Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:B3galt2'

517982

Institutional Source

Beutler Lab

Gene Symbol

B3galt2

Ensembl Gene

ENSMUSG00000033849

Gene Name

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

Synonyms

MMRRC Submission

044561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143516435-143525675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143522839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 325 (E325V)

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

possibly damaging
Transcript: ENSMUST00000038252
AA Change: E325V

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046118
Gene: ENSMUSG00000033849
AA Change: E325V

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473 (GRCm39)		probably benign	Het
Abcc2	T	A	19: 43,825,947 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,215,759 (GRCm39)	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,231,556 (GRCm39)	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,144,953 (GRCm39)	E34G	probably damaging	Het
Asah1	A	T	8: 41,796,803 (GRCm39)	I293N	probably damaging	Het
Atosa	G	A	9: 74,916,619 (GRCm39)	S413N	probably benign	Het
Baz1b	T	A	5: 135,271,348 (GRCm39)	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,826,834 (GRCm39)	N204K	probably damaging	Het
Cd36	C	T	5: 18,002,150 (GRCm39)	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,483 (GRCm39)	L316S	probably damaging	Het
Cenpv	T	C	11: 62,416,008 (GRCm39)	K247R	probably benign	Het
Cldn18	T	C	9: 99,574,801 (GRCm39)	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,004,891 (GRCm39)	Y197N	probably damaging	Het
Cog3	A	T	14: 75,962,178 (GRCm39)	C554*	probably null	Het
Col4a4	A	G	1: 82,444,207 (GRCm39)		probably null	Het
Cops5	G	A	1: 10,103,532 (GRCm39)	T158I	probably damaging	Het
Dhh	A	G	15: 98,792,282 (GRCm39)	F242S	probably damaging	Het
Dot1l	T	C	10: 80,627,315 (GRCm39)	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,781,907 (GRCm39)	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,711,398 (GRCm39)	D326N	probably damaging	Het
Enpp3	A	T	10: 24,684,089 (GRCm39)	Y52N	probably damaging	Het
Gabra2	A	G	5: 71,119,426 (GRCm39)	S359P	probably benign	Het
Gbp7	G	A	3: 142,252,214 (GRCm39)	G599E	probably benign	Het
Gcat	T	G	15: 78,920,264 (GRCm39)	I198S	probably damaging	Het
Gm8439	A	G	4: 120,466,755 (GRCm39)	K82R	unknown	Het
Grin2b	A	G	6: 135,717,965 (GRCm39)	F709S	probably damaging	Het
Grm3	T	C	5: 9,620,201 (GRCm39)	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,954,075 (GRCm39)		probably benign	Het
Hmgxb3	G	T	18: 61,285,296 (GRCm39)	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Impg1	A	G	9: 80,287,300 (GRCm39)	V305A	probably benign	Het
Ints7	T	A	1: 191,334,414 (GRCm39)	S313T	possibly damaging	Het
Knl1	T	A	2: 118,899,484 (GRCm39)	I395K	probably benign	Het
Lactb2	A	T	1: 13,708,459 (GRCm39)	Y196*	probably null	Het
Lad1	T	C	1: 135,759,630 (GRCm39)	S509P	possibly damaging	Het
Ltf	T	C	9: 110,860,090 (GRCm39)	F504L	possibly damaging	Het
Med4	A	T	14: 73,751,363 (GRCm39)	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,301,073 (GRCm39)	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,068,668 (GRCm39)	T54A	probably benign	Het
Notch2	G	T	3: 98,007,705 (GRCm39)		probably null	Het
Ntng1	A	T	3: 109,690,169 (GRCm39)	N424K	possibly damaging	Het
Ntrk2	G	A	13: 59,009,113 (GRCm39)	W301*	probably null	Het
Or5b116	T	A	19: 13,423,131 (GRCm39)	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766 (GRCm39)	S113P	possibly damaging	Het
Pcdhb20	A	G	18: 37,638,608 (GRCm39)	N378S	probably damaging	Het
Polr3b	T	C	10: 84,473,975 (GRCm39)	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,240,681 (GRCm39)	R31C	probably benign	Het
Rgsl1	C	T	1: 153,698,117 (GRCm39)	V478M	probably damaging	Het
Sema6b	A	T	17: 56,439,784 (GRCm39)	L19*	probably null	Het
Slfn8	A	G	11: 82,894,881 (GRCm39)		probably null	Het
Spen	A	T	4: 141,203,621 (GRCm39)	S1669T	unknown	Het
Syne2	T	C	12: 76,143,740 (GRCm39)	F1522L	probably damaging	Het
Tarbp1	C	T	8: 127,185,783 (GRCm39)	A470T	possibly damaging	Het
Tent4a	A	C	13: 69,658,785 (GRCm39)	M350R	possibly damaging	Het
Tiam1	C	A	16: 89,694,912 (GRCm39)	E182*	probably null	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trip12	C	T	1: 84,771,591 (GRCm39)	A186T	probably damaging	Het
Ufc1	C	T	1: 171,116,529 (GRCm39)	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,567,777 (GRCm39)	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,323,085 (GRCm39)	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,460,767 (GRCm39)	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,282,795 (GRCm39)	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,196,457 (GRCm39)	V28A	probably benign	Het
Wdr19	A	G	5: 65,373,236 (GRCm39)	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,595,634 (GRCm39)	G33R	probably damaging	Het
Zfp330	T	G	8: 83,491,545 (GRCm39)	K209N	probably benign	Het
Zfp493	A	G	13: 67,934,526 (GRCm39)	T160A	probably benign	Het
Zfp974	A	T	7: 27,610,940 (GRCm39)	C262S	possibly damaging	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
R0620:B3galt2	UTSW	1	143,521,878 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAAGCCAGACCTGCCTCCTAG -3'
(R):5'- TTTGCGGTGTCGATACCTGC -3'

Sequencing Primer
(F):5'- CTCCTAGACATAACTATTTTACTGGC -3'
(R):5'- ATCAGTTCACTAGGTTGGAACTG -3'

Posted On

2018-05-24