Mutagenetix > Incidental Mutation

Incidental Mutation 'R4834:Ugt2a1'

373053

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a1

Ensembl Gene

ENSMUSG00000106677

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A1

Synonyms

MMRRC Submission

041977-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87607349-87638730 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 87633894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]

AlphaFold

Q80X89

Predicted Effect

probably null
Transcript: ENSMUST00000079811

SMART Domains

Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000144144

SMART Domains

Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	277	2.3e-168	PFAM
Pfam:Glyco_tran_28_C	100	203	7.4e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147854
AA Change: A238S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: A238S

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000201519
AA Change: A238S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: A238S

Domain	Start	End	E-Value	Type
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: 94.0%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,343,787 (GRCm39)	D146A	possibly damaging	Het
Acsl5	C	A	19: 55,268,991 (GRCm39)	D217E	probably benign	Het
Acss3	A	G	10: 106,920,666 (GRCm39)		probably null	Het
Adam24	G	A	8: 41,132,738 (GRCm39)	G69R	probably damaging	Het
Adgrg7	A	T	16: 56,553,232 (GRCm39)	W622R	probably damaging	Het
Ajm1	T	C	2: 25,469,530 (GRCm39)	E127G	possibly damaging	Het
Ankrd26	T	C	6: 118,500,679 (GRCm39)	M931V	probably benign	Het
Ano8	C	T	8: 71,936,939 (GRCm39)	V187M	probably damaging	Het
Ap3d1	A	T	10: 80,555,560 (GRCm39)	C348S	probably damaging	Het
Apob	T	C	12: 8,064,101 (GRCm39)	V376A	possibly damaging	Het
Arhgap21	A	T	2: 20,870,130 (GRCm39)	D925E	probably damaging	Het
Bmp6	T	A	13: 38,669,817 (GRCm39)	V367E	probably damaging	Het
Bmp8b	A	T	4: 123,016,843 (GRCm39)	Q348L	probably damaging	Het
Ccr1l1	T	C	9: 123,777,742 (GRCm39)	K235R	probably damaging	Het
Cd59a	G	A	2: 103,944,431 (GRCm39)	C93Y	probably damaging	Het
Clstn3	C	T	6: 124,408,912 (GRCm39)		probably null	Het
Col4a2	C	A	8: 11,456,836 (GRCm39)	Y236*	probably null	Het
Csn1s2a	T	C	5: 87,929,637 (GRCm39)	F79L	probably benign	Het
Cyp4a10	A	C	4: 115,383,005 (GRCm39)	Y360S	probably damaging	Het
Cyp4a29	A	T	4: 115,106,867 (GRCm39)	I175F	probably benign	Het
Dck	T	A	5: 88,920,595 (GRCm39)	I105N	probably damaging	Het
Dicer1	A	G	12: 104,662,850 (GRCm39)	L1577P	probably benign	Het
Disp2	G	A	2: 118,622,985 (GRCm39)	S1239N	probably benign	Het
Dop1b	T	C	16: 93,536,892 (GRCm39)	M1T	probably null	Het
E130308A19Rik	T	A	4: 59,690,317 (GRCm39)	C50*	probably null	Het
Elf2	A	T	3: 51,184,642 (GRCm39)	D14E	probably damaging	Het
Epm2aip1	C	T	9: 111,102,262 (GRCm39)	R412C	probably benign	Het
Foxm1	T	C	6: 128,346,410 (GRCm39)	F114L	probably damaging	Het
Glcci1	C	T	6: 8,582,601 (GRCm39)	R134*	probably null	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gspt1	T	C	16: 11,040,581 (GRCm39)	K576E	probably damaging	Het
H2-M10.3	T	C	17: 36,678,286 (GRCm39)	K180E	probably benign	Het
Hecw2	A	T	1: 53,869,911 (GRCm39)	V1439E	probably damaging	Het
Hr	T	C	14: 70,797,362 (GRCm39)	S561P	probably damaging	Het
Hunk	T	C	16: 90,293,086 (GRCm39)	V456A	probably benign	Het
Il1rap	T	A	16: 26,495,685 (GRCm39)	D97E	probably damaging	Het
Inpp5d	T	G	1: 87,625,245 (GRCm39)	V474G	possibly damaging	Het
