Mutagenetix > Incidental Mutation

Incidental Mutation 'R8465:Ugt2b5'

656753

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b5

Ensembl Gene

ENSMUSG00000054630

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B5

Synonyms

Udpgt-3, m-1

MMRRC Submission

067909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R8465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87124960-87140318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87139659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 216 (I216M)

Ref Sequence

ENSEMBL: ENSMUSP00000068282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067790]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067790
AA Change: I216M

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: I216M

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,316,464 (GRCm38)	L23M	possibly damaging	Het
Acot6	A	T	12: 84,106,441 (GRCm38)		probably null	Het
Adamtsl3	A	T	7: 82,598,122 (GRCm38)	N1429Y	probably benign	Het
Adk	T	C	14: 21,103,824 (GRCm38)	S32P	possibly damaging	Het
Akap13	A	T	7: 75,727,038 (GRCm38)	M2005L	probably benign	Het
Atp10a	A	T	7: 58,828,310 (GRCm38)	D1367V	probably benign	Het
Bckdhb	A	G	9: 83,988,862 (GRCm38)	I142V	probably benign	Het
Brap	C	T	5: 121,679,295 (GRCm38)	Q322*	probably null	Het
Carmil3	A	T	14: 55,496,848 (GRCm38)	N401I	probably damaging	Het
Cdan1	A	T	2: 120,728,440 (GRCm38)	S426T	possibly damaging	Het
Cdc27	C	A	11: 104,517,491 (GRCm38)	S531I	probably benign	Het
Cela3a	A	T	4: 137,403,874 (GRCm38)	Y184*	probably null	Het
Cep63	T	C	9: 102,613,377 (GRCm38)	K178R	probably benign	Het
Cfb	G	A	17: 34,857,314 (GRCm38)	Q152*	probably null	Het
Cnpy2	G	A	10: 128,326,175 (GRCm38)	V106I	probably benign	Het
Cntn1	GCTGTCTTC	GC	15: 92,339,523 (GRCm38)		probably null	Het
Ctc1	G	A	11: 69,026,219 (GRCm38)	G67D	probably damaging	Het
Cwc27	G	T	13: 104,804,264 (GRCm38)	P196T	probably benign	Het
Cwc27	C	A	13: 104,804,268 (GRCm38)	L194F	possibly damaging	Het
Cyp2d12	T	G	15: 82,555,177 (GRCm38)	S11A	possibly damaging	Het
Ddx55	T	A	5: 124,559,121 (GRCm38)		probably null	Het
Dedd2	G	T	7: 25,218,906 (GRCm38)	R75S	probably damaging	Het
Fat2	G	A	11: 55,256,704 (GRCm38)	S3904F	possibly damaging	Het
Fibp	G	A	19: 5,463,187 (GRCm38)	V177I	probably damaging	Het
Fsip2	A	T	2: 82,979,940 (GRCm38)	E2201V	probably benign	Het
Gbp11	C	T	5: 105,325,062 (GRCm38)	D499N	probably benign	Het
Gfm1	A	G	3: 67,431,699 (GRCm38)	E45G	probably damaging	Het
Gm884	T	A	11: 103,616,121 (GRCm38)		probably benign	Het
H2-D1	A	G	17: 35,263,511 (GRCm38)	Y69C	probably damaging	Het
Hcar1	A	G	5: 123,879,046 (GRCm38)	F194S	probably damaging	Het
Heatr4	A	T	12: 83,977,933 (GRCm38)		probably null	Het
Kcnd2	G	A	6: 21,216,696 (GRCm38)	C133Y	probably damaging	Het
Kcnq1	A	T	7: 143,425,974 (GRCm38)	Q619L	probably benign	Het
Kctd12	T	A	14: 102,981,465 (GRCm38)	R326W	probably damaging	Het
Kel	A	G	6: 41,689,538 (GRCm38)		probably null	Het
Lipk	A	T	19: 34,046,797 (GRCm38)	I332F	probably benign	Het
Masp2	A	G	4: 148,612,059 (GRCm38)	D371G	possibly damaging	Het
