Mutagenetix > Incidental Mutation

Incidental Mutation 'R6731:B3gnt2'

530071

Institutional Source

Beutler Lab

Gene Symbol

B3gnt2

Ensembl Gene

ENSMUSG00000051650

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2

Synonyms

B3gnt1, B3Galt6

MMRRC Submission

044849-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R6731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22784739-22810336 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 22786888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 100 (S100*)

Ref Sequence

ENSEMBL: ENSMUSP00000133306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055549] [ENSMUST00000062844] [ENSMUST00000160826] [ENSMUST00000173660]

AlphaFold

Q9Z222

Predicted Effect

probably null
Transcript: ENSMUST00000055549
AA Change: S100*

SMART Domains

Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: S100*

Domain	Start	End	E-Value	Type
Pfam:Galactosyl_T	156	351	2.9e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000062844
AA Change: S100*

SMART Domains

Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: S100*

Domain	Start	End	E-Value	Type
Pfam:Galactosyl_T	156	351	2.9e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160826

SMART Domains

Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650

Domain	Start	End	E-Value	Type
Pfam:HCaRG	1	99	1.3e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173660
AA Change: S100*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189990

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(3) Gene trapped(2)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	G	A	8: 124,619,956 (GRCm39)	T128I	probably damaging	Het
Ahnak	T	A	19: 8,988,926 (GRCm39)	D3403E	possibly damaging	Het
Aldoc	T	A	11: 78,216,918 (GRCm39)	D319E	probably benign	Het
Ank3	T	A	10: 69,849,858 (GRCm39)	D1108E	possibly damaging	Het
Ankrd7	G	A	6: 18,866,653 (GRCm39)	G58S	probably damaging	Het
Ass1	A	T	2: 31,404,796 (GRCm39)	Y359F	probably damaging	Het
Cd46	T	C	1: 194,765,775 (GRCm39)		probably null	Het
Chst5	G	T	8: 112,616,676 (GRCm39)	R315S	probably benign	Het
Cps1	T	C	1: 67,200,030 (GRCm39)	S393P	probably damaging	Het
Dis3l	T	C	9: 64,217,720 (GRCm39)		probably null	Het
Fgg	T	C	3: 82,920,208 (GRCm39)	F329S	probably damaging	Het
Hsp90b1	T	C	10: 86,537,769 (GRCm39)	T179A	probably benign	Het
Kat2a	A	T	11: 100,599,099 (GRCm39)	M559K	probably damaging	Het
Klhl41	T	C	2: 69,505,044 (GRCm39)	I449T	probably damaging	Het
Lama5	A	T	2: 179,830,367 (GRCm39)	I1880N	probably benign	Het
Lcp1	A	G	14: 75,443,629 (GRCm39)	D215G	probably damaging	Het
Lrch3	A	G	16: 32,770,790 (GRCm39)	T131A	probably damaging	Het
Mroh6	T	C	15: 75,760,341 (GRCm39)	T78A	probably benign	Het
Naa15	T	G	3: 51,363,294 (GRCm39)	V326G	probably damaging	Het
Nalcn	T	A	14: 123,837,346 (GRCm39)	Q6L	probably benign	Het
Nipbl	T	A	15: 8,352,074 (GRCm39)	I1863L	probably damaging	Het
Obi1	C	T	14: 104,716,910 (GRCm39)	V488I	probably benign	Het
Os9	C	T	10: 126,934,412 (GRCm39)	G408D	probably benign	Het
Pcbp2	T	C	15: 102,397,225 (GRCm39)	S237P	probably damaging	Het
Pcdhb10	G	A	18: 37,546,529 (GRCm39)	R535H	probably benign	Het
Pex5l	A	T	3: 33,012,947 (GRCm39)	I320K	probably damaging	Het
Pgm2	T	C	5: 64,258,318 (GRCm39)	F101S	probably benign	Het
Phf8-ps	A	G	17: 33,285,200 (GRCm39)	V534A	probably benign	Het
Poc1b	T	A	10: 98,988,733 (GRCm39)	D207E	probably null	Het
Pou6f1	T	C	15: 100,477,764 (GRCm39)	I460V	possibly damaging	Het
Rnf17	A	T	14: 56,761,807 (GRCm39)	Q1623H	possibly damaging	Het
Rpap1	T	C	2: 119,608,777 (GRCm39)	N195S	probably benign	Het
Sacs	C	A	14: 61,418,149 (GRCm39)		probably null	Het
Scube2	G	A	7: 109,409,944 (GRCm39)	T643M	probably damaging	Het
Sele	C	T	1: 163,881,242 (GRCm39)	L481F	probably damaging	Het
Stk32a	A	G	18: 43,438,143 (GRCm39)	Y214C	probably damaging	Het
Tex44	T	A	1: 86,354,207 (GRCm39)	S39T	probably benign	Het
Tmem135	A	T	7: 88,893,172 (GRCm39)	M140K	possibly damaging	Het
Tox2	A	G	2: 163,162,297 (GRCm39)	Y354C	probably damaging	Het
Trim21	A	T	7: 102,208,419 (GRCm39)	F433L	probably damaging	Het
Trim24	T	C	6: 37,920,420 (GRCm39)	F406L	probably damaging	Het
Ubr1	G	C	2: 120,786,121 (GRCm39)	H166Q	probably null	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp141	T	C	7: 42,138,924 (GRCm39)	D36G	probably damaging	Het
Zfp729a	C	T	13: 67,768,265 (GRCm39)	V655I	probably benign	Het
Zfp974	A	T	7: 27,611,074 (GRCm39)	V217E	possibly damaging	Het