Itsn1	T	A	16: 91,703,677 (GRCm39)	L87*	probably null	Het
Izumo3	T	C	4: 92,035,208 (GRCm39)	D3G	possibly damaging	Het
Kifc2	T	A	15: 76,545,511 (GRCm39)	M1K	probably null	Het
Krt8	T	A	15: 101,907,256 (GRCm39)	I276F	probably damaging	Het
Ksr2	C	A	5: 117,806,392 (GRCm39)	Q402K	probably benign	Het
Lama2	A	G	10: 26,882,745 (GRCm39)	V2606A	probably benign	Het
Met	A	G	6: 17,491,412 (GRCm39)	H58R	probably damaging	Het
Mier3	C	T	13: 111,851,643 (GRCm39)	Q542*	probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Msl3l2	C	T	10: 55,991,655 (GRCm39)	R127C	probably damaging	Het
Naglu	T	C	11: 100,967,814 (GRCm39)	L588P	probably benign	Het
Nf1	T	C	11: 79,437,123 (GRCm39)	L2013P	probably damaging	Het
Nid1	A	G	13: 13,683,408 (GRCm39)	Y1162C	probably damaging	Het
Nlrc5	G	T	8: 95,232,113 (GRCm39)	R1313L	probably benign	Het
Nrg1	A	G	8: 32,407,747 (GRCm39)	V162A	probably benign	Het
Nup188	T	C	2: 30,229,596 (GRCm39)	L1310P	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14a259	G	A	7: 86,012,952 (GRCm39)	L198F	probably benign	Het
Or4f6	A	G	2: 111,839,276 (GRCm39)	L85P	probably damaging	Het
Or5ae1	T	G	7: 84,565,491 (GRCm39)	F168C	probably damaging	Het
Pbk	T	A	14: 66,052,733 (GRCm39)	L192*	probably null	Het
Pcdhga4	T	C	18: 37,818,490 (GRCm39)	I13T	probably benign	Het
Peg10	A	T	6: 4,754,294 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,848,176 (GRCm39)	V261D	probably damaging	Het
Ppp2r5b	T	A	19: 6,280,540 (GRCm39)	T313S	possibly damaging	Het
Ptk2	A	T	15: 73,087,945 (GRCm39)		probably null	Het
Ptpn7	T	A	1: 135,065,618 (GRCm39)		probably null	Het
Rab11fip1	A	G	8: 27,643,111 (GRCm39)	S563P	probably damaging	Het
Scn1a	A	T	2: 66,158,866 (GRCm39)	C351*	probably null	Het
Slc10a5	A	T	3: 10,399,859 (GRCm39)	V267D	probably damaging	Het
Slc37a2	T	A	9: 37,146,404 (GRCm39)	M368L	probably damaging	Het
Slc49a4	T	A	16: 35,555,945 (GRCm39)	T172S	probably benign	Het
Slc6a20b	T	A	9: 123,425,113 (GRCm39)	T585S	probably benign	Het
Srcap	T	C	7: 127,156,782 (GRCm39)		probably null	Het
Tbx18	T	C	9: 87,609,502 (GRCm39)	M178V	possibly damaging	Het
Tmprss11b	C	A	5: 86,811,418 (GRCm39)	C172F	probably damaging	Het
Traf5	T	C	1: 191,751,198 (GRCm39)	Q91R	probably benign	Het
Trappc8	A	T	18: 20,958,122 (GRCm39)	Y1248N	probably damaging	Het
Trpa1	A	G	1: 14,966,747 (GRCm39)	L539S	possibly damaging	Het
Tyrp1	T	A	4: 80,764,833 (GRCm39)	Y3*	probably null	Het
Ubr7	A	T	12: 102,727,761 (GRCm39)	K94N	probably damaging	Het
Unc50	T	A	1: 37,471,710 (GRCm39)	I120K	probably damaging	Het
Usp28	T	C	9: 48,912,836 (GRCm39)	V29A	probably damaging	Het
Usp9y	A	G	Y: 1,317,002 (GRCm39)	I1849T	probably benign	Het
Vmn2r102	T	A	17: 19,898,203 (GRCm39)	V406E	probably damaging	Het
Vmn2r4	G	A	3: 64,317,484 (GRCm39)	R85W	probably benign	Het
Xirp2	A	G	2: 67,346,750 (GRCm39)	D2997G	probably benign	Het
Zc2hc1c	A	T	12: 85,336,982 (GRCm39)	E213V	probably damaging	Het
Zfp420	C	T	7: 29,573,759 (GRCm39)		probably benign	Het
Zfp641	C	T	15: 98,191,585 (GRCm39)	E34K	probably damaging	Het

Other mutations in Ugt2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0131:Ugt2a1	UTSW	5	87,622,720 (GRCm39)	nonsense	probably null
R4654:Ugt2a1	UTSW	5	87,634,083 (GRCm39)	missense	probably damaging	1.00
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'- CGTTGGCCTATATAACAGAAGGC -3'
(R):5'- AAAGCATTGTGGAAAGGTCCC -3'

Sequencing Primer
(F):5'- TGGCCTATATAACAGAAGGCTAATG -3'
(R):5'- GCATTGTGGAAAGGTCCCATTCC -3'

Posted On

2016-03-01