Mutagenetix > Incidental Mutations

Incidental Mutation 'R2016:B3gnt2'

223060

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

040025-MU

Accession Numbers

Ncbi RefSeq: NM_016888.5, NM_001169114.1; MGI: 1889505

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22759738-22860961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22836621 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000133306 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000055549
AA Change: D189G

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

SMART Domains

Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: D189G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000062844
AA Change: D189G

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

SMART Domains

Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: D189G

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 damaging
Transcript: ENSMUST00000173660
AA Change: D189G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189990

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

MGI Phenotype

Strain: 3576265; 3529146; 3604461
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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 165,079,026	D29G	unknown	Het
Abca13	A	T	11: 9,290,619	L827F	probably damaging	Het
Abca8a	A	G	11: 110,070,387	F570L	probably damaging	Het
Adck1	T	A	12: 88,461,092	I493N	probably damaging	Het
Adra2c	T	C	5: 35,280,312	C143R	probably damaging	Het
Akap13	C	T	7: 75,704,531	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,705,731	N240S	probably damaging	Het
Apob	G	A	12: 8,007,751	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,540,334	N989S	probably damaging	Het
Bcam	G	A	7: 19,760,349	T374M	probably benign	Het
Blm	T	C	7: 80,505,926	D335G	probably benign	Het
Cbfa2t2	T	C	2: 154,517,807	L264P	probably damaging	Het
Col4a2	T	C	8: 11,445,086	F1515L	probably benign	Het
Csf2ra	T	G	19: 61,226,893	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,164,412	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,702,159	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,839,088	D360E	probably benign	Het
Ddr2	T	C	1: 169,984,968	M652V	probably damaging	Het
Dnah2	T	A	11: 69,437,070	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Efemp1	G	T	11: 28,921,613	R376L	probably damaging	Het
Efl1	A	C	7: 82,753,709	D673A	probably damaging	Het
Eid1	A	G	2: 125,673,201	M4V	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Emilin3	G	A	2: 160,909,610	R170C	possibly damaging	Het
Erap1	T	C	13: 74,664,151	W362R	probably damaging	Het
Fam208b	A	T	13: 3,576,770	I1060K	probably benign	Het
Fam234a	A	G	17: 26,218,316	F91L	probably benign	Het
Fam71e2	A	T	7: 4,759,398	I244N	probably damaging	Het
Flnc	G	A	6: 29,443,797		probably null	Het
Fsip2	A	G	2: 82,982,732	K3132E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gnl3	A	G	14: 31,016,369		probably null	Het
Has1	A	T	17: 17,848,270	I274N	probably damaging	Het
Itsn1	T	C	16: 91,905,501		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Kif13a	T	C	13: 46,810,799	D475G	probably benign	Het
Klhl20	A	T	1: 161,103,038	M298K	probably damaging	Het
Kynu	G	T	2: 43,604,277	G241*	probably null	Het
Lrif1	G	T	3: 106,732,206	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,610,056	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,334,029	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,391,034		probably null	Het
Mettl25	T	A	10: 105,797,306	E425D	probably benign	Het
Midn	G	T	10: 80,150,115	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,540,264	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,996,817	V61M	probably damaging	Het
Nalcn	T	C	14: 123,594,581		probably null	Het
Nle1	G	T	11: 82,905,547	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252	C595Y	probably damaging	Het
Olfr1133	C	T	2: 87,646,052	V24M	probably benign	Het
Olfr1288	G	T	2: 111,479,187	M134I	probably benign	Het
Olfr724	A	G	14: 49,960,502	I190T	probably benign	Het
Olfr906	A	T	9: 38,488,013		probably null	Het
Olfr963	A	G	9: 39,669,555	Y166C	probably damaging	Het
Pds5a	T	A	5: 65,648,007		probably null	Het
Pitpnm1	T	C	19: 4,111,873	V955A	probably benign	Het
Plcb1	T	A	2: 135,362,420	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,606,694	V244M	probably damaging	Het
Plk1	A	G	7: 122,162,440	K257R	probably damaging	Het
Prkcg	A	T	7: 3,323,550	T460S	probably damaging	Het
Prl7d1	G	A	13: 27,710,173	H138Y	probably damaging	Het
Prss35	A	G	9: 86,755,512	S112G	probably benign	Het
Ptprj	C	T	2: 90,464,614	V417M	probably damaging	Het
Pwwp2b	A	T	7: 139,256,151	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,413,165	V498A	probably benign	Het
Sall1	A	G	8: 89,028,409	V1314A	probably benign	Het
Sema6c	A	G	3: 95,171,234	I549V	probably benign	Het
Slc17a1	A	G	13: 23,878,539	S230G	probably benign	Het
Slc5a4a	T	G	10: 76,153,580	F106V	probably benign	Het
Spata5	T	C	3: 37,578,762	V839A	possibly damaging	Het
Stat6	T	C	10: 127,650,796	L147P	probably damaging	Het
Taar7d	T	A	10: 24,027,744	S175T	probably benign	Het
Tmem132b	A	G	5: 125,623,016	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,062	D231G	probably benign	Het
Trim66	A	G	7: 109,472,232		probably null	Het
Ttc30a1	A	G	2: 75,981,457	L94P	probably benign	Het
Ttll9	A	T	2: 153,002,294	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,407,285	D548E	probably damaging	Het
Zcchc2	T	A	1: 106,004,121		probably null	Het
Zfp282	T	A	6: 47,897,787		probably null	Het
Zfp352	A	G	4: 90,225,171	E516G	probably benign	Het

Other mutations in B3gnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:B3gnt2	APN	11	22836151	missense	probably benign	0.34
IGL01061:B3gnt2	APN	11	22836042	missense	probably damaging	1.00
IGL01123:B3gnt2	APN	11	22836490	missense	probably benign	0.01
IGL01455:B3gnt2	APN	11	22837042	missense	probably damaging	1.00
R0094:B3gnt2	UTSW	11	22836655	missense	probably damaging	0.99
R0309:B3gnt2	UTSW	11	22836860	missense	probably damaging	0.98
R0747:B3gnt2	UTSW	11	22836316	missense	possibly damaging	0.95
R1163:B3gnt2	UTSW	11	22836558	missense	probably benign	0.02
R2017:B3gnt2	UTSW	11	22836621	missense	probably damaging	1.00
R2066:B3gnt2	UTSW	11	22836735	missense	probably damaging	1.00
R2090:B3gnt2	UTSW	11	22836291	missense	probably benign	0.00
R3768:B3gnt2	UTSW	11	22836765	missense	probably damaging	0.98
R4604:B3gnt2	UTSW	11	22836426	frame shift	probably null
R4680:B3gnt2	UTSW	11	22837105	missense	probably damaging	1.00
R5623:B3gnt2	UTSW	11	22837018	missense	probably damaging	0.97
R6589:B3gnt2	UTSW	11	22837117	missense	probably damaging	1.00
R6731:B3gnt2	UTSW	11	22836888	nonsense	probably null
R7391:B3gnt2	UTSW	11	22836482	nonsense	probably null
R7970:B3gnt2	UTSW	11	22836255	missense	probably damaging	1.00
R8183:B3gnt2	UTSW	11	22836373	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CGTCATCATCGCCCTTGAAG -3'
(R):5'- TGCCGGACAGATTTAAAGACTTTC -3'

Sequencing Primer
(F):5'- CTTGAAGACAAACTCTGCGTCTGG -3'
(R):5'- TGAGATGCCGGAATTACTCGC -3'

Posted On

2014-08-25