Incidental Mutation 'R5045:Ugt2a2'
ID 394313
Institutional Source Beutler Lab
Gene Symbol Ugt2a2
Ensembl Gene ENSMUSG00000029268
Gene Name UDP glucuronosyltransferase 2 family, polypeptide A2
Synonyms
MMRRC Submission 042635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R5045 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 87607352-87630117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87622751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 72 (F72L)
Ref Sequence ENSEMBL: ENSMUSP00000078740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]
AlphaFold Q6PDD0
Predicted Effect probably damaging
Transcript: ENSMUST00000079811
AA Change: F72L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: F72L

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:UDPGT 22 525 3.5e-233 PFAM
Pfam:Glyco_tran_28_C 332 453 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144144
SMART Domains Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268

DomainStartEndE-ValueType
Pfam:UDPGT 1 277 2.3e-168 PFAM
Pfam:Glyco_tran_28_C 100 203 7.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147854
SMART Domains Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDPGT 21 525 1.2e-235 PFAM
Pfam:Glyco_tran_28_C 332 453 1.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201519
AA Change: F282L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: F282L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDPGT 21 240 2.3e-54 PFAM
Pfam:UDPGT 236 499 2.9e-75 PFAM
Pfam:UDPGT 498 691 2.6e-116 PFAM
Pfam:Glyco_tran_28_C 512 618 3.1e-6 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,530,327 (GRCm39) probably benign Het
2210408I21Rik A G 13: 77,415,927 (GRCm39) probably null Het
4930519P11Rik A T 2: 154,454,950 (GRCm39) C136* probably null Het
4930519P11Rik G T 2: 154,454,982 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,860 (GRCm39) H1189L probably damaging Het
Arhgap24 A G 5: 103,039,743 (GRCm39) I227V possibly damaging Het
Arhgap29 C A 3: 121,796,244 (GRCm39) N445K probably benign Het
Atp13a3 T C 16: 30,158,694 (GRCm39) H811R probably benign Het
Cd2ap T C 17: 43,118,851 (GRCm39) N529S probably benign Het
Cdh20 T A 1: 110,026,080 (GRCm39) S439T probably benign Het
Ces3a G T 8: 105,777,248 (GRCm39) probably null Het
Cftr T A 6: 18,230,080 (GRCm39) N408K probably benign Het
Chil5 T C 3: 105,931,456 (GRCm39) N136S possibly damaging Het
Col20a1 A G 2: 180,648,638 (GRCm39) D933G probably damaging Het
Crh A T 3: 19,748,153 (GRCm39) L163* probably null Het
Ctps1 A C 4: 120,410,075 (GRCm39) probably null Het
Cyb5d2 A G 11: 72,686,401 (GRCm39) V63A probably damaging Het
Cyp2d11 T A 15: 82,275,272 (GRCm39) probably null Het
Dclk3 A T 9: 111,296,856 (GRCm39) E133D probably damaging Het
Dhrs9 A G 2: 69,223,339 (GRCm39) D29G probably benign Het
Disp2 G A 2: 118,622,543 (GRCm39) E1092K probably benign Het
Enpp3 A G 10: 24,652,665 (GRCm39) I764T probably damaging Het
Epm2aip1 C A 9: 111,102,427 (GRCm39) R467S possibly damaging Het
Fam20a T C 11: 109,568,711 (GRCm39) I272V probably benign Het
Fgb T C 3: 82,950,680 (GRCm39) Y358C probably damaging Het
Gm11596 A T 11: 99,683,695 (GRCm39) S142T unknown Het
Golga4 A G 9: 118,394,724 (GRCm39) T9A probably benign Het
Hmcn2 C T 2: 31,299,093 (GRCm39) P2813L probably damaging Het
Ighv1-9 C T 12: 114,547,440 (GRCm39) G34R probably damaging Het
Kalrn A C 16: 34,134,722 (GRCm39) Y353* probably null Het
Klrk1 T C 6: 129,594,466 (GRCm39) Y42C probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mbtd1 T C 11: 93,822,641 (GRCm39) Y484H probably benign Het
Mki67 T C 7: 135,309,633 (GRCm39) R273G possibly damaging Het
Myh11 A T 16: 14,057,391 (GRCm39) L308* probably null Het
Nacc2 G A 2: 25,980,150 (GRCm39) probably null Het
Nadsyn1 A G 7: 143,360,706 (GRCm39) L354P probably damaging Het
