Mutagenetix > Incidental Mutation

Incidental Mutation 'R6239:B4galnt2'

505133

Institutional Source

Beutler Lab

Gene Symbol

B4galnt2

Ensembl Gene

ENSMUSG00000013418

Gene Name

beta-1,4-N-acetyl-galactosaminyl transferase 2

Synonyms

Dlb-1, Galgt2, Dlb1

MMRRC Submission

044363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95756769-95805717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95767065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 184 (A184T)

Ref Sequence

ENSEMBL: ENSMUSP00000037239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038343]

AlphaFold

Q09199

Predicted Effect

probably damaging
Transcript: ENSMUST00000038343
AA Change: A184T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: A184T

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
low complexity region	125	138	N/A	INTRINSIC
Pfam:Glycos_transf_2	268	433	1.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129261

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele show increased startle reflex, increased systemic arterial diastolic blood pressure, abnormal B cell number, increased neutrophil cell number, and increased circulating alkaline phosphatase level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	A	1: 78,674,182 (GRCm39)	S373T	probably benign	Het
Aox1	G	A	1: 58,344,550 (GRCm39)		probably null	Het
Apol7c	T	C	15: 77,410,631 (GRCm39)	E105G	probably benign	Het
Castor1	A	G	11: 4,168,967 (GRCm39)	T45A	possibly damaging	Het
Casz1	A	G	4: 149,022,734 (GRCm39)	Q600R	probably damaging	Het
Cep152	A	T	2: 125,421,332 (GRCm39)	S1133T	probably benign	Het
Cep295	T	C	9: 15,233,927 (GRCm39)	I2290V	possibly damaging	Het
Clmn	A	T	12: 104,747,104 (GRCm39)	H814Q	probably benign	Het
Creb3l1	A	G	2: 91,825,748 (GRCm39)	C124R	probably damaging	Het
Cspg4	A	G	9: 56,795,466 (GRCm39)	D1067G	probably benign	Het
Cyp1a1	T	A	9: 57,609,361 (GRCm39)	V354E	probably benign	Het
Cyp2t4	A	T	7: 26,856,900 (GRCm39)	Q280L	possibly damaging	Het
Dcaf6	A	T	1: 165,178,839 (GRCm39)	D563E	possibly damaging	Het
Dennd2a	A	G	6: 39,465,750 (GRCm39)	F607L	probably damaging	Het
Dennd2d	T	A	3: 106,402,193 (GRCm39)	F288I	probably damaging	Het
Dnah8	C	T	17: 31,029,333 (GRCm39)	R4101C	probably damaging	Het
Dnai4	A	C	4: 102,923,640 (GRCm39)	N396K	probably benign	Het
Dnase2a	G	T	8: 85,635,508 (GRCm39)		probably null	Het
Dnmbp	C	T	19: 43,836,624 (GRCm39)	V1235I	probably benign	Het
Eml6	T	C	11: 29,699,275 (GRCm39)	D1826G	probably damaging	Het
Fam186b	T	C	15: 99,178,315 (GRCm39)	Y337C	probably benign	Het
Flg2	A	T	3: 93,108,579 (GRCm39)	E202D	probably benign	Het
Fus	C	T	7: 127,580,606 (GRCm39)	R228C	possibly damaging	Het
Gbf1	A	G	19: 46,248,135 (GRCm39)	E304G	probably benign	Het
Ggt1	A	G	10: 75,421,515 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,245,918 (GRCm39)	D354V	probably damaging	Het
Hdac4	T	C	1: 91,982,694 (GRCm39)	D8G	probably benign	Het
Hhat	A	T	1: 192,277,395 (GRCm39)	Y355N	probably damaging	Het
Ift140	T	C	17: 25,247,946 (GRCm39)	V268A	probably benign	Het
Il4i1	A	G	7: 44,489,836 (GRCm39)	R542G	probably benign	Het
Itga2b	C	T	11: 102,356,144 (GRCm39)	V328I	possibly damaging	Het
Kmt2a	T	C	9: 44,731,093 (GRCm39)		probably benign	Het
Lrit3	A	T	3: 129,593,995 (GRCm39)	I194N	probably damaging	Het
Mast4	A	G	13: 102,872,717 (GRCm39)	L2025P	probably benign	Het
Neb	T	C	2: 52,164,000 (GRCm39)	N1986S	probably benign	Het
Osbpl7	G	A	11: 96,943,650 (GRCm39)		probably null	Het
Pabpc2	T	A	18: 39,906,891 (GRCm39)	L52Q	probably damaging	Het
Pald1	T	C	10: 61,156,910 (GRCm39)	S847G	possibly damaging	Het
Pcdh12	T	C	18: 38,415,454 (GRCm39)	D557G	probably damaging	Het
Prmt2	A	T	10: 76,058,425 (GRCm39)	L128*	probably null	Het
Ptpn3	C	A	4: 57,249,981 (GRCm39)	A172S	probably benign	Het
Ptpro	A	T	6: 137,357,606 (GRCm39)	T366S	probably benign	Het
Reg4	A	G	3: 98,138,600 (GRCm39)	K100R	probably null	Het
Rims2	A	T	15: 39,061,758 (GRCm39)	M1L	unknown	Het
Sele	A	G	1: 163,878,377 (GRCm39)	S239G	probably damaging	Het
Slc11a1	G	A	1: 74,423,274 (GRCm39)	R375Q	possibly damaging	Het
Slc13a3	T	C	2: 165,248,617 (GRCm39)	T554A	unknown	Het
Snw1	A	T	12: 87,511,398 (GRCm39)	N84K	probably damaging	Het
Stpg4	T	C	17: 87,718,667 (GRCm39)	Y171C	probably benign	Het
Styxl2	A	T	1: 165,926,388 (GRCm39)	S1075T	probably damaging	Het
Tmem222	T	A	4: 132,995,606 (GRCm39)	H147L	probably damaging	Het
Tmprss11f	G	T	5: 86,681,636 (GRCm39)	R206S	probably damaging	Het
Trappc11	G	A	8: 47,982,529 (GRCm39)	T70M	possibly damaging	Het
Trpv4	G	A	5: 114,782,887 (GRCm39)	T25I	probably benign	Het
Ttr	T	C	18: 20,806,692 (GRCm39)	V114A	possibly damaging	Het
Umod	C	T	7: 119,076,520 (GRCm39)	C82Y	probably damaging	Het
Upk3a	T	A	15: 84,905,515 (GRCm39)	M208K	probably damaging	Het
Vmn1r59	G	A	7: 5,457,539 (GRCm39)	P74S	probably damaging	Het
Vwa3a	A	T	7: 120,393,457 (GRCm39)	R851S	probably benign	Het
Zfp236	G	T	18: 82,675,229 (GRCm39)	T421K	possibly damaging	Het
Zswim9	C	A	7: 12,995,257 (GRCm39)	G300*	probably null	Het

