probably null Het
Lnpk C T 2: 74,362,232 (GRCm39) G262D probably damaging Het
Lsm7 T C 10: 80,688,907 (GRCm39) E66G probably benign Het
Mbd3l1 T A 9: 18,395,933 (GRCm39) C19* probably null Het
Mfsd6l T A 11: 68,448,001 (GRCm39) L284Q possibly damaging Het
Naip5 C T 13: 100,382,170 (GRCm39) V180I probably benign Het
Or2ag1b T A 7: 106,288,396 (GRCm39) I181F probably benign Het
Or2j6 A T 7: 139,980,051 (GRCm39) C303S probably benign Het
Or4k39 T A 2: 111,238,899 (GRCm39) noncoding transcript Het
Or6d13 T A 6: 116,518,187 (GRCm39) Y258N probably damaging Het
Or7g22 A T 9: 19,049,147 (GRCm39) N286I probably damaging Het
Or8g20 T G 9: 39,395,808 (GRCm39) H247P probably damaging Het
Or8u10 C G 2: 85,915,300 (GRCm39) A274P probably damaging Het
Pck1 T A 2: 172,996,656 (GRCm39) I190N possibly damaging Het
Pfkfb3 T A 2: 11,489,660 (GRCm39) I209F probably damaging Het
Phc1 A G 6: 122,298,938 (GRCm39) S677P probably damaging Het
Pirb G A 7: 3,719,062 (GRCm39) A609V probably benign Het
Plag1 A T 4: 3,903,887 (GRCm39) S435T probably benign Het
Plscr2 C G 9: 92,173,102 (GRCm39) L215V probably benign Het
Pnma8a A G 7: 16,695,248 (GRCm39) S368G probably damaging Het
Polr2b A G 5: 77,490,847 (GRCm39) probably benign Het
Pthlh T C 6: 147,158,651 (GRCm39) Y103C probably damaging Het
Ptprq A G 10: 107,422,556 (GRCm39) V1612A possibly damaging Het
Rprd2 T A 3: 95,697,494 (GRCm39) I85L possibly damaging Het
Slc27a2 T C 2: 126,420,775 (GRCm39) V422A probably benign Het
Slc29a1 T C 17: 45,899,339 (GRCm39) probably benign Het
Slc36a4 A T 9: 15,645,574 (GRCm39) I334F probably benign Het
Slc4a10 T A 2: 62,119,069 (GRCm39) S761R probably damaging Het
Spa17 T A 9: 37,523,285 (GRCm39) M1L probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stk19 A G 17: 35,051,046 (GRCm39) L72P probably damaging Het
Trhde T C 10: 114,636,986 (GRCm39) M74V probably benign Het
Trim37 C T 11: 87,109,083 (GRCm39) H937Y probably benign Het
Ttc7b A G 12: 100,314,269 (GRCm39) L46P probably damaging Het
Ttll4 T C 1: 74,735,607 (GRCm39) V1005A probably benign Het
Unc13c C T 9: 73,433,233 (GRCm39) probably null Het
Vmn1r221 T C 13: 23,401,808 (GRCm39) noncoding transcript Het
Vmn2r101 T C 17: 19,831,788 (GRCm39) S595P probably damaging Het
Wnt10a T C 1: 74,842,454 (GRCm39) L310P probably damaging Het
Yif1b G A 7: 28,943,866 (GRCm39) A115T probably damaging Het
Zfp219 C A 14: 52,245,999 (GRCm39) R331L possibly 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
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
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'- GACGACCTGTAAAAGTCTTCAC -3'
(R):5'- CTCCAGGAATCCAAGTTTGATGTC -3'

Sequencing Primer
(F):5'- TGCACTTAATGGAAATGCATCC -3'
(R):5'- CATTTTGTCAGATGCTATTGGTCC -3'
Posted On 2016-07-06