Incidental Mutation 'IGL02993:Ugt2b5'
ID 407015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b5
Ensembl Gene ENSMUSG00000054630
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B5
Synonyms Udpgt-3, m-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02993
Quality Score
Status
Chromosome 5
Chromosomal Location 87124960-87140318 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87137232 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 282 (H282P)
Ref Sequence ENSEMBL: ENSMUSP00000068282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067790]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067790
AA Change: H282P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: H282P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 7.9e-256 PFAM
Pfam:Glyco_tran_28_C 352 449 5.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,719 (GRCm38) Y351H probably damaging Het
5830411N06Rik A G 7: 140,296,573 (GRCm38) T537A probably benign Het
Abcd3 A C 3: 121,774,010 (GRCm38) I434S probably benign Het
Actr2 C T 11: 20,072,514 (GRCm38) R319Q probably damaging Het
Atp13a5 G T 16: 29,293,504 (GRCm38) Y606* probably null Het
Baiap3 C T 17: 25,250,082 (GRCm38) probably null Het
Cers2 A G 3: 95,320,085 (GRCm38) Y8C probably benign Het
Ces1g T A 8: 93,317,079 (GRCm38) M411L probably benign Het
Chd6 A G 2: 161,052,384 (GRCm38) probably benign Het
Cyp2d40 C A 15: 82,761,521 (GRCm38) K94N probably benign Het
Ddx51 T C 5: 110,655,621 (GRCm38) V323A possibly damaging Het
Dock1 G A 7: 134,744,298 (GRCm38) V190I probably benign Het
Evc2 A G 5: 37,419,157 (GRCm38) T1042A probably benign Het
Fat4 T A 3: 38,957,155 (GRCm38) S2135T probably damaging Het
Gpat2 T C 2: 127,427,566 (GRCm38) F46S probably damaging Het
Klhl38 T A 15: 58,322,455 (GRCm38) K293* probably null Het
Map4k4 T C 1: 40,014,188 (GRCm38) I916T probably damaging Het
Nrap T A 19: 56,345,533 (GRCm38) K964M probably damaging Het
Osbpl5 T C 7: 143,699,334 (GRCm38) probably null Het
Perm1 A G 4: 156,217,779 (GRCm38) Q260R probably benign Het
Ralgapb T A 2: 158,437,394 (GRCm38) N133K possibly damaging Het
Slfn9 T C 11: 82,981,196 (GRCm38) S905G probably benign Het
Ssh2 C T 11: 77,453,544 (GRCm38) T785I probably damaging Het
Stk16 C A 1: 75,213,004 (GRCm38) Q69K probably damaging Het
Stk36 T C 1: 74,622,287 (GRCm38) L491P probably benign Het
Stxbp2 A T 8: 3,641,971 (GRCm38) I538F probably benign Het
Tcp11 T C 17: 28,070,516 (GRCm38) N194D probably damaging Het
Trio C A 15: 27,830,239 (GRCm38) probably benign Het
Ugt2b1 A G 5: 86,921,991 (GRCm38) V297A possibly damaging Het
Usp53 A G 3: 122,933,843 (GRCm38) M1030T probably damaging Het
Vmn1r234 T A 17: 21,229,703 (GRCm38) I293N probably damaging Het
Vmn2r57 T A 7: 41,428,074 (GRCm38) T223S probably benign Het
Wdr20 G T 12: 110,794,308 (GRCm38) E543* probably null Het
Zbtb25 T A 12: 76,349,417 (GRCm38) N344Y probably damaging Het
Zcchc2 T C 1: 106,030,168 (GRCm38) F790L probably damaging Het