Met	A	G	6: 17,571,810 (GRCm38)	E1376G	probably benign	Het
Mup5	A	T	4: 61,833,778 (GRCm38)	I78K	probably benign	Het
Mynn	A	T	3: 30,616,641 (GRCm38)	D526V	probably damaging	Het
Naip6	G	T	13: 100,296,915 (GRCm38)	T1138N	possibly damaging	Het
Neurod1	G	T	2: 79,454,352 (GRCm38)	P229Q	probably damaging	Het
Npepps	T	G	11: 97,248,259 (GRCm38)	R162S	probably damaging	Het
Ntrk3	T	A	7: 78,462,883 (GRCm38)	Q175L	probably damaging	Het
Obsl1	T	C	1: 75,503,388 (GRCm38)	T310A	probably damaging	Het
Olfr1062	A	T	2: 86,423,631 (GRCm38)	M15K	probably benign	Het
Olfr1079	A	G	2: 86,538,387 (GRCm38)	I176T	probably damaging	Het
Olfr1288	A	T	2: 111,479,080 (GRCm38)	T99S	probably benign	Het
Olfr25	A	T	9: 38,330,114 (GRCm38)	I176F	possibly damaging	Het
Pigf	G	A	17: 86,997,536 (GRCm38)	T193I	possibly damaging	Het
Pkp4	T	C	2: 59,342,181 (GRCm38)	V904A	possibly damaging	Het
Plekha6	C	T	1: 133,270,040 (GRCm38)	T141M	probably damaging	Het
Rapgef6	G	A	11: 54,691,482 (GRCm38)	D1407N	probably benign	Het
Rhobtb3	T	C	13: 75,939,622 (GRCm38)	D82G	probably damaging	Het
Rims1	T	C	1: 22,428,480 (GRCm38)	N767S	possibly damaging	Het
Ripor2	T	A	13: 24,665,468 (GRCm38)		probably benign	Het
Sec14l4	T	A	11: 4,043,948 (GRCm38)	I296N	probably damaging	Het
Serpinb12	G	T	1: 106,956,612 (GRCm38)	V363F	probably damaging	Het
Serpinb9c	A	G	13: 33,150,033 (GRCm38)	I342T	probably damaging	Het
Shmt2	A	G	10: 127,520,076 (GRCm38)	V133A	probably damaging	Het
Slc30a6	A	G	17: 74,415,666 (GRCm38)	M243V	probably benign	Het
Slfn2	T	A	11: 83,069,661 (GRCm38)	N155K	probably damaging	Het
Syne2	A	T	12: 75,854,124 (GRCm38)	D19V	possibly damaging	Het
Tcl1b3	A	T	12: 105,194,477 (GRCm38)	I116L	probably benign	Het
Tcp11	A	G	17: 28,067,792 (GRCm38)	I411T	probably damaging	Het
Tctn1	C	T	5: 122,241,796 (GRCm38)	A560T	probably benign	Het
Tenm3	C	A	8: 48,229,181 (GRCm38)	Q2471H	probably damaging	Het
Tnr	A	G	1: 159,886,075 (GRCm38)	D691G	probably benign	Het
Ube3b	C	T	5: 114,390,390 (GRCm38)	P150S	probably damaging	Het
Unc5d	T	A	8: 28,666,849 (GRCm38)	R789S	probably damaging	Het
Ush2a	G	A	1: 188,415,678 (GRCm38)	G934D	probably damaging	Het
Usp6nl	A	T	2: 6,394,541 (GRCm38)	R70S	probably damaging	Het
Vmn1r181	T	C	7: 23,984,884 (GRCm38)	I258T	possibly damaging	Het
Vmn2r15	C	A	5: 109,297,436 (GRCm38)	D41Y	probably damaging	Het
Vmn2r17	T	A	5: 109,452,825 (GRCm38)	I663N	probably damaging	Het
Vnn3	C	A	10: 23,865,882 (GRCm38)	Q362K	possibly damaging	Het
Wdr72	A	G	9: 74,152,448 (GRCm38)	D380G	possibly damaging	Het
Wfdc10	G	A	2: 164,657,260 (GRCm38)	E97K	possibly damaging	Het
Xdh	A	T	17: 73,899,012 (GRCm38)	C1002*	probably null	Het
Zscan4e	A	C	7: 11,307,651 (GRCm38)	V126G	probably damaging	Het

Other mutations in Ugt2b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02993:Ugt2b5	APN	5	87,137,232 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GACTGATACTGATACCTTCTCCTG -3'
(R):5'- GCTCATAGCTGAACTGCTCCAG -3'

Sequencing Primer
(F):5'- ATACTGATACCTTCTCCTGTTTGATC -3'
(R):5'- ATAGCTGAACTGCTCCAGATTCC -3'

Posted On

2021-01-18