Incidental Mutation 'R0131:Ugt2a1'
ID 68283
Institutional Source Beutler Lab
Gene Symbol Ugt2a1
Ensembl Gene ENSMUSG00000106677
Gene Name UDP glucuronosyltransferase 2 family, polypeptide A1
Synonyms
MMRRC Submission 038416-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0131 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 87607349-87638730 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 87622720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 293 (K293*)
Ref Sequence ENSEMBL: ENSMUSP00000143986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]
AlphaFold Q80X89
Predicted Effect probably null
Transcript: ENSMUST00000079811
AA Change: K83*
SMART Domains Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: K83*

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 null
Transcript: ENSMUST00000201519
AA Change: K293*
SMART Domains Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: K293*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,258,197 (GRCm39) I773T probably benign Het
Adamtsl1 T A 4: 86,260,960 (GRCm39) I1057N possibly damaging Het
Anxa5 G A 3: 36,504,821 (GRCm39) A247V probably damaging Het
Ascc3 T G 10: 50,611,425 (GRCm39) W1589G probably damaging Het
Atp2b2 G A 6: 113,770,743 (GRCm39) P389S probably damaging Het
Bpifa6 T A 2: 153,824,851 (GRCm39) S9T probably benign Het
Cfhr4 T A 1: 139,682,009 (GRCm39) T196S probably damaging Het
Chd8 A G 14: 52,442,783 (GRCm39) V589A probably benign Het
Chrnb2 T C 3: 89,671,713 (GRCm39) M1V probably null Het
Col16a1 T A 4: 129,960,889 (GRCm39) V449E unknown Het
Cttnbp2nl T G 3: 104,913,173 (GRCm39) K237T probably damaging Het
Dazap1 T G 10: 80,114,060 (GRCm39) probably null Het
Fam187b T A 7: 30,688,545 (GRCm39) V22E probably damaging Het
Fat2 A T 11: 55,164,037 (GRCm39) S3073T probably benign Het
Fcgbpl1 A G 7: 27,837,040 (GRCm39) R320G probably damaging Het
Gm16069 T C 3: 89,088,232 (GRCm39) probably benign Het
H2-T24 T A 17: 36,325,878 (GRCm39) I238F probably damaging Het
Hectd4 A G 5: 121,471,087 (GRCm39) E2658G probably benign Het
Herc1 A C 9: 66,388,192 (GRCm39) I3826L probably benign Het
Hinfp A G 9: 44,211,060 (GRCm39) C67R probably damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Hspg2 T C 4: 137,279,198 (GRCm39) Y3094H probably damaging Het
Htr1f A G 16: 64,747,091 (GRCm39) V67A probably damaging Het
Iqcc T G 4: 129,510,392 (GRCm39) E374D probably damaging Het
Kcnj9 T C 1: 172,153,765 (GRCm39) T120A probably damaging Het
Kif3a A G 11: 53,477,743 (GRCm39) K404R possibly damaging Het
Kitl C T 10: 99,923,226 (GRCm39) P208S probably benign Het
Lpcat4 A G 2: 112,077,093 (GRCm39) Y479C probably damaging Het
Lrrc74b T C 16: 17,371,016 (GRCm39) N227S probably damaging Het
Mdc1 T A 17: 36,163,473 (GRCm39) V1007D probably damaging Het
Mocos T G 18: 24,812,819 (GRCm39) I571S probably benign Het
Myh8 A G 11: 67,183,014 (GRCm39) N659D probably damaging Het
Naip2 A G 13: 100,320,296 (GRCm39) V240A probably benign Het
Nap1l1 T C 10: 111,321,370 (GRCm39) S37P probably benign Het
Nin T G 12: 70,097,915 (GRCm39) K515T probably damaging Het
Npl T A 1: 153,384,864 (GRCm39) K258* probably null Het
Ntn4 T A 10: 93,480,569 (GRCm39) S98T possibly damaging Het
Or10x1 T C 1: 174,197,152 (GRCm39) V223A probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5k14 C A 16: 58,693,269 (GRCm39) M81I probably benign Het
Or8u10 T C 2: 85,915,844 (GRCm39) I92M probably damaging Het
Pkp2 T C 16: 16,058,577 (GRCm39) probably benign Het
Ppox C A 1: 171,106,849 (GRCm39) A192S possibly damaging Het
Prkdc T C 16: 15,531,517 (GRCm39) L1380S probably benign Het
Psd4 C A 2: 24,295,363 (GRCm39) A839E probably damaging Het
Ptprn2 T G 12: 116,685,711 (GRCm39) F57V probably damaging Het
Ptprt C T 2: 162,120,030 (GRCm39) V146I probably benign Het
R3hdm2 T A 10: 127,334,322 (GRCm39) M915K probably damaging Het
Rab26 C T 17: 24,749,759 (GRCm39) probably null Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Rprd2 T C 3: 95,681,673 (GRCm39) K407E probably damaging Het
Siah3 G A 14: 75,693,574 (GRCm39) V27I possibly damaging Het
Slc14a2 T A 18: 78,235,338 (GRCm39) N280Y probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc25a35 A G 11: 68,862,786 (GRCm39) Y247C probably damaging Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Slc35d1 C T 4: 103,065,378 (GRCm39) V189I probably benign Het
Srrm1 G A 4: 135,067,884 (GRCm39) R322* probably null Het
Stac3 A T 10: 127,339,519 (GRCm39) R138S probably damaging Het
Tbc1d9b T C 11: 50,026,751 (GRCm39) I73T probably benign Het
Tgtp1 A G 11: 48,878,159 (GRCm39) F182S probably benign Het
Tmcc3 T C 10: 94,381,437 (GRCm39) probably benign Het
Tmem116 A G 5: 121,631,845 (GRCm39) probably benign Het
Tmem260 T A 14: 48,720,779 (GRCm39) C306* probably null Het
Tspyl1 A G 10: 34,159,085 (GRCm39) N270S probably damaging Het
Tusc1 A T 4: 93,223,070 (GRCm39) H196Q probably benign Het
Vmn2r102 A C 17: 19,899,025 (GRCm39) T456P probably benign Het
Vmn2r90 T A 17: 17,932,511 (GRCm39) S139R probably benign Het
Zfp879 C A 11: 50,724,426 (GRCm39) G210V probably damaging Het
Zmym2 A G 14: 57,180,715 (GRCm39) N876D probably benign Het
Other mutations in Ugt2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4654:Ugt2a1 UTSW 5 87,634,083 (GRCm39) missense probably damaging 1.00
R4834:Ugt2a1 UTSW 5 87,633,894 (GRCm39) splice site probably null
R5145:Ugt2a1 UTSW 5 87,633,886 (GRCm39) critical splice donor site probably null
R5540:Ugt2a1 UTSW 5 87,633,915 (GRCm39) missense probably damaging 1.00
R7692:Ugt2a1 UTSW 5 87,634,586 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGAATCCCCAATTTCAGAGCCAC -3'
(R):5'- GGTAGTTTGGCCTACAGATGGCAG -3'

Sequencing Primer
(F):5'- CTGGGTCAGCTAGTAACACATCG -3'
(R):5'- CCTACAGATGGCAGCCATTG -3'
Posted On 2013-09-03