Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Ugt2b5'

486492

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

044207-MU

Accession Numbers

Essential gene?

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

Stock #

R6035 (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 87139682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 209 (I209V)

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: I209V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: I209V

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

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

84% (62/74)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,638,394 (GRCm38)	G76W	probably damaging	Het
Abca17	A	T	17: 24,281,245 (GRCm38)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,971,860 (GRCm38)		probably null	Het
Abcc12	A	G	8: 86,517,404 (GRCm38)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,841,806 (GRCm38)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,304,513 (GRCm38)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,540,443 (GRCm38)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,832,213 (GRCm38)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,737,224 (GRCm38)	Y392*	probably null	Het
Ash1l	T	C	3: 88,985,019 (GRCm38)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 105,692,563 (GRCm38)	W749L	probably benign	Het
Ccar1	A	G	10: 62,751,785 (GRCm38)	Y867H	unknown	Het
Cdh13	A	G	8: 118,505,698 (GRCm38)	D47G	probably benign	Het
Chst9	T	A	18: 15,452,853 (GRCm38)	T218S	probably benign	Het
Clec2i	G	A	6: 128,893,624 (GRCm38)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,759,746 (GRCm38)		probably benign	Het
Cpz	A	G	5: 35,517,585 (GRCm38)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,761,199 (GRCm38)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,533,968 (GRCm38)	M307V	probably benign	Het
Defa24	A	G	8: 21,734,549 (GRCm38)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,258,314 (GRCm38)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,238,974 (GRCm38)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,377,917 (GRCm38)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,263,353 (GRCm38)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,275,526 (GRCm38)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,964,036 (GRCm38)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,410,728 (GRCm38)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,593,880 (GRCm38)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm38)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,608,450 (GRCm38)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,229,326 (GRCm38)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 88,711,534 (GRCm38)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940 (GRCm38)		probably benign	Het
Il5ra	G	A	6: 106,741,265 (GRCm38)	T76I	probably damaging	Het
Itga8	T	C	2: 12,191,714 (GRCm38)	T631A	probably benign	Het
Kcnh6	G	A	11: 106,019,152 (GRCm38)		probably null	Het
Krt26	C	T	11: 99,333,589 (GRCm38)	E368K	probably benign	Het
Lhx9	T	C	1: 138,838,543 (GRCm38)	D169G	possibly damaging	Het
Lman1l	A	G	9: 57,611,747 (GRCm38)		probably null	Het
Lmod3	A	G	6: 97,247,273 (GRCm38)	L529P	probably damaging	Het
Nup155	A	G	15: 8,144,093 (GRCm38)	T891A	probably benign	Het
Or11g24	A	G	14: 50,424,527 (GRCm38)	T3A	probably benign	Het
Or1e1	T	C	11: 73,353,756 (GRCm38)	M1T	probably null	Het
Or1j13	T	A	2: 36,479,984 (GRCm38)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,317,459 (GRCm38)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
Papln	G	C	12: 83,774,680 (GRCm38)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,446,035 (GRCm38)	V160I	probably benign	Het
Pde8b	A	G	13: 95,027,597 (GRCm38)		probably benign	Het
Ppme1	G	A	7: 100,354,795 (GRCm38)	R68*	probably null	Het
Prob1	T	C	18: 35,654,782 (GRCm38)	S140G	probably benign	Het
Ptprn2	A	T	12: 117,255,595 (GRCm38)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,787,123 (GRCm38)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 116,097,469 (GRCm38)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,744,187 (GRCm38)	D420V	probably damaging	Het
Ros1	G	T	10: 52,077,971 (GRCm38)	S1857R	probably benign	Het
Rsf1	A	G	7: 97,662,109 (GRCm38)	E682G	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Homo
Samd4	G	A	14: 47,087,872 (GRCm38)	R515H	probably damaging	Het
Selp	T	A	1: 164,141,510 (GRCm38)	W560R	probably benign	Het
Shc3	A	T	13: 51,461,432 (GRCm38)	L163Q	probably damaging	Het
Shh	G	A	5: 28,461,399 (GRCm38)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,592,075 (GRCm38)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,048,824 (GRCm38)		probably benign	Het
Smarcd2	A	G	11: 106,266,889 (GRCm38)		probably null	Het
Sytl3	A	G	17: 6,728,265 (GRCm38)	D148G	probably damaging	Het
Tnks	G	T	8: 34,918,461 (GRCm38)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,202,634 (GRCm38)		probably benign	Het
Ube3c	T	C	5: 29,601,163 (GRCm38)	F268L	probably benign	Het
Usp1	A	G	4: 98,929,845 (GRCm38)	N140S	probably damaging	Het
Vcam1	T	C	3: 116,125,957 (GRCm38)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,360,609 (GRCm38)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,806,032 (GRCm38)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 13,084,927 (GRCm38)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,334,351 (GRCm38)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,951,890 (GRCm38)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,887,349 (GRCm38)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,623,934 (GRCm38)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,779,543 (GRCm38)	N901K	probably benign	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
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
R8465:Ugt2b5	UTSW	5	87,139,659 (GRCm38)	missense	possibly damaging	0.79
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'- AGATCCTGTTGCTTCCTGTG -3'

Sequencing Primer
(F):5'- CTACTACATTTTGCATTTCATGGAC -3'
(R):5'- CTTCCTGTGGGGAGCTCATAGC -3'

Posted On

2017-08-16