Mutagenetix > Incidental Mutation

Incidental Mutation 'R2919:Ugt2b5'

255419

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

040504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87272819-87288177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87273266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 467 (F467L)

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: F467L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: F467L

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

possibly damaging
Transcript: ENSMUST00000113327
AA Change: F478L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
AA Change: F478L

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

Meta Mutation Damage Score

0.7866

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,122,001 (GRCm39)	R27H	probably benign	Het
2310002L09Rik	A	T	4: 73,868,845 (GRCm39)	L31Q	probably damaging	Het
Agbl1	G	A	7: 76,064,406 (GRCm39)	D53N	probably damaging	Het
Aloxe3	C	T	11: 69,033,749 (GRCm39)	T621I	probably damaging	Het
Als2cl	A	T	9: 110,726,567 (GRCm39)		probably null	Het
Atg9b	T	A	5: 24,596,542 (GRCm39)	T125S	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,343 (GRCm39)	D1472G	probably damaging	Het
Cd1d2	C	G	3: 86,894,987 (GRCm39)	P158A	probably damaging	Het
Cdc45	A	G	16: 18,627,543 (GRCm39)	I94T	probably benign	Het
Chd6	T	G	2: 160,809,800 (GRCm39)	D1487A	possibly damaging	Het
Edem2	T	C	2: 155,550,947 (GRCm39)	Y340C	probably damaging	Het
Fbxl12	C	T	9: 20,553,509 (GRCm39)	R26H	probably damaging	Het
Fgfr3	A	G	5: 33,891,284 (GRCm39)	N516S	probably damaging	Het
Gm5884	A	G	6: 128,622,021 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	G	17: 78,800,275 (GRCm39)	D422G	probably damaging	Het
Inpp4b	C	A	8: 82,711,958 (GRCm39)	A425E	possibly damaging	Het
Kif1a	A	G	1: 92,974,464 (GRCm39)	Y964H	probably damaging	Het
Lrp1b	A	C	2: 41,660,911 (GRCm39)	C66G	probably damaging	Het
Lrp4	A	G	2: 91,321,075 (GRCm39)	I1034V	probably benign	Het
Meak7	G	A	8: 120,495,056 (GRCm39)	A234V	probably benign	Het
Mmrn2	T	C	14: 34,124,879 (GRCm39)	V820A	possibly damaging	Het
Mphosph9	G	A	5: 124,399,069 (GRCm39)	T982I	probably benign	Het
Mroh9	A	C	1: 162,884,341 (GRCm39)	M399R	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp2	G	A	5: 65,964,441 (GRCm39)	G830D	probably benign	Het
Nagpa	G	A	16: 5,021,651 (GRCm39)		probably benign	Het
Or52b1	C	T	7: 104,979,067 (GRCm39)	V111M	probably damaging	Het
Or5g23	G	A	2: 85,438,754 (GRCm39)	P167S	probably benign	Het
Oxgr1	T	A	14: 120,260,221 (GRCm39)		probably benign	Het
Parp3	T	A	9: 106,350,924 (GRCm39)	R323W	possibly damaging	Het
Pfkfb3	C	T	2: 11,489,138 (GRCm39)	V286I	probably benign	Het
Pfkp	C	T	13: 6,643,279 (GRCm39)	G513D	probably damaging	Het
Pla2g4d	T	C	2: 120,112,108 (GRCm39)		probably benign	Het
Rtl1	T	C	12: 109,557,582 (GRCm39)	E1419G	unknown	Het
Sdf2	G	C	11: 78,145,680 (GRCm39)	V126L	probably damaging	Het
Sgk2	T	G	2: 162,841,115 (GRCm39)	L175R	probably damaging	Het
Sgk2	C	A	2: 162,841,125 (GRCm39)	F178L	probably damaging	Het
Sim1	T	C	10: 50,785,911 (GRCm39)	Y255H	probably benign	Het
Slc13a5	T	C	11: 72,138,617 (GRCm39)	E442G	possibly damaging	Het
Slc38a3	A	T	9: 107,534,886 (GRCm39)	I163N	probably damaging	Het
Slc39a4	A	G	15: 76,500,870 (GRCm39)	L31P	probably damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Slfnl1	G	T	4: 120,390,275 (GRCm39)		probably benign	Het
Stradb	G	A	1: 59,031,828 (GRCm39)	V247M	probably benign	Het
Styk1	T	A	6: 131,289,967 (GRCm39)		probably benign	Het
Sult1d1	A	G	5: 87,707,614 (GRCm39)		probably benign	Het
Syk	C	T	13: 52,765,157 (GRCm39)	P95S	probably benign	Het
Taar2	T	A	10: 23,817,454 (GRCm39)	N331K	probably benign	Het
Thsd7b	A	G	1: 130,117,587 (GRCm39)		probably benign	Het
Tmbim7	G	A	5: 3,723,188 (GRCm39)		probably null	Het
Tmem107	T	C	11: 68,962,247 (GRCm39)	L68P	probably damaging	Het
Tmem184c	A	T	8: 78,331,276 (GRCm39)	C158S	probably damaging	Het
Tmpo	A	G	10: 90,988,548 (GRCm39)	I310T	probably benign	Het
Xirp1	T	C	9: 119,847,767 (GRCm39)	E372G	possibly damaging	Het
Zbtb5	T	C	4: 44,994,790 (GRCm39)	E198G	probably damaging	Het
Zfp804a	A	G	2: 82,066,160 (GRCm39)	N44D	probably damaging	Het

