Mutagenetix > Incidental Mutation

Incidental Mutation 'R1216:B4galnt2'

99659

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

039285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1216 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95756769-95805717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95782767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 15 (L15P)

Ref Sequence

ENSEMBL: ENSMUSP00000037239 (fasta)

Gene Model

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

AlphaFold

Q09199

Predicted Effect

probably benign
Transcript: ENSMUST00000038343
AA Change: L15P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: L15P

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

Meta Mutation Damage Score

0.1415

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

98% (45/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,868,716 (GRCm39)	D332V	probably damaging	Het
Akr1c12	T	C	13: 4,326,322 (GRCm39)	Y53C	probably benign	Het
Arhgap23	T	C	11: 97,383,498 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,710,276 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,583,472 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dppa4	T	C	16: 48,113,343 (GRCm39)	F244S	possibly damaging	Het
Exoc1	A	G	5: 76,702,035 (GRCm39)	K445R	probably benign	Het
Fam47e	A	G	5: 92,710,343 (GRCm39)	E114G	probably damaging	Het
Fgf12	A	T	16: 27,981,202 (GRCm39)	N171K	possibly damaging	Het
Fyb2	G	A	4: 104,852,903 (GRCm39)	V528M	possibly damaging	Het
Ghr	A	G	15: 3,349,337 (GRCm39)	S614P	probably damaging	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gpr152	T	A	19: 4,193,554 (GRCm39)	V365D	possibly damaging	Het
Guca1a	A	G	17: 47,706,637 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,310,997 (GRCm39)	G1079D	probably benign	Het
Hnrnpm	T	C	17: 33,868,687 (GRCm39)	D580G	probably damaging	Het
Ints6	A	T	14: 62,945,147 (GRCm39)	D394E	probably damaging	Het
Kat6b	T	A	14: 21,672,108 (GRCm39)	Y339*	probably null	Het
Kcnj11	C	A	7: 45,749,285 (GRCm39)	V13L	probably benign	Het
Lama3	C	T	18: 12,554,191 (GRCm39)		probably benign	Het
Mtrex	A	G	13: 113,050,876 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,709,473 (GRCm39)	T161A	probably benign	Het
Ncapg	G	T	5: 45,857,261 (GRCm39)	S991I	possibly damaging	Het
Nrde2	G	A	12: 100,116,069 (GRCm39)		probably benign	Het
Or4c127	T	A	2: 89,832,822 (GRCm39)	I24N	probably benign	Het
Or5d18	T	C	2: 87,864,602 (GRCm39)	R294G	probably damaging	Het
Pcdhb7	A	T	18: 37,476,927 (GRCm39)	T688S	probably damaging	Het
Pla2g6	T	C	15: 79,190,635 (GRCm39)	D309G	probably benign	Het
Plod1	A	T	4: 148,005,584 (GRCm39)	V404D	probably damaging	Het
Ppp2r2a	G	T	14: 67,266,447 (GRCm39)	Y71*	probably null	Het
Prcp	A	G	7: 92,566,954 (GRCm39)	N222S	probably benign	Het
Rad21	T	C	15: 51,833,532 (GRCm39)	T316A	possibly damaging	Het
Ranbp2	T	C	10: 58,319,034 (GRCm39)		probably benign	Het
Rapgef4	C	A	2: 72,038,492 (GRCm39)	P548T	possibly damaging	Het
Ric1	G	T	19: 29,555,135 (GRCm39)	M416I	probably benign	Het
Slc9a8	T	C	2: 167,266,041 (GRCm39)	F6S	probably benign	Het
Smpdl3a	T	G	10: 57,678,575 (GRCm39)	I126S	probably null	Het
Sphkap	A	T	1: 83,268,698 (GRCm39)	L98Q	probably damaging	Het
Spink4	T	G	4: 40,924,974 (GRCm39)		probably benign	Het
Taar5	A	T	10: 23,847,605 (GRCm39)	L334F	probably damaging	Het
Tecta	A	T	9: 42,289,203 (GRCm39)	I454K	probably benign	Het
Ttc7	C	T	17: 87,654,006 (GRCm39)	T561M	possibly damaging	Het
Vmn2r9	G	T	5: 108,995,440 (GRCm39)	H403N	probably damaging	Het
Zdbf2	G	A	1: 63,342,161 (GRCm39)	C180Y	possibly 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
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
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'- CTCCCAGTGAAGTTGCAAGGTTACC -3'
(R):5'- TTTACGTGGTTGCAGGAGACTGCAC -3'

Sequencing Primer
(F):5'- GTCTACGATGTCTAAGGCTCAAG -3'
(R):5'- gcaggagactgcactcagg -3'

Posted On

2014-01-15