Mutagenetix > Incidental Mutation

Incidental Mutation 'R1660:Ugt2b5'

186653

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

039696-MU

Accession Numbers

Essential gene?

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

Stock #

R1660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87124960-87140318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87139618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 230 (D230V)

Ref Sequence

ENSEMBL: ENSMUSP00000068282 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067790
AA Change: D230V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: D230V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113327
AA Change: D241V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
AA Change: D241V

Domain	Start	End	E-Value	Type
Pfam:UDPGT	35	538	1.3e-259	PFAM
Pfam:Glyco_tran_28_C	341	460	4.3e-8	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,893,107	S3*	probably null	Het
Adgrv1	C	T	13: 81,476,631	V3740I	probably benign	Het
Aida	T	C	1: 183,297,583	F22S	probably damaging	Het
Ankrd65	A	T	4: 155,792,071	D220V	probably damaging	Het
Antxr2	A	T	5: 97,975,350	C279*	probably null	Het
Ap3b1	T	C	13: 94,408,812	V191A	probably damaging	Het
Arhgef28	T	C	13: 97,981,376	K595E	probably benign	Het
Atp12a	A	G	14: 56,370,848	T98A	probably benign	Het
Cdcp1	A	T	9: 123,185,362	S116T	probably benign	Het
Chrm1	T	C	19: 8,679,218	F429S	possibly damaging	Het
Ckap5	C	A	2: 91,562,958	Q395K	possibly damaging	Het
Cntn4	T	A	6: 106,679,297	I853K	probably benign	Het
Cyp2g1	G	A	7: 26,809,682		probably null	Het
Dhx57	C	T	17: 80,245,728	V1257I	possibly damaging	Het
Disp1	A	T	1: 183,087,742	V1038D	probably damaging	Het
Dmxl2	A	T	9: 54,451,030	S462T	possibly damaging	Het
Exoc3l	A	G	8: 105,293,060		probably null	Het
Fam210a	T	C	18: 68,276,096	T48A	probably benign	Het
Fbxw5	G	A	2: 25,503,274		probably null	Het
Fkbp9	T	C	6: 56,873,449	C437R	probably damaging	Het
Gpc5	A	G	14: 115,399,279	K458R	probably benign	Het
Grik2	C	A	10: 49,244,343	G56*	probably null	Het
Igsf10	T	C	3: 59,331,285	T492A	probably damaging	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Lrrc51	T	C	7: 101,913,438	Y145C	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mapkbp1	A	T	2: 120,018,548	I682F	possibly damaging	Het
Mttp	A	T	3: 138,103,193	V718D	probably damaging	Het
Myt1l	T	A	12: 29,895,273	D1012E	unknown	Het
Nbn	G	A	4: 15,971,771	G301D	probably benign	Het
Ncstn	T	A	1: 172,066,772	S677C	possibly damaging	Het
Nod1	C	A	6: 54,944,233		probably null	Het
Nos1ap	A	G	1: 170,514,637	V52A	possibly damaging	Het
Olfr1450	T	A	19: 12,953,691	I34N	probably damaging	Het
Olfr191	T	A	16: 59,086,343	I47F	probably benign	Het
Olfr568	T	G	7: 102,877,656	Y179D	probably damaging	Het
Olfr619	T	A	7: 103,603,675	L7*	probably null	Het
Phf13	T	C	4: 151,992,505	I77V	probably benign	Het
Pias2	A	G	18: 77,120,129	K230E	probably damaging	Het
Poli	A	G	18: 70,509,464	L469P	probably damaging	Het
Prag1	A	T	8: 36,140,023	T973S	possibly damaging	Het
Prpf40b	C	A	15: 99,305,561	H101Q	probably damaging	Het
Prss50	T	C	9: 110,862,489	V287A	possibly damaging	Het
Rbm25	C	T	12: 83,668,150		probably benign	Het
Rcor2	T	C	19: 7,268,972	V4A	probably damaging	Het
Rnf180	T	C	13: 105,270,991	T17A	probably benign	Het
Robo3	A	T	9: 37,429,144	V179E	probably damaging	Het
Sacs	T	A	14: 61,209,009	S2835T	probably damaging	Het
Serpinb3c	T	A	1: 107,271,702	H363L	probably damaging	Het
Setd1a	T	C	7: 127,796,669		probably benign	Het
Skp2	A	C	15: 9,125,114	V126G	probably benign	Het
Snph	G	A	2: 151,594,478	Q108*	probably null	Het
Snrpa1	T	A	7: 66,069,498	V144E	probably damaging	Het
Tifab	T	C	13: 56,176,435	E65G	probably damaging	Het
Tmem201	A	T	4: 149,719,575	Y468N	probably damaging	Het
Tpcn1	T	C	5: 120,549,515	N388S	possibly damaging	Het
Tssk4	A	G	14: 55,650,572	Q75R	probably null	Het
Tuba4a	T	C	1: 75,215,903	N356D	probably benign	Het
Ush2a	T	C	1: 188,916,064	V4622A	probably benign	Het
Vmn2r11	T	G	5: 109,053,858	Y260S	possibly damaging	Het
Vmn2r89	C	A	14: 51,456,236	H348N	possibly damaging	Het
Vmn2r96	A	T	17: 18,597,726	M714L	probably benign	Het
Wdr92	A	T	11: 17,227,183	E180D	probably benign	Het
Zbtb18	T	C	1: 177,447,763	S221P	probably benign	Het
Zfp418	A	G	7: 7,181,790	T251A	probably benign	Het
Zmynd15	A	G	11: 70,463,502	Y267C	probably damaging	Het