Other mutations in Ugt2b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Ugt2b5 APN 5 87,125,219 (GRCm38) missense probably benign 0.02
IGL00742:Ugt2b5 APN 5 87,127,814 (GRCm38) missense probably damaging 1.00
IGL01527:Ugt2b5 APN 5 87,136,209 (GRCm38) missense possibly damaging 0.71
IGL01530:Ugt2b5 APN 5 87,137,245 (GRCm38) missense probably benign 0.08
IGL01637:Ugt2b5 APN 5 87,139,900 (GRCm38) missense probably benign 0.04
IGL02371:Ugt2b5 APN 5 87,127,676 (GRCm38) critical splice donor site probably null
IGL03114:Ugt2b5 APN 5 87,128,350 (GRCm38) missense probably damaging 1.00
R0372:Ugt2b5 UTSW 5 87,140,258 (GRCm38) missense probably benign 0.05
R0568:Ugt2b5 UTSW 5 87,137,365 (GRCm38) critical splice acceptor site probably benign
R0650:Ugt2b5 UTSW 5 87,139,768 (GRCm38) missense probably benign 0.00
R1660:Ugt2b5 UTSW 5 87,139,618 (GRCm38) missense probably benign 0.00
R1907:Ugt2b5 UTSW 5 87,139,630 (GRCm38) missense probably benign 0.19
R1955:Ugt2b5 UTSW 5 87,127,772 (GRCm38) missense probably benign 0.18
R2389:Ugt2b5 UTSW 5 87,127,682 (GRCm38) missense probably damaging 0.98
R2435:Ugt2b5 UTSW 5 87,139,606 (GRCm38) missense probably damaging 0.99
R2919:Ugt2b5 UTSW 5 87,125,407 (GRCm38) missense possibly damaging 0.83
R2920:Ugt2b5 UTSW 5 87,125,407 (GRCm38) missense possibly damaging 0.83
R4342:Ugt2b5 UTSW 5 87,139,723 (GRCm38) missense probably damaging 1.00
R4343:Ugt2b5 UTSW 5 87,139,723 (GRCm38) missense probably damaging 1.00
R4344:Ugt2b5 UTSW 5 87,139,723 (GRCm38) missense probably damaging 1.00
R4355:Ugt2b5 UTSW 5 87,139,763 (GRCm38) nonsense probably null
R4380:Ugt2b5 UTSW 5 87,127,894 (GRCm38) missense probably damaging 1.00
R4789:Ugt2b5 UTSW 5 87,139,691 (GRCm38) missense probably benign 0.14
R4993:Ugt2b5 UTSW 5 87,139,673 (GRCm38) missense probably benign 0.00
R5731:Ugt2b5 UTSW 5 87,140,252 (GRCm38) nonsense probably null
R6035:Ugt2b5 UTSW 5 87,139,682 (GRCm38) missense probably benign 0.09
R6035:Ugt2b5 UTSW 5 87,139,682 (GRCm38) missense probably benign 0.09
R6491:Ugt2b5 UTSW 5 87,125,469 (GRCm38) nonsense probably null
R7015:Ugt2b5 UTSW 5 87,139,796 (GRCm38) missense probably damaging 1.00
R7203:Ugt2b5 UTSW 5 87,128,399 (GRCm38) missense possibly damaging 0.72
R7212:Ugt2b5 UTSW 5 87,125,272 (GRCm38) missense probably benign 0.06
R7750:Ugt2b5 UTSW 5 87,140,249 (GRCm38) missense probably benign 0.11
R8384:Ugt2b5 UTSW 5 87,140,065 (GRCm38) missense probably benign
R8465:Ugt2b5 UTSW 5 87,139,659 (GRCm38) missense possibly damaging 0.79
R9336:Ugt2b5 UTSW 5 87,137,271 (GRCm38) missense probably benign 0.00
R9678:Ugt2b5 UTSW 5 87,125,327 (GRCm38) missense probably damaging 1.00
R9682:Ugt2b5 UTSW 5 87,139,663 (GRCm38) missense probably damaging 0.97
R9727:Ugt2b5 UTSW 5 87,140,306 (GRCm38) start codon destroyed probably damaging 0.97
X0004:Ugt2b5 UTSW 5 87,128,371 (GRCm38) nonsense probably null
X0021:Ugt2b5 UTSW 5 87,136,211 (GRCm38) missense possibly damaging 0.95
Posted On 2016-08-02