Mutagenetix > Incidental Mutation

Incidental Mutation 'R6791:Ugt2b1'

532580

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b1

Ensembl Gene

ENSMUSG00000035836

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B1

Synonyms

1300012D20Rik

MMRRC Submission

044904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87064498-87074362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87067116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 436 (D436Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031183]

AlphaFold

Q8R084

Predicted Effect

probably damaging
Transcript: ENSMUST00000031183
AA Change: D436Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: D436Y

Domain	Start	End	E-Value	Type
Pfam:UDPGT	24	527	4.7e-260	PFAM
Pfam:Glyco_tran_28_C	343	454	1.7e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,504 (GRCm39)	C3526S	probably damaging	Het
Adgrf2	T	C	17: 43,021,774 (GRCm39)	N350S	probably benign	Het
Atp12a	G	A	14: 56,624,439 (GRCm39)		probably null	Het
AW551984	T	G	9: 39,511,955 (GRCm39)	S19R	probably damaging	Het
Bet1l	A	G	7: 140,434,418 (GRCm39)	I77T	possibly damaging	Het
Cfap206	T	C	4: 34,711,414 (GRCm39)	I494M	possibly damaging	Het
Cog3	A	G	14: 75,968,118 (GRCm39)	I415T	probably damaging	Het
Col15a1	C	T	4: 47,300,518 (GRCm39)	P1060S	probably damaging	Het
Ctrb1	A	G	8: 112,415,981 (GRCm39)	V71A	possibly damaging	Het
Ddhd2	T	C	8: 26,242,242 (GRCm39)	Y211C	probably benign	Het
Fbxl20	T	C	11: 98,000,336 (GRCm39)	T128A	probably benign	Het
Fdps	A	G	3: 89,002,659 (GRCm39)		probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm8369	T	A	19: 11,489,200 (GRCm39)		probably benign	Het
Grm6	T	C	11: 50,750,601 (GRCm39)	V588A	possibly damaging	Het
Heatr6	T	C	11: 83,649,167 (GRCm39)	L174S	probably benign	Het
Kif1a	G	A	1: 92,993,859 (GRCm39)	P364S	probably damaging	Het
Klk7	A	G	7: 43,462,684 (GRCm39)	D163G	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Lamb3	T	C	1: 193,017,169 (GRCm39)	S787P	possibly damaging	Het
Lrp5	C	T	19: 3,650,753 (GRCm39)	C1227Y	probably damaging	Het
Mgst1	G	A	6: 138,118,805 (GRCm39)		probably benign	Het
Mllt6	T	C	11: 97,571,428 (GRCm39)	S1022P	probably damaging	Het
Mtmr2	T	C	9: 13,716,678 (GRCm39)	I521T	probably benign	Het
Naalad2	T	C	9: 18,296,426 (GRCm39)	T75A	possibly damaging	Het
Nadsyn1	A	T	7: 143,372,845 (GRCm39)	I83N	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurl4	T	A	11: 69,799,336 (GRCm39)	L904Q	probably damaging	Het
Ngp	A	C	9: 110,249,017 (GRCm39)	I30L	probably benign	Het
Or5af1	T	C	11: 58,722,903 (GRCm39)	Y308H	probably benign	Het
Or6c5c	G	A	10: 129,299,023 (GRCm39)	M159I	probably benign	Het
Orm2	A	T	4: 63,282,196 (GRCm39)	M125L	probably benign	Het
Pax2	A	T	19: 44,777,260 (GRCm39)	D151V	possibly damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Pramel11	T	A	4: 143,622,252 (GRCm39)	I368F	probably benign	Het
Prss16	A	T	13: 22,190,237 (GRCm39)	V307E	probably damaging	Het
Prss54	T	G	8: 96,291,283 (GRCm39)		probably null	Het
Rspo1	A	G	4: 124,900,976 (GRCm39)	H108R	probably benign	Het
Sh3bp5l	C	A	11: 58,237,098 (GRCm39)	H352N	probably damaging	Het
Skor1	T	C	9: 63,047,636 (GRCm39)		probably null	Het
Smad6	A	G	9: 63,919,509 (GRCm39)	Y289H	probably benign	Het
Spart	G	A	3: 55,034,982 (GRCm39)	G456D	probably damaging	Het
Spg11	T	C	2: 121,923,924 (GRCm39)	E799G	probably damaging	Het
Tbc1d4	T	G	14: 101,845,695 (GRCm39)	K68Q	probably damaging	Het
Treml2	A	G	17: 48,616,247 (GRCm39)	M296V	probably benign	Het
Usp9y	A	T	Y: 1,325,042 (GRCm39)		probably null	Homo
Vmn2r6	T	C	3: 64,445,580 (GRCm39)	Y626C	probably damaging	Het
Xpc	G	A	6: 91,483,839 (GRCm39)	A169V	probably benign	Het
Zfp131	A	G	13: 120,228,129 (GRCm39)	V506A	probably damaging	Het
Zfp74	A	G	7: 29,633,860 (GRCm39)	I616T	probably benign	Het

