Mutagenetix > Incidental Mutations

Incidental Mutation 'R4380:Ugt2b5'

325290

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

041678-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87124960-87140318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87127894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 366 (H366L)

Ref Sequence

ENSEMBL: ENSMUSP00000068282 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067790
AA Change: H366L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: H366L

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

0.9211

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	T	C	7: 44,677,156		noncoding transcript	Het
Casc3	C	A	11: 98,823,031	P363Q	possibly damaging	Het
Cep162	C	A	9: 87,200,003	R1283L	probably damaging	Het
Clk3	C	A	9: 57,751,792	W562L	probably damaging	Het
Col17a1	G	A	19: 47,657,090	T844M	possibly damaging	Het
Dntt	G	C	19: 41,053,233	G452A	probably damaging	Het
Dopey2	G	A	16: 93,716,232	V20I	possibly damaging	Het
Dst	T	C	1: 34,163,235	S215P	probably damaging	Het
Dync1li2	A	T	8: 104,428,166	I270N	probably damaging	Het
Egflam	A	T	15: 7,243,869	I575N	possibly damaging	Het
Gldc	G	T	19: 30,160,768		probably benign	Het
Gm13089	T	A	4: 143,698,286	I196F	probably benign	Het
Gm17067	C	A	7: 42,708,038	V347L	probably benign	Het
Gmds	T	A	13: 31,917,696	N304I	probably benign	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Igfn1	T	C	1: 135,967,771	T1686A	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamb3	A	T	1: 193,331,375	Q519L	probably benign	Het
Lrp10	C	T	14: 54,468,366	R338C	probably damaging	Het
Macf1	A	G	4: 123,354,492		probably benign	Het
Mcfd2	C	G	17: 87,257,959	G39R	possibly damaging	Het
Mecom	T	C	3: 29,987,070	H125R	probably damaging	Het
Nme7	A	G	1: 164,345,238	T173A	probably benign	Het
Olfr1193	A	G	2: 88,678,271	T132A	possibly damaging	Het
Olfr194	C	T	16: 59,119,664	M135I	probably benign	Het
Pde1c	T	A	6: 56,072,278	R683S	probably null	Het
Pkn2	A	T	3: 142,830,456		probably benign	Het
Plppr4	T	G	3: 117,322,397	T604P	probably benign	Het
Slc34a2	C	T	5: 53,069,286	P584S	probably damaging	Het
Slco5a1	A	T	1: 12,939,168	M361K	probably damaging	Het
Snx4	T	A	16: 33,264,296	I60N	probably damaging	Het
Sp6	T	C	11: 97,021,746	L95P	probably damaging	Het
Stat5b	A	G	11: 100,787,349	F646S	probably damaging	Het
Tbc1d1	T	C	5: 64,333,548	M785T	probably benign	Het
Tbc1d22a	T	A	15: 86,351,734	C365S	probably damaging	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,118,163		probably benign	Het
Tnfsf8	A	T	4: 63,861,027	C11*	probably null	Het
Ttn	A	T	2: 76,918,141	V4188E	probably damaging	Het
Wdr17	T	C	8: 54,648,407		probably benign	Het
Zfhx3	A	G	8: 108,956,390	Y3487C	unknown	Het
Zfp28	C	T	7: 6,393,442	T292I	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
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
X0004:Ugt2b5	UTSW	5	87128371	nonsense	probably null
X0021:Ugt2b5	UTSW	5	87136211	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAGCACATCTGACTTTGACATTG -3'
(R):5'- CTATGGATTTCATGTGTTCAACTGG -3'

Sequencing Primer
(F):5'- GTTCTGATATTCAATGCAACAGCTG -3'
(R):5'- TCATGTGTTCAACTGGAAATGAG -3'

Posted On

2015-07-06