Ntrk3 T A 7: 78,110,172 (GRCm39) Q354L probably benign Het
Or10ag58 A T 2: 87,265,490 (GRCm39) I220L probably damaging Het
Or52r1c G A 7: 102,735,664 (GRCm39) G308E probably benign Het
Phactr3 T C 2: 177,973,412 (GRCm39) I470T probably damaging Het
Pkd1l3 C T 8: 110,349,787 (GRCm39) P211S unknown Het
Potefam1 T A 2: 111,023,804 (GRCm39) Q110L unknown Het
Prickle2 T C 6: 92,353,375 (GRCm39) D753G probably damaging Het
Prr12 A G 7: 44,699,318 (GRCm39) probably benign Het
Psd3 T C 8: 68,166,477 (GRCm39) E917G probably damaging Het
Rgsl1 T A 1: 153,697,268 (GRCm39) K551* probably null Het
Stag3 T C 5: 138,302,740 (GRCm39) L1033P probably damaging Het
Tcaf3 T A 6: 42,570,618 (GRCm39) Q378L possibly damaging Het
Tdpoz8 G T 3: 92,981,524 (GRCm39) D181Y probably damaging Het
Tespa1 A T 10: 130,197,904 (GRCm39) K309* probably null Het
Trim69 A G 2: 122,004,727 (GRCm39) T275A probably benign Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Vmn2r59 A T 7: 41,695,496 (GRCm39) D305E possibly damaging Het
Vmn2r71 A G 7: 85,273,597 (GRCm39) I804V probably benign Het
Zfy2 T C Y: 2,107,159 (GRCm39) K492E possibly damaging Het
Zkscan1 A G 5: 138,099,182 (GRCm39) H375R probably damaging Het
Other mutations in Ugt2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0131:Ugt2a2 UTSW 5 87,622,720 (GRCm39) nonsense probably null
R0132:Ugt2a2 UTSW 5 87,622,720 (GRCm39) nonsense probably null
R0233:Ugt2a2 UTSW 5 87,622,860 (GRCm39) missense probably damaging 1.00
R0390:Ugt2a2 UTSW 5 87,612,007 (GRCm39) missense probably benign 0.38
R0732:Ugt2a2 UTSW 5 87,608,498 (GRCm39) missense probably damaging 1.00
R0841:Ugt2a2 UTSW 5 87,622,648 (GRCm39) missense probably benign 0.00
R1168:Ugt2a2 UTSW 5 87,613,427 (GRCm39) splice site probably null
R1433:Ugt2a2 UTSW 5 87,611,965 (GRCm39) missense probably damaging 0.98
R1552:Ugt2a2 UTSW 5 87,609,880 (GRCm39) missense possibly damaging 0.90
R1795:Ugt2a2 UTSW 5 87,622,315 (GRCm39) missense probably benign
R1986:Ugt2a2 UTSW 5 87,608,438 (GRCm39) missense possibly damaging 0.66
R2967:Ugt2a2 UTSW 5 87,622,488 (GRCm39) missense probably damaging 0.99
R3053:Ugt2a2 UTSW 5 87,622,328 (GRCm39) missense probably damaging 1.00
R4641:Ugt2a2 UTSW 5 87,610,755 (GRCm39) missense probably damaging 1.00
R5098:Ugt2a2 UTSW 5 87,612,040 (GRCm39) missense possibly damaging 0.47
R5725:Ugt2a2 UTSW 5 87,622,755 (GRCm39) missense probably damaging 0.98
R6243:Ugt2a2 UTSW 5 87,610,818 (GRCm39) missense probably benign 0.13
R6502:Ugt2a2 UTSW 5 87,608,318 (GRCm39) missense possibly damaging 0.80
R6650:Ugt2a2 UTSW 5 87,622,459 (GRCm39) missense probably damaging 1.00
R7097:Ugt2a2 UTSW 5 87,608,255 (GRCm39) missense possibly damaging 0.85
R7122:Ugt2a2 UTSW 5 87,608,255 (GRCm39) missense possibly damaging 0.85
R7134:Ugt2a2 UTSW 5 87,608,435 (GRCm39) missense probably benign 0.12
R7205:Ugt2a2 UTSW 5 87,608,468 (GRCm39) missense possibly damaging 0.65
R7476:Ugt2a2 UTSW 5 87,622,353 (GRCm39) missense probably damaging 1.00
R7498:Ugt2a2 UTSW 5 87,622,500 (GRCm39) missense probably damaging 0.98
R8222:Ugt2a2 UTSW 5 87,608,369 (GRCm39) missense probably damaging 1.00
R8694:Ugt2a2 UTSW 5 87,612,029 (GRCm39) missense probably damaging 1.00
R8902:Ugt2a2 UTSW 5 87,608,270 (GRCm39) missense possibly damaging 0.71
R9119:Ugt2a2 UTSW 5 87,610,834 (GRCm39) missense probably damaging 1.00
R9233:Ugt2a2 UTSW 5 87,613,272 (GRCm39) missense probably damaging 1.00
R9301:Ugt2a2 UTSW 5 87,608,382 (GRCm39) missense probably damaging 1.00
R9302:Ugt2a2 UTSW 5 87,609,940 (GRCm39) nonsense probably null
R9556:Ugt2a2 UTSW 5 87,609,821 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTCAGCTAGTAACACATCG -3'
(R):5'- CTGAAATTGTTCTCAGCGGG -3'

Sequencing Primer
(F):5'- GGGATTGTTTAGTACACCATCACAC -3'
(R):5'- AAATTGTTCTCAGCGGGAATGTG -3'
Posted On 2016-06-15