Mutagenetix > Incidental Mutation

Incidental Mutation 'R6339:B3galt2'

513798

Institutional Source

Beutler Lab

Gene Symbol

B3galt2

Ensembl Gene

ENSMUSG00000033849

Gene Name

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

Synonyms

MMRRC Submission

044493-MU

Accession Numbers

Essential gene?

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

Stock #

R6339 (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 143522640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 259 (T259S)

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: T259S

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046118
Gene: ENSMUSG00000033849
AA Change: T259S

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

0.1869

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

97% (69/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933424G06Rik	A	T	1: 36,749,542 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,310,091 (GRCm39)	S743R	probably damaging	Het
Ak8	A	G	2: 28,624,460 (GRCm39)		probably null	Het
Alpk2	A	G	18: 65,482,877 (GRCm39)	M377T	probably benign	Het
Ap1g1	G	A	8: 110,571,000 (GRCm39)	V425I	possibly damaging	Het
Apob	A	T	12: 8,066,188 (GRCm39)	R4353W	probably damaging	Het
Arhgef38	T	C	3: 132,839,423 (GRCm39)	K540R	probably benign	Het
Btbd8	G	A	5: 107,651,583 (GRCm39)	V159I	probably benign	Het
C2cd2l	T	C	9: 44,224,788 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Ccdc171	A	T	4: 83,661,234 (GRCm39)	T1115S	probably damaging	Het
Chst2	C	T	9: 95,287,803 (GRCm39)	G181D	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Cpt1a	A	C	19: 3,412,152 (GRCm39)	D208A	probably benign	Het
Crocc2	A	G	1: 93,141,754 (GRCm39)	E1183G	probably benign	Het
Defa39	G	A	8: 22,193,485 (GRCm39)	S45F	possibly damaging	Het
Dlg5	T	A	14: 24,208,128 (GRCm39)	H1003L	probably damaging	Het
Dok2	A	T	14: 71,013,158 (GRCm39)	I109L	probably benign	Het
Dpy19l4	A	T	4: 11,285,111 (GRCm39)	I465K	probably damaging	Het
Dync1h1	A	T	12: 110,612,639 (GRCm39)	D2838V	probably damaging	Het
Frem3	A	G	8: 81,339,644 (GRCm39)	R646G	possibly damaging	Het
Gcfc2	T	A	6: 81,923,477 (GRCm39)	F514I	probably damaging	Het
Gm8104	T	C	14: 42,958,942 (GRCm39)	M44T	probably benign	Het
Golph3l	T	A	3: 95,524,750 (GRCm39)	W334R	probably damaging	Het
Gpr179	A	T	11: 97,235,002 (GRCm39)	F443I	probably damaging	Het
Ift172	A	G	5: 31,413,927 (GRCm39)	V1467A	probably benign	Het
Ift172	A	T	5: 31,444,289 (GRCm39)	D44E	probably damaging	Het
Il1rl1	C	T	1: 40,501,016 (GRCm39)	A464V	possibly damaging	Het
Irx5	A	G	8: 93,086,481 (GRCm39)	E188G	probably damaging	Het
Jak1	A	G	4: 101,019,123 (GRCm39)	V710A	probably damaging	Het
Kcng4	A	T	8: 120,359,693 (GRCm39)	F228I	probably damaging	Het
Lifr	A	G	15: 7,196,530 (GRCm39)	N238S	probably benign	Het
Ltbp3	C	A	19: 5,797,505 (GRCm39)	H414Q	probably damaging	Het
Mcpt8	A	G	14: 56,319,794 (GRCm39)	C219R	probably benign	Het
Mepce	A	T	5: 137,783,950 (GRCm39)	N125K	possibly damaging	Het
Mfap3	T	C	11: 57,420,598 (GRCm39)	F193S	probably damaging	Het
Miox	T	A	15: 89,219,702 (GRCm39)	Y63*	probably null	Het
Msl2	A	T	9: 100,978,949 (GRCm39)	H441L	probably benign	Het
Nemp2	T	A	1: 52,680,069 (GRCm39)	S98T	possibly damaging	Het
Neto2	G	T	8: 86,367,187 (GRCm39)	A547E	probably benign	Het
Nol12	T	C	15: 78,825,033 (GRCm39)		probably benign	Het
Npr3	T	C	15: 11,845,361 (GRCm39)	I504V	probably damaging	Het
Or4c106	A	G	2: 88,683,215 (GRCm39)	D307G	probably null	Het
Pcdhb3	T	C	18: 37,433,998 (GRCm39)		probably benign	Het
Pear1	C	A	3: 87,659,827 (GRCm39)	G720W	probably damaging	Het
Pibf1	T	G	14: 99,344,834 (GRCm39)	D151E	probably damaging	Het
Pla2g6	T	A	15: 79,193,016 (GRCm39)	N217I	probably damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Plcl1	C	T	1: 55,735,474 (GRCm39)	L272F	probably damaging	Het
Ppp4r4	A	T	12: 103,571,228 (GRCm39)	K656*	probably null	Het
Prr22	G	A	17: 57,078,490 (GRCm39)	M214I	probably benign	Het
Ror1	G	T	4: 100,269,128 (GRCm39)	R322L	possibly damaging	Het
Sh3tc2	G	A	18: 62,108,642 (GRCm39)	W244*	probably null	Het
Slamf6	A	G	1: 171,775,615 (GRCm39)	N320S	probably null	Het
Slc1a6	A	C	10: 78,635,919 (GRCm39)	D328A	possibly damaging	Het
Sorl1	G	T	9: 41,881,038 (GRCm39)	T2161K	probably benign	Het
Spata31e2	T	A	1: 26,721,586 (GRCm39)	D1198V	probably benign	Het
Sstr2	T	C	11: 113,515,375 (GRCm39)	F98S	probably damaging	Het
Stk33	A	T	7: 108,920,672 (GRCm39)	D348E	probably benign	Het
Sulf1	T	A	1: 12,908,664 (GRCm39)	L559Q	probably damaging	Het
Syne2	A	G	12: 76,035,927 (GRCm39)	D3738G	probably benign	Het
Taok3	A	T	5: 117,366,095 (GRCm39)	Q382L	probably benign	Het
Tet2	T	A	3: 133,192,178 (GRCm39)	H752L	possibly damaging	Het
Tia1	A	C	6: 86,403,638 (GRCm39)	K285T	probably damaging	Het
Tle3	G	T	9: 61,309,206 (GRCm39)		probably null	Het
Top1mt	T	C	15: 75,537,505 (GRCm39)	T414A	possibly damaging	Het
Ubc	A	T	5: 125,464,406 (GRCm39)	I307N	probably damaging	Het
Vmn2r96	A	T	17: 18,804,124 (GRCm39)	D266V	possibly damaging	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zfp456	T	A	13: 67,510,483 (GRCm39)	K102*	probably null	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	probably 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
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'- CCTGGCATCCAAATCATACGG -3'
(R):5'- TTCCTGAGCAGAAGACAGGG -3'

Sequencing Primer
(F):5'- GCTAAATGGCTATCTTCAACATGC -3'
(R):5'- GTAGCGCTCACTTGGGTAAAG -3'

Posted On

2018-04-27