Mutagenetix > Incidental Mutation

Incidental Mutation 'R8397:B4galnt2'

647676

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

067760-MU

Accession Numbers

Essential gene?

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

Stock #

R8397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95756769-95805717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95756989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 481 (T481S)

Ref Sequence

ENSEMBL: ENSMUSP00000037239 (fasta)

Gene Model

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

AlphaFold

Q09199

Predicted Effect

probably benign
Transcript: ENSMUST00000038343
AA Change: T481S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: T481S

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,767,141 (GRCm39)	T499A	probably benign	Het
Ahsa1	G	T	12: 87,320,451 (GRCm39)	E311*	probably null	Het
Apol9a	C	T	15: 77,288,813 (GRCm39)	V185I	probably benign	Het
Arhgap27	T	A	11: 103,224,073 (GRCm39)	D580V	probably damaging	Het
Arpp21	A	C	9: 111,978,440 (GRCm39)	S298A	possibly damaging	Het
Cct8	G	A	16: 87,290,651 (GRCm39)	R59C	possibly damaging	Het
Cdhr5	C	T	7: 140,851,801 (GRCm39)	G501E	possibly damaging	Het
Chka	G	A	19: 3,902,414 (GRCm39)		probably null	Het
Cit	C	A	5: 116,024,856 (GRCm39)	N366K	probably benign	Het
Dennd4a	A	T	9: 64,796,391 (GRCm39)	M806L	probably benign	Het
Dhx9	T	A	1: 153,344,657 (GRCm39)	H510L	probably damaging	Het
Esyt3	C	T	9: 99,209,966 (GRCm39)	V305I	probably benign	Het
Fbxo40	A	T	16: 36,790,985 (GRCm39)	C42S	probably damaging	Het
Fbxw26	T	C	9: 109,561,715 (GRCm39)	M160V	probably damaging	Het
Frem2	A	G	3: 53,560,562 (GRCm39)	V1315A	probably benign	Het
Gbp9	T	A	5: 105,231,464 (GRCm39)	N374I	possibly damaging	Het
Gm11992	T	G	11: 9,011,305 (GRCm39)	S249A	probably damaging	Het
Gm14418	T	A	2: 177,079,086 (GRCm39)	Q303L	probably damaging	Het
Hectd4	C	A	5: 121,397,957 (GRCm39)	P295Q	probably damaging	Het
Kdm2b	T	C	5: 123,018,579 (GRCm39)	N954D	probably benign	Het
Klf15	C	T	6: 90,443,778 (GRCm39)	H118Y	probably damaging	Het
Lrit2	G	T	14: 36,791,034 (GRCm39)	A238S	probably damaging	Het
Man2c1	A	C	9: 57,042,783 (GRCm39)	M218L	probably benign	Het
Map3k1	T	A	13: 111,892,138 (GRCm39)	H1039L	probably damaging	Het
Map3k9	A	G	12: 81,769,136 (GRCm39)	S971P	probably benign	Het
Map4k3	C	T	17: 80,971,446 (GRCm39)	V74I	probably damaging	Het
Mars1	A	T	10: 127,136,368 (GRCm39)	S486T	possibly damaging	Het
Mettl13	A	T	1: 162,371,887 (GRCm39)	S327R	possibly damaging	Het
Mkks	G	A	2: 136,722,923 (GRCm39)	T78M	possibly damaging	Het
Mst1	C	T	9: 107,958,698 (GRCm39)		probably benign	Het
Myh1	G	T	11: 67,112,465 (GRCm39)	A1811S	probably damaging	Het
Myh13	A	G	11: 67,241,113 (GRCm39)	H830R	possibly damaging	Het
Nek4	A	G	14: 30,692,505 (GRCm39)	D443G	possibly damaging	Het
Nf1	T	C	11: 79,438,518 (GRCm39)	L137P	probably damaging	Het
Nipsnap3b	T	C	4: 53,012,049 (GRCm39)		probably null	Het
Nos1ap	G	T	1: 170,155,194 (GRCm39)	P220T	unknown	Het
Nrxn3	T	A	12: 90,298,583 (GRCm39)	I368N	probably benign	Het
Nup133	T	A	8: 124,649,156 (GRCm39)	Q562L	probably benign	Het
Nup214	T	A	2: 31,880,266 (GRCm39)	L342Q	probably damaging	Het
Nxn	A	G	11: 76,163,232 (GRCm39)	S264P	probably damaging	Het
Or11g24	G	T	14: 50,662,137 (GRCm39)	D54Y	probably damaging	Het
Otud4	T	C	8: 80,395,927 (GRCm39)	S567P	probably benign	Het
Patl2	A	C	2: 121,955,754 (GRCm39)	S261A	probably damaging	Het
Pcdh15	C	T	10: 74,126,865 (GRCm39)	P315S	probably damaging	Het
Pcm1	T	A	8: 41,736,616 (GRCm39)	H827Q	probably damaging	Het
Pirb	G	A	7: 3,719,045 (GRCm39)	L615F	probably damaging	Het
Ppp1r12c	T	A	7: 4,492,768 (GRCm39)	H236L	probably damaging	Het
Prkd1	C	T	12: 50,439,675 (GRCm39)	G384E	probably benign	Het
Rmnd1	C	A	10: 4,377,278 (GRCm39)	E134*	probably null	Het
Rusc2	T	A	4: 43,424,206 (GRCm39)	H1090Q	possibly damaging	Het
Sema5b	A	C	16: 35,471,691 (GRCm39)	Y428S	possibly damaging	Het
Slc2a8	T	A	2: 32,866,010 (GRCm39)	I301L	probably benign	Het
Slc38a11	C	T	2: 65,160,635 (GRCm39)	V320M	probably damaging	Het
Slc4a5	G	T	6: 83,266,308 (GRCm39)		probably null	Het
Slc7a6	T	C	8: 106,920,165 (GRCm39)	I320T	probably damaging	Het
Slc8a3	A	G	12: 81,246,542 (GRCm39)	I837T	probably benign	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Tlr3	A	T	8: 45,851,896 (GRCm39)	F334I	possibly damaging	Het
Unc13b	A	G	4: 43,217,290 (GRCm39)	I530V	probably benign	Het
Vmn2r68	T	C	7: 84,886,722 (GRCm39)	D64G	possibly damaging	Het
Zfp157	T	A	5: 138,454,518 (GRCm39)	Y239N	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
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
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'- GGTACCCTCCAATGTCCAATC -3'
(R):5'- TTTAGTGGAACCCAGCGGAC -3'

Sequencing Primer
(F):5'- CGATTCCTGGTCTTGGTAC -3'
(R):5'- TCTCCAATCTGAGAAACTGAGG -3'

Posted On

2020-09-02