Mutagenetix > Incidental Mutation

Incidental Mutation 'R7879:B4galnt2'

608656

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

045931-MU

Accession Numbers

Essential gene?

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

Stock #

R7879 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95756769-95805717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95760223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 268 (T268I)

Ref Sequence

ENSEMBL: ENSMUSP00000037239 (fasta)

Gene Model

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

AlphaFold

Q09199

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038343
AA Change: T268I

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: T268I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,439,662 (GRCm39)	I81T	probably benign	Het
Acnat2	G	A	4: 49,383,299 (GRCm39)	P85S	probably damaging	Het
Akr1c19	G	A	13: 4,286,223 (GRCm39)	V74M	probably damaging	Het
Alb	C	A	5: 90,620,507 (GRCm39)	T539K	probably benign	Het
Bcl7b	G	A	5: 135,205,986 (GRCm39)	E58K	possibly damaging	Het
Calr3	C	T	8: 73,178,487 (GRCm39)	S372N	unknown	Het
Cdcp3	T	A	7: 130,844,871 (GRCm39)	V588E	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Cdh20	A	C	1: 109,976,677 (GRCm39)	E114A	probably benign	Het
Cep70	A	G	9: 99,144,686 (GRCm39)	R74G	possibly damaging	Het
Chrna6	A	G	8: 27,897,109 (GRCm39)	F256S	probably damaging	Het
Cic	A	G	7: 24,984,551 (GRCm39)	T996A	probably benign	Het
Clstn2	A	G	9: 97,351,817 (GRCm39)	V536A	possibly damaging	Het
Csmd1	A	T	8: 16,441,820 (GRCm39)	M348K	probably benign	Het
Dnah11	A	C	12: 118,004,744 (GRCm39)	D2192E	probably damaging	Het
Dnhd1	A	G	7: 105,352,646 (GRCm39)	I2600V	probably benign	Het
Dock3	A	C	9: 106,785,700 (GRCm39)	S185A	probably benign	Het
Dock4	A	T	12: 40,780,083 (GRCm39)	D628V	possibly damaging	Het
Dzank1	A	T	2: 144,333,718 (GRCm39)	S371T	probably benign	Het
Fam83b	A	T	9: 76,399,737 (GRCm39)	N455K	possibly damaging	Het
Fcrlb	T	C	1: 170,736,365 (GRCm39)	Y137C	probably damaging	Het
Gtf2i	G	A	5: 134,295,471 (GRCm39)	T327M	possibly damaging	Het
Hspa5	T	A	2: 34,665,941 (GRCm39)	M595K	probably benign	Het
Htt	C	T	5: 34,981,252 (GRCm39)	A875V	probably benign	Het
Hvcn1	G	A	5: 122,376,701 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,238,145 (GRCm39)	S679P	probably damaging	Het
Itsn2	A	G	12: 4,751,265 (GRCm39)	H1285R	probably benign	Het
Kcnq4	T	C	4: 120,559,632 (GRCm39)	T523A	probably benign	Het
Kif6	T	A	17: 50,139,214 (GRCm39)	I562N	probably benign	Het
Klhl9	C	A	4: 88,638,575 (GRCm39)	W555C	probably damaging	Het
Krt78	T	C	15: 101,856,624 (GRCm39)	T423A	probably benign	Het
Mapk10	C	T	5: 103,111,362 (GRCm39)	V391I	probably benign	Het
Noa1	T	C	5: 77,445,044 (GRCm39)	M592V	probably benign	Het
Npy5r	A	G	8: 67,133,968 (GRCm39)	M275T	possibly damaging	Het
Nuak2	T	A	1: 132,259,695 (GRCm39)	V499E	probably benign	Het
Or4x6	A	T	2: 89,949,185 (GRCm39)	C252*	probably null	Het
Or6c213	T	C	10: 129,574,559 (GRCm39)	I76V	probably benign	Het
Otogl	T	C	10: 107,612,970 (GRCm39)	E2052G	probably benign	Het
Pard3b	T	A	1: 62,198,670 (GRCm39)	C253S	possibly damaging	Het
Pclo	T	C	5: 14,727,228 (GRCm39)	S2029P	unknown	Het
Plekhg3	A	G	12: 76,612,343 (GRCm39)	I401M	probably damaging	Het
Polg	A	T	7: 79,100,392 (GRCm39)	C1140S	probably benign	Het
Prl7c1	A	T	13: 27,962,817 (GRCm39)	L62H	probably damaging	Het
Psmf1	T	A	2: 151,576,163 (GRCm39)	E115V	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Qrich1	A	G	9: 108,436,485 (GRCm39)	T728A	possibly damaging	Het
Ralgps2	C	A	1: 156,656,636 (GRCm39)	A323S	probably benign	Het
Rimbp3	T	C	16: 17,028,910 (GRCm39)	V778A	possibly damaging	Het
Scn1a	A	T	2: 66,116,349 (GRCm39)	L430*	probably null	Het
Sema7a	A	T	9: 57,862,363 (GRCm39)	I189F	probably damaging	Het
Slc22a8	T	C	19: 8,571,386 (GRCm39)	I39T	probably benign	Het
Stap2	T	C	17: 56,309,023 (GRCm39)	T115A	probably benign	Het
Stmn4	A	G	14: 66,595,388 (GRCm39)	I138V	probably benign	Het
Suds3	C	T	5: 117,236,335 (GRCm39)		probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet1	A	C	10: 62,714,825 (GRCm39)	D323E	probably benign	Het
Tia1	A	G	6: 86,401,347 (GRCm39)	D140G	probably damaging	Het
Trio	C	T	15: 27,852,010 (GRCm39)	R827H	possibly damaging	Het
Ttn	A	G	2: 76,625,397 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,549,866 (GRCm39)	V708A	probably benign	Het
Vmn1r194	A	T	13: 22,428,772 (GRCm39)	T130S	probably benign	Het
Wfikkn2	A	G	11: 94,129,755 (GRCm39)	C129R	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	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
R6239:B4galnt2	UTSW	11	95,767,065 (GRCm39)	missense	probably damaging	0.99
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
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'- GGGGACATACCTTCCCAAAG -3'
(R):5'- AACTCCTGTGTACAGAAGGC -3'

Sequencing Primer
(F):5'- TTCCCAAAGGGCATGGTGTAGTAC -3'
(R):5'- CTCCTGTGTACAGAAGGCACGAG -3'

Posted On

2019-12-20