Other mutations in Ugt2b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Ugt2b5	APN	5	87,273,078 (GRCm39)	missense	probably benign	0.02
IGL00742:Ugt2b5	APN	5	87,275,673 (GRCm39)	missense	probably damaging	1.00
IGL01527:Ugt2b5	APN	5	87,284,068 (GRCm39)	missense	possibly damaging	0.71
IGL01530:Ugt2b5	APN	5	87,285,104 (GRCm39)	missense	probably benign	0.08
IGL01637:Ugt2b5	APN	5	87,287,759 (GRCm39)	missense	probably benign	0.04
IGL02371:Ugt2b5	APN	5	87,275,535 (GRCm39)	critical splice donor site	probably null
IGL02993:Ugt2b5	APN	5	87,285,091 (GRCm39)	missense	probably damaging	1.00
IGL03114:Ugt2b5	APN	5	87,276,209 (GRCm39)	missense	probably damaging	1.00
R0372:Ugt2b5	UTSW	5	87,288,117 (GRCm39)	missense	probably benign	0.05
R0568:Ugt2b5	UTSW	5	87,285,224 (GRCm39)	critical splice acceptor site	probably benign
R0650:Ugt2b5	UTSW	5	87,287,627 (GRCm39)	missense	probably benign	0.00
R1660:Ugt2b5	UTSW	5	87,287,477 (GRCm39)	missense	probably benign	0.00
R1907:Ugt2b5	UTSW	5	87,287,489 (GRCm39)	missense	probably benign	0.19
R1955:Ugt2b5	UTSW	5	87,275,631 (GRCm39)	missense	probably benign	0.18
R2389:Ugt2b5	UTSW	5	87,275,541 (GRCm39)	missense	probably damaging	0.98
R2435:Ugt2b5	UTSW	5	87,287,465 (GRCm39)	missense	probably damaging	0.99
R2920:Ugt2b5	UTSW	5	87,273,266 (GRCm39)	missense	possibly damaging	0.83
R4342:Ugt2b5	UTSW	5	87,287,582 (GRCm39)	missense	probably damaging	1.00
R4343:Ugt2b5	UTSW	5	87,287,582 (GRCm39)	missense	probably damaging	1.00
R4344:Ugt2b5	UTSW	5	87,287,582 (GRCm39)	missense	probably damaging	1.00
R4355:Ugt2b5	UTSW	5	87,287,622 (GRCm39)	nonsense	probably null
R4380:Ugt2b5	UTSW	5	87,275,753 (GRCm39)	missense	probably damaging	1.00
R4789:Ugt2b5	UTSW	5	87,287,550 (GRCm39)	missense	probably benign	0.14
R4993:Ugt2b5	UTSW	5	87,287,532 (GRCm39)	missense	probably benign	0.00
R5731:Ugt2b5	UTSW	5	87,288,111 (GRCm39)	nonsense	probably null
R6035:Ugt2b5	UTSW	5	87,287,541 (GRCm39)	missense	probably benign	0.09
R6035:Ugt2b5	UTSW	5	87,287,541 (GRCm39)	missense	probably benign	0.09
R6491:Ugt2b5	UTSW	5	87,273,328 (GRCm39)	nonsense	probably null
R7015:Ugt2b5	UTSW	5	87,287,655 (GRCm39)	missense	probably damaging	1.00
R7203:Ugt2b5	UTSW	5	87,276,258 (GRCm39)	missense	possibly damaging	0.72
R7212:Ugt2b5	UTSW	5	87,273,131 (GRCm39)	missense	probably benign	0.06
R7750:Ugt2b5	UTSW	5	87,288,108 (GRCm39)	missense	probably benign	0.11
R8384:Ugt2b5	UTSW	5	87,287,924 (GRCm39)	missense	probably benign
R8465:Ugt2b5	UTSW	5	87,287,518 (GRCm39)	missense	possibly damaging	0.79
R9336:Ugt2b5	UTSW	5	87,285,130 (GRCm39)	missense	probably benign	0.00
R9678:Ugt2b5	UTSW	5	87,273,186 (GRCm39)	missense	probably damaging	1.00
R9682:Ugt2b5	UTSW	5	87,287,522 (GRCm39)	missense	probably damaging	0.97
R9727:Ugt2b5	UTSW	5	87,288,165 (GRCm39)	start codon destroyed	probably damaging	0.97
X0004:Ugt2b5	UTSW	5	87,276,230 (GRCm39)	nonsense	probably null
X0021:Ugt2b5	UTSW	5	87,284,070 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAATGAGGCTGAAAGTTTGTTCATG -3'
(R):5'- GGTCATAGGACAGCTCAATGG -3'

Sequencing Primer
(F):5'- AGTTCATTGTCAGTGAGCTCTAC -3'
(R):5'- TCATAGGACAGCTCAATGGATAAG -3'

Posted On

2014-12-29