Other mutations in B4galnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03252:B4galnt2	APN	11	95,764,757 (GRCm39)	missense	probably damaging	0.99
R0594:B4galnt2	UTSW	11	95,782,735 (GRCm39)	missense	probably benign	0.00
R1216:B4galnt2	UTSW	11	95,782,767 (GRCm39)	missense	probably benign	0.02
R1344:B4galnt2	UTSW	11	95,760,181 (GRCm39)	missense	probably benign	0.43
R1735:B4galnt2	UTSW	11	95,781,809 (GRCm39)	missense	probably damaging	0.99
R4706:B4galnt2	UTSW	11	95,766,923 (GRCm39)	critical splice donor site	probably null
R4707:B4galnt2	UTSW	11	95,766,923 (GRCm39)	critical splice donor site	probably null
R4867:B4galnt2	UTSW	11	95,759,252 (GRCm39)	missense	probably damaging	1.00
R4937:B4galnt2	UTSW	11	95,759,255 (GRCm39)	missense	probably damaging	1.00
R4967:B4galnt2	UTSW	11	95,760,100 (GRCm39)	missense	probably benign	0.19
R5077:B4galnt2	UTSW	11	95,767,140 (GRCm39)	intron	probably benign
R5822:B4galnt2	UTSW	11	95,756,985 (GRCm39)	missense	probably damaging	1.00
R6225:B4galnt2	UTSW	11	95,759,268 (GRCm39)	missense	probably damaging	1.00
R6653:B4galnt2	UTSW	11	95,782,747 (GRCm39)	missense	probably benign
R6747:B4galnt2	UTSW	11	95,759,460 (GRCm39)	splice site	probably null
R6969:B4galnt2	UTSW	11	95,782,756 (GRCm39)	missense	probably benign	0.02
R7448:B4galnt2	UTSW	11	95,760,193 (GRCm39)	missense	probably damaging	1.00
R7879:B4galnt2	UTSW	11	95,760,223 (GRCm39)	missense	possibly damaging	0.87
R8372:B4galnt2	UTSW	11	95,760,106 (GRCm39)	missense	possibly damaging	0.61
R8397:B4galnt2	UTSW	11	95,756,989 (GRCm39)	missense	probably benign	0.00
R8966:B4galnt2	UTSW	11	95,781,811 (GRCm39)	missense	probably damaging	1.00
R9253:B4galnt2	UTSW	11	95,759,176 (GRCm39)	splice site	silent
R9755:B4galnt2	UTSW	11	95,774,801 (GRCm39)	nonsense	probably null
X0009:B4galnt2	UTSW	11	95,781,887 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCCAGCAGTTTGTGATCAGAAG -3'
(R):5'- TGGCCATCCTGAGTACTTGC -3'

Sequencing Primer
(F):5'- TTGTGATCAGAAGACAGACCTGTGTC -3'
(R):5'- CCGTGGCATTTAGAATCTTTCAG -3'

Posted On

2018-02-28