Mutagenetix > Incidental Mutation

Incidental Mutation 'R0620:B3galt2'

58573

Institutional Source

Beutler Lab

Gene Symbol

B3galt2

Ensembl Gene

ENSMUSG00000033849

Gene Name

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2

Synonyms

MMRRC Submission

038809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R0620 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

143516435-143525675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143521878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 5 (R5G)

Ref Sequence

ENSEMBL: ENSMUSP00000046118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018337] [ENSMUST00000038252]

AlphaFold

O54905

Predicted Effect

probably benign
Transcript: ENSMUST00000018337

SMART Domains

Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361

Domain	Start	End	E-Value	Type
Pfam:CDC73_N	1	297	3.4e-135	PFAM
Pfam:CDC73_C	356	521	2.6e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000038252
AA Change: R5G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046118
Gene: ENSMUSG00000033849
AA Change: R5G

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Galactosyl_T	165	359	3.8e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189597

Meta Mutation Damage Score

0.4803

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted mutation display hyperactivity, impaired motor coordination, decreased anxiety, increased startle reflexes, and decreased coping response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,835,094 (GRCm39)	T679A	possibly damaging	Het
Ahr	T	C	12: 35,558,193 (GRCm39)	T276A	probably benign	Het
Akap9	A	T	5: 4,114,136 (GRCm39)	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,382,689 (GRCm39)	F7I	probably benign	Het
Bod1l	T	C	5: 41,958,576 (GRCm39)	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,395 (GRCm39)	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,778,080 (GRCm39)		probably null	Het
Cemip2	T	A	19: 21,795,335 (GRCm39)	S743T	probably benign	Het
Cst7	T	A	2: 150,417,806 (GRCm39)		probably benign	Het
Defb30	A	T	14: 63,287,212 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,644 (GRCm39)	G2087S	probably benign	Het
Dio2	A	G	12: 90,704,845 (GRCm39)	Y72H	probably benign	Het
Dnah11	C	T	12: 117,951,204 (GRCm39)	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,152,456 (GRCm39)	K287E	possibly damaging	Het
Dnajc11	G	A	4: 152,058,085 (GRCm39)	V244I	possibly damaging	Het
Ect2	C	T	3: 27,193,801 (GRCm39)	A226T	probably damaging	Het
Ercc8	G	A	13: 108,310,595 (GRCm39)		probably null	Het
Fam120b	T	A	17: 15,623,189 (GRCm39)	M389K	probably benign	Het
Fam151a	A	G	4: 106,605,128 (GRCm39)	M497V	probably benign	Het
Fam186b	C	A	15: 99,178,009 (GRCm39)	G439V	probably benign	Het
Fank1	A	G	7: 133,478,494 (GRCm39)	Y185C	probably damaging	Het
Gart	T	C	16: 91,427,490 (GRCm39)		probably benign	Het
Glb1l	T	C	1: 75,176,364 (GRCm39)	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,549,263 (GRCm39)	A164T	unknown	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,731,542 (GRCm39)	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,356,934 (GRCm39)	T144M	probably damaging	Het
Haus6	A	T	4: 86,501,751 (GRCm39)	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,469,767 (GRCm39)	T4971S	probably benign	Het
Ints6	A	T	14: 62,934,208 (GRCm39)	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330 (GRCm39)	M650K	probably damaging	Het
Kif21b	T	C	1: 136,087,166 (GRCm39)	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,591,598 (GRCm39)	Q176H	possibly damaging	Het
Ky	T	C	9: 102,414,820 (GRCm39)	V244A	probably benign	Het
Mia2	T	A	12: 59,201,205 (GRCm39)	L191M	possibly damaging	Het
Miga2	T	A	2: 30,271,756 (GRCm39)		probably benign	Het
Mtss2	C	T	8: 111,464,580 (GRCm39)	P322S	probably damaging	Het
Nalcn	A	G	14: 123,536,553 (GRCm39)		probably benign	Het
Ncbp3	T	A	11: 72,940,671 (GRCm39)		probably benign	Het
Nprl3	G	A	11: 32,184,876 (GRCm39)	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,994,635 (GRCm39)	M184L	probably benign	Het
Or11g1	G	T	14: 50,651,154 (GRCm39)	C51F	probably benign	Het
Or9e1	T	G	11: 58,732,269 (GRCm39)	C110G	probably damaging	Het
Osbpl9	T	C	4: 108,940,325 (GRCm39)	E287G	probably damaging	Het
Parva	T	C	7: 112,175,618 (GRCm39)	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,554,864 (GRCm39)	Q65*	probably null	Het
Phtf1	A	G	3: 103,901,081 (GRCm39)	T377A	probably damaging	Het
Pkp4	G	A	2: 59,152,987 (GRCm39)	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,169,707 (GRCm39)	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092 (GRCm39)		probably benign	Het
Pole2	A	C	12: 69,256,653 (GRCm39)	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,994,944 (GRCm39)	F586L	probably benign	Het
Prrx1	G	A	1: 163,085,385 (GRCm39)	R182C	probably damaging	Het
Ptprs	A	G	17: 56,736,103 (GRCm39)	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 92,067,936 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,229,873 (GRCm39)	Q973L	probably damaging	Het
Riox2	T	C	16: 59,312,255 (GRCm39)	V464A	probably benign	Het
Robo2	A	G	16: 73,764,690 (GRCm39)	V646A	possibly damaging	Het
Ros1	T	A	10: 51,994,444 (GRCm39)	I1279F	probably damaging	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Snx7	T	C	3: 117,640,324 (GRCm39)	N62D	probably damaging	Het
Sp100	G	A	1: 85,587,588 (GRCm39)		probably null	Het
Stil	A	T	4: 114,864,356 (GRCm39)	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,099,864 (GRCm39)	D170V	probably benign	Het
Trappc13	G	A	13: 104,297,589 (GRCm39)	T105M	probably damaging	Het
Trhr	T	A	15: 44,092,896 (GRCm39)	S378T	probably benign	Het
Ttc7b	T	C	12: 100,466,332 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,174 (GRCm39)	Y110F	probably benign	Het
Vmn1r184	C	A	7: 25,966,602 (GRCm39)	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,411,235 (GRCm39)	C444*	probably null	Het
Zfp341	A	G	2: 154,476,193 (GRCm39)	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,265,868 (GRCm39)	V41E	probably benign	Het

