Mutagenetix > Incidental Mutation

Incidental Mutation 'R1534:B4galt2'

166813

Institutional Source

Beutler Lab

Gene Symbol

B4galt2

Ensembl Gene

ENSMUSG00000028541

Gene Name

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2

Synonyms

MMRRC Submission

039573-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R1534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117730197-117740759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117734669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 233 (H233R)

Ref Sequence

ENSEMBL: ENSMUSP00000102029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030266] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000106422] [ENSMUST00000131938] [ENSMUST00000149168] [ENSMUST00000153358] [ENSMUST00000171052] [ENSMUST00000166325] [ENSMUST00000171548] [ENSMUST00000167443]

AlphaFold

Q9Z2Y2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030266
AA Change: H233R

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

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541
AA Change: H233R

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	228	4.2e-59	PFAM
Pfam:Glyco_transf_7C	232	310	2.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084325
AA Change: H233R

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

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541
AA Change: H233R

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106421
AA Change: H233R

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

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541
AA Change: H233R

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106422

SMART Domains

Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137016

Predicted Effect

probably benign
Transcript: ENSMUST00000149168

SMART Domains

Protein: ENSMUSP00000129359
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
low complexity region	91	116	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170733

Predicted Effect

probably benign
Transcript: ENSMUST00000153358

SMART Domains

Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	197	9.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171052

SMART Domains

Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
Pfam:CCDC24	21	201	3.9e-67	PFAM
low complexity region	282	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166325

SMART Domains

Protein: ENSMUSP00000131493
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
coiled coil region	33	57	N/A	INTRINSIC
low complexity region	61	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171548

SMART Domains

Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167443

SMART Domains

Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	188	1.1e-24	PFAM

Meta Mutation Damage Score

0.9693

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased brain weight, ectopic Purkinje cells in the cerebellum, and impaired spatial learning and coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,345,881 (GRCm39)	I310T	probably damaging	Het
Adcy5	T	C	16: 35,073,629 (GRCm39)	V469A	possibly damaging	Het
Agrn	C	T	4: 156,261,141 (GRCm39)	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,413,977 (GRCm39)	V133M	probably damaging	Het
Ankrd13c	A	G	3: 157,706,757 (GRCm39)	T448A	probably benign	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bpifb5	T	G	2: 154,071,419 (GRCm39)	Y249D	possibly damaging	Het
Brd1	T	C	15: 88,573,866 (GRCm39)	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,726,083 (GRCm39)	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,839,593 (GRCm39)	K343N	probably benign	Het
Cyp4f18	T	A	8: 72,746,799 (GRCm39)	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,378 (GRCm39)	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,421,247 (GRCm39)	D391G	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,944,238 (GRCm39)	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,672,057 (GRCm39)	T52S	probably benign	Het
Gan	G	A	8: 117,914,168 (GRCm39)	V189I	probably benign	Het
Hnf1b	A	G	11: 83,784,409 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,036,431 (GRCm39)	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lrrc18	A	G	14: 32,730,478 (GRCm39)	K6E	possibly damaging	Het
Map2	G	A	1: 66,452,339 (GRCm39)	V492I	probably benign	Het
Mtr	A	T	13: 12,250,430 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,269,330 (GRCm39)	A689E	possibly damaging	Het
Or52n2c	G	A	7: 104,574,621 (GRCm39)	L117F	possibly damaging	Het
Or5w22	T	A	2: 87,363,016 (GRCm39)	V213D	probably damaging	Het
Palm	T	G	10: 79,652,737 (GRCm39)	V42G	probably damaging	Het
Pcm1	G	A	8: 41,740,738 (GRCm39)	V995I	probably benign	Het
Pfkp	A	G	13: 6,669,574 (GRCm39)	V215A	probably damaging	Het
Prkg2	T	C	5: 99,142,420 (GRCm39)	Y238C	probably damaging	Het
Prr14	C	T	7: 127,073,154 (GRCm39)	A167V	probably benign	Het
Ptprn	A	C	1: 75,234,587 (GRCm39)		probably null	Het
Rexo2	A	T	9: 48,380,190 (GRCm39)	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,830,233 (GRCm39)	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Satb2	A	T	1: 56,987,392 (GRCm39)	C64*	probably null	Het
Sez6	A	G	11: 77,853,871 (GRCm39)	Y347C	probably damaging	Het
Sos2	A	G	12: 69,663,729 (GRCm39)	I585T	probably damaging	Het
Spg11	G	A	2: 121,922,806 (GRCm39)	T881M	probably damaging	Het
Tiam1	A	T	16: 89,664,396 (GRCm39)		probably null	Het
Tlcd5	A	G	9: 43,022,923 (GRCm39)	W126R	probably damaging	Het
Top1	T	C	2: 160,556,152 (GRCm39)	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,248,138 (GRCm39)	S33G	probably benign	Het
Tspan11	G	C	6: 127,926,768 (GRCm39)	V239L	probably benign	Het
Ubr4	T	C	4: 139,155,462 (GRCm39)	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,896,806 (GRCm39)	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440 (GRCm39)	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,427,954 (GRCm39)	S771P	probably benign	Het
Wars2	C	T	3: 99,124,177 (GRCm39)	A346V	probably damaging	Het
Wdr87-ps	G	T	7: 29,229,854 (GRCm39)		noncoding transcript	Het
Zfp142	G	T	1: 74,611,247 (GRCm39)	N849K	probably benign	Het
Zfp180	A	T	7: 23,800,948 (GRCm39)	N66I	probably benign	Het

Other mutations in B4galt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:B4galt2	APN	4	117,734,378 (GRCm39)	missense	probably damaging	0.99
IGL02207:B4galt2	APN	4	117,738,718 (GRCm39)	missense	probably damaging	1.00
IGL02224:B4galt2	APN	4	117,734,110 (GRCm39)	missense	probably benign	0.00
IGL02724:B4galt2	APN	4	117,734,075 (GRCm39)	critical splice donor site	probably null
IGL02949:B4galt2	APN	4	117,738,602 (GRCm39)	missense	probably benign	0.05
R1164:B4galt2	UTSW	4	117,734,141 (GRCm39)	missense	possibly damaging	0.96
R4715:B4galt2	UTSW	4	117,734,376 (GRCm39)	missense	possibly damaging	0.92
R5640:B4galt2	UTSW	4	117,731,195 (GRCm39)	missense	probably benign
R6492:B4galt2	UTSW	4	117,734,164 (GRCm39)	missense	probably damaging	0.99
R6974:B4galt2	UTSW	4	117,731,148 (GRCm39)	missense	probably damaging	0.98
R7126:B4galt2	UTSW	4	117,734,735 (GRCm39)	missense	probably damaging	1.00
R9220:B4galt2	UTSW	4	117,734,399 (GRCm39)	missense	probably damaging	1.00
R9467:B4galt2	UTSW	4	117,738,123 (GRCm39)	missense	probably damaging	1.00
Z1177:B4galt2	UTSW	4	117,738,266 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCGTTGGGAAAGCCATTGATCCTC -3'
(R):5'- AGCAAATCTGTGTCCGTCCACC -3'

Sequencing Primer
(F):5'- TTGATCCTCAGAAACTGGGC -3'
(R):5'- GTCCACCCATTCGCCAG -3'

Posted On

2014-04-13