Other mutations in Ugt2b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Ugt2b5	APN	5	87125219	missense	probably benign	0.02
IGL00742:Ugt2b5	APN	5	87127814	missense	probably damaging	1.00
IGL01527:Ugt2b5	APN	5	87136209	missense	possibly damaging	0.71
IGL01530:Ugt2b5	APN	5	87137245	missense	probably benign	0.08
IGL01637:Ugt2b5	APN	5	87139900	missense	probably benign	0.04
IGL02371:Ugt2b5	APN	5	87127676	critical splice donor site	probably null
IGL02993:Ugt2b5	APN	5	87137232	missense	probably damaging	1.00
IGL03114:Ugt2b5	APN	5	87128350	missense	probably damaging	1.00
R0372:Ugt2b5	UTSW	5	87140258	missense	probably benign	0.05
R0568:Ugt2b5	UTSW	5	87137365	critical splice acceptor site	probably benign
R0650:Ugt2b5	UTSW	5	87139768	missense	probably benign	0.00
R1907:Ugt2b5	UTSW	5	87139630	missense	probably benign	0.19
R1955:Ugt2b5	UTSW	5	87127772	missense	probably benign	0.18
R2389:Ugt2b5	UTSW	5	87127682	missense	probably damaging	0.98
R2435:Ugt2b5	UTSW	5	87139606	missense	probably damaging	0.99
R2919:Ugt2b5	UTSW	5	87125407	missense	possibly damaging	0.83
R2920:Ugt2b5	UTSW	5	87125407	missense	possibly damaging	0.83
R4342:Ugt2b5	UTSW	5	87139723	missense	probably damaging	1.00
R4343:Ugt2b5	UTSW	5	87139723	missense	probably damaging	1.00
R4344:Ugt2b5	UTSW	5	87139723	missense	probably damaging	1.00
R4355:Ugt2b5	UTSW	5	87139763	nonsense	probably null
R4380:Ugt2b5	UTSW	5	87127894	missense	probably damaging	1.00
R4789:Ugt2b5	UTSW	5	87139691	missense	probably benign	0.14
R4993:Ugt2b5	UTSW	5	87139673	missense	probably benign	0.00
R5731:Ugt2b5	UTSW	5	87140252	nonsense	probably null
R6035:Ugt2b5	UTSW	5	87139682	missense	probably benign	0.09
R6035:Ugt2b5	UTSW	5	87139682	missense	probably benign	0.09
R6491:Ugt2b5	UTSW	5	87125469	nonsense	probably null
R7015:Ugt2b5	UTSW	5	87139796	missense	probably damaging	1.00
R7203:Ugt2b5	UTSW	5	87128399	missense	possibly damaging	0.72
R7212:Ugt2b5	UTSW	5	87125272	missense	probably benign	0.06
R7750:Ugt2b5	UTSW	5	87140249	missense	probably benign	0.11
R8384:Ugt2b5	UTSW	5	87140065	missense	probably benign
R8465:Ugt2b5	UTSW	5	87139659	missense	possibly damaging	0.79
R9336:Ugt2b5	UTSW	5	87137271	missense	probably benign	0.00
R9678:Ugt2b5	UTSW	5	87125327	missense	probably damaging	1.00
R9682:Ugt2b5	UTSW	5	87139663	missense	probably damaging	0.97
R9727:Ugt2b5	UTSW	5	87140306	start codon destroyed	probably damaging	0.97
X0004:Ugt2b5	UTSW	5	87128371	nonsense	probably null
X0021:Ugt2b5	UTSW	5	87136211	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCAATTTTGAGCCACTGTGCATGAG -3'
(R):5'- GCTACCAAATTGAAAAGTCCAGCGG -3'

Sequencing Primer
(F):5'- AGGACTGATACTGATACCTTCTCCTG -3'
(R):5'- CCTGTAATTCTGTCAGGATTAGGTGG -3'

Posted On

2014-05-09