Other mutations in B3galt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:B3galt2	APN	1	143,522,893 (GRCm39)	missense	probably damaging	1.00
IGL01019:B3galt2	APN	1	143,522,495 (GRCm39)	missense	probably benign	0.00
IGL01406:B3galt2	APN	1	143,522,844 (GRCm39)	missense	possibly damaging	0.91
IGL01736:B3galt2	APN	1	143,522,583 (GRCm39)	missense	probably benign	0.00
IGL02427:B3galt2	APN	1	143,522,254 (GRCm39)	missense	probably benign
IGL03289:B3galt2	APN	1	143,523,042 (GRCm39)	missense	probably damaging	1.00
R0143:B3galt2	UTSW	1	143,523,072 (GRCm39)	missense	possibly damaging	0.95
R0665:B3galt2	UTSW	1	143,522,191 (GRCm39)	missense	possibly damaging	0.64
R1765:B3galt2	UTSW	1	143,522,207 (GRCm39)	missense	probably benign	0.03
R2325:B3galt2	UTSW	1	143,522,926 (GRCm39)	missense	probably benign	0.01
R3817:B3galt2	UTSW	1	143,522,811 (GRCm39)	missense	probably damaging	1.00
R5248:B3galt2	UTSW	1	143,522,849 (GRCm39)	missense	probably benign	0.01
R5863:B3galt2	UTSW	1	143,522,104 (GRCm39)	missense	probably benign	0.36
R6339:B3galt2	UTSW	1	143,522,640 (GRCm39)	missense	possibly damaging	0.49
R6419:B3galt2	UTSW	1	143,522,839 (GRCm39)	missense	possibly damaging	0.48
R7529:B3galt2	UTSW	1	143,522,274 (GRCm39)	missense	probably benign	0.01
R7577:B3galt2	UTSW	1	143,523,042 (GRCm39)	missense	probably damaging	1.00
R8966:B3galt2	UTSW	1	143,521,883 (GRCm39)	missense	probably damaging	1.00
R9421:B3galt2	UTSW	1	143,522,364 (GRCm39)	nonsense	probably null
R9508:B3galt2	UTSW	1	143,522,280 (GRCm39)	missense	possibly damaging	0.50
R9593:B3galt2	UTSW	1	143,522,604 (GRCm39)	missense	probably damaging	1.00
R9743:B3galt2	UTSW	1	143,522,847 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTTCTGAAGGCCCTCTTTCCGAG -3'
(R):5'- TGTGACTCCCTGTGGTGATAGCTC -3'

Sequencing Primer
(F):5'- CCGAGCCTTTGTCAGAAATC -3'
(R):5'- TCCTCGGAAAGTGTATGTCACAG -3'

Posted On

2013-07-11