Other mutations in B3gnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:B3gnt2	APN	11	22,786,151 (GRCm39)	missense	probably benign	0.34
IGL01061:B3gnt2	APN	11	22,786,042 (GRCm39)	missense	probably damaging	1.00
IGL01123:B3gnt2	APN	11	22,786,490 (GRCm39)	missense	probably benign	0.01
IGL01455:B3gnt2	APN	11	22,787,042 (GRCm39)	missense	probably damaging	1.00
R0094:B3gnt2	UTSW	11	22,786,655 (GRCm39)	missense	probably damaging	0.99
R0309:B3gnt2	UTSW	11	22,786,860 (GRCm39)	missense	probably damaging	0.98
R0747:B3gnt2	UTSW	11	22,786,316 (GRCm39)	missense	possibly damaging	0.95
R1163:B3gnt2	UTSW	11	22,786,558 (GRCm39)	missense	probably benign	0.02
R2016:B3gnt2	UTSW	11	22,786,621 (GRCm39)	missense	probably damaging	1.00
R2017:B3gnt2	UTSW	11	22,786,621 (GRCm39)	missense	probably damaging	1.00
R2066:B3gnt2	UTSW	11	22,786,735 (GRCm39)	missense	probably damaging	1.00
R2090:B3gnt2	UTSW	11	22,786,291 (GRCm39)	missense	probably benign	0.00
R3768:B3gnt2	UTSW	11	22,786,765 (GRCm39)	missense	probably damaging	0.98
R4604:B3gnt2	UTSW	11	22,786,426 (GRCm39)	frame shift	probably null
R4680:B3gnt2	UTSW	11	22,787,105 (GRCm39)	missense	probably damaging	1.00
R5623:B3gnt2	UTSW	11	22,787,018 (GRCm39)	missense	probably damaging	0.97
R6589:B3gnt2	UTSW	11	22,787,117 (GRCm39)	missense	probably damaging	1.00
R7391:B3gnt2	UTSW	11	22,786,482 (GRCm39)	nonsense	probably null
R7970:B3gnt2	UTSW	11	22,786,255 (GRCm39)	missense	probably damaging	1.00
R8183:B3gnt2	UTSW	11	22,786,373 (GRCm39)	missense	probably benign	0.19
R8801:B3gnt2	UTSW	11	22,787,002 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTTGCCCAACAGGAAGACC -3'
(R):5'- TAATCCCGAAAGAGAAGTTCTGG -3'

Sequencing Primer
(F):5'- AGGAAGACCCTCACTACTGTCTGG -3'
(R):5'- GAGAAGTTCTGGAAGCCACCC -3'

Posted On

2018-08-01