Mutagenetix > Incidental Mutations

Incidental Mutation 'R5731:Ugt2b5'

452752

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

043192-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87124960-87140318 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87140252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 19 (R19*)

Ref Sequence

ENSEMBL: ENSMUSP00000068282 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000067790
AA Change: R19*

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: R19*

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,429,325	I58V	unknown	Het
Abca4	G	T	3: 122,132,593	G18V	probably damaging	Het
Arl9	T	C	5: 77,006,527	V34A	possibly damaging	Het
Bpifb9a	A	T	2: 154,262,243	N202I	possibly damaging	Het
C1qtnf6	A	T	15: 78,527,314	M54K	probably benign	Het
Ccdc62	T	C	5: 123,951,289		probably null	Het
Cd177	A	G	7: 24,744,421	C751R	probably damaging	Het
Clcn3	T	C	8: 60,922,889	I657V	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Dag1	T	C	9: 108,218,111	T61A	probably benign	Het
Fam184b	C	T	5: 45,553,129	G553E	probably benign	Het
Fkbp15	G	C	4: 62,306,929	A831G	probably benign	Het
Flt1	T	C	5: 147,678,152	H328R	probably benign	Het
Fmnl2	T	A	2: 53,118,137		probably null	Het
Gm5431	A	G	11: 48,894,448	Y89H	probably damaging	Het
Gprin2	C	A	14: 34,195,440	L124F	probably damaging	Het
Hacd2	T	A	16: 35,102,004	Y188N	probably damaging	Het
Itgad	A	G	7: 128,198,554	T950A	probably benign	Het
Kit	T	A	5: 75,654,415	I933N	possibly damaging	Het
Klhl11	A	T	11: 100,463,763	Y411N	probably damaging	Het
N4bp2	T	C	5: 65,809,157	S1313P	probably damaging	Het
Neurog1	T	C	13: 56,251,541	K131R	probably damaging	Het
Olfr1155	T	A	2: 87,943,427	H67L	possibly damaging	Het
Olfr745	T	C	14: 50,642,791	L170P	probably damaging	Het
Otogl	T	C	10: 107,881,464	D382G	probably damaging	Het
Pcdh1	A	C	18: 38,198,598	F590V	probably damaging	Het
Pcdha5	G	A	18: 36,960,767	V110M	probably damaging	Het
Pdlim3	A	G	8: 45,915,247	N261D	probably benign	Het
Pou4f1	T	C	14: 104,465,911	T362A	unknown	Het
Prlr	A	G	15: 10,314,135	T9A	probably benign	Het
Psmb7	T	C	2: 38,588,277	Y245C	probably damaging	Het
Ryr3	T	A	2: 112,641,572	D4515V	probably damaging	Het
Svop	T	C	5: 114,060,063	K149E	probably damaging	Het
Tlr3	A	G	8: 45,398,120	V56A	probably benign	Het
Tm4sf20	T	G	1: 82,760,292	I93L	probably benign	Het
Vmn2r28	G	T	7: 5,488,669	T193K	probably benign	Het
Vps13c	A	G	9: 67,895,379	D654G	probably damaging	Het
Zfyve16	T	A	13: 92,508,193	Q1167L	probably benign	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
R1660:Ugt2b5	UTSW	5	87139618	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
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
X0004:Ugt2b5	UTSW	5	87128371	nonsense	probably null
X0021:Ugt2b5	UTSW	5	87136211	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGTTTCAAACTTAAGGCCAGGTG -3'
(R):5'- AAGAGACATGGATCACTCTCATG -3'

Sequencing Primer
(F):5'- ACAGTGACTTCATGGCCT -3'
(R):5'- CATGGATCACTCTCATGTAAAAAGGG -3'

Posted On

2017-01-03