Other mutations in Ugt2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Ugt2b1	APN	5	87,073,817 (GRCm39)	missense	probably benign	0.05
IGL00556:Ugt2b1	APN	5	87,074,055 (GRCm39)	missense	probably benign	0.00
IGL02591:Ugt2b1	APN	5	87,065,563 (GRCm39)	missense	probably damaging	1.00
IGL02795:Ugt2b1	APN	5	87,065,560 (GRCm39)	missense	probably damaging	1.00
IGL02993:Ugt2b1	APN	5	87,069,850 (GRCm39)	missense	possibly damaging	0.86
IGL03057:Ugt2b1	APN	5	87,074,200 (GRCm39)	missense	possibly damaging	0.59
IGL03084:Ugt2b1	APN	5	87,074,243 (GRCm39)	missense	probably benign	0.00
PIT4531001:Ugt2b1	UTSW	5	87,074,342 (GRCm39)	missense	probably benign	0.00
R0125:Ugt2b1	UTSW	5	87,073,961 (GRCm39)	missense	probably benign
R0480:Ugt2b1	UTSW	5	87,074,315 (GRCm39)	missense	probably benign	0.00
R0551:Ugt2b1	UTSW	5	87,073,943 (GRCm39)	missense	probably benign	0.01
R0601:Ugt2b1	UTSW	5	87,065,539 (GRCm39)	missense	possibly damaging	0.53
R0626:Ugt2b1	UTSW	5	87,073,720 (GRCm39)	missense	probably null	0.13
R1238:Ugt2b1	UTSW	5	87,073,988 (GRCm39)	missense	probably benign	0.00
R1623:Ugt2b1	UTSW	5	87,074,267 (GRCm39)	missense	probably benign	0.25
R1919:Ugt2b1	UTSW	5	87,073,859 (GRCm39)	missense	probably benign	0.00
R1930:Ugt2b1	UTSW	5	87,065,700 (GRCm39)	missense	probably damaging	1.00
R1931:Ugt2b1	UTSW	5	87,065,700 (GRCm39)	missense	probably damaging	1.00
R1955:Ugt2b1	UTSW	5	87,065,572 (GRCm39)	missense	probably damaging	1.00
R3973:Ugt2b1	UTSW	5	87,065,534 (GRCm39)	missense	probably benign	0.19
R3976:Ugt2b1	UTSW	5	87,065,534 (GRCm39)	missense	probably benign	0.19
R4115:Ugt2b1	UTSW	5	87,074,273 (GRCm39)	missense	probably damaging	0.99
R5018:Ugt2b1	UTSW	5	87,073,821 (GRCm39)	nonsense	probably null
R5043:Ugt2b1	UTSW	5	87,065,503 (GRCm39)	missense	possibly damaging	0.94
R5765:Ugt2b1	UTSW	5	87,067,265 (GRCm39)	missense	probably benign	0.32
R5959:Ugt2b1	UTSW	5	87,073,813 (GRCm39)	missense	probably benign	0.42
R5985:Ugt2b1	UTSW	5	87,067,527 (GRCm39)	missense	possibly damaging	0.56
R7380:Ugt2b1	UTSW	5	87,065,578 (GRCm39)	missense	not run
R7414:Ugt2b1	UTSW	5	87,073,693 (GRCm39)	missense	probably damaging	0.97
R8519:Ugt2b1	UTSW	5	87,074,326 (GRCm39)	missense	probably damaging	0.99
R9473:Ugt2b1	UTSW	5	87,065,539 (GRCm39)	missense	possibly damaging	0.53
R9540:Ugt2b1	UTSW	5	87,069,771 (GRCm39)	missense	possibly damaging	0.94
X0017:Ugt2b1	UTSW	5	87,074,188 (GRCm39)	missense	probably benign
X0027:Ugt2b1	UTSW	5	87,073,657 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAACAGTGTTCTCTGGGTATG -3'
(R):5'- GCATCTATGAGGCGATCTACC -3'

Sequencing Primer
(F):5'- GTTATTCACCATCAAGCGTGAATGC -3'
(R):5'- ATCTATGAGGCGATCTACCATGGC -3'

Posted On

2018-08-29