Mutagenetix > Incidental Mutation

Incidental Mutation 'R7448:B4galnt2'

577494

Institutional Source

Beutler Lab

Gene Symbol

B4galnt2

Ensembl Gene

ENSMUSG00000013418

Gene Name

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

Synonyms

Galgt2, Dlb-1, Dlb1

MMRRC Submission

045523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R7448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95865943-95914891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95869367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 278 (H278L)

Ref Sequence

ENSEMBL: ENSMUSP00000037239 (fasta)

Gene Model

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

AlphaFold

Q09199

Predicted Effect

probably damaging
Transcript: ENSMUST00000038343
AA Change: H278L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: H278L

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

0.2106

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (117/117)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,257,266 (GRCm38)	N256D	probably damaging	Het
1700015F17Rik	T	C	5: 5,455,952 (GRCm38)	I110V	probably benign	Het
Acss2	T	C	2: 155,518,266 (GRCm38)	S54P	probably damaging	Het
Ahnak2	T	C	12: 112,782,502 (GRCm38)	K1242E		Het
Alpi	T	A	1: 87,101,535 (GRCm38)	M1L	possibly damaging	Het
Atp2c1	C	T	9: 105,452,783 (GRCm38)	A283T	probably damaging	Het
Atp8b5	T	G	4: 43,366,021 (GRCm38)	M764R	probably benign	Het
Bcl9l	G	T	9: 44,509,337 (GRCm38)	A1347S	probably benign	Het
Bicd2	A	G	13: 49,379,951 (GRCm38)	E671G	probably damaging	Het
Bmp3	A	T	5: 98,872,218 (GRCm38)	I167F	probably damaging	Het
Bpifb5	T	A	2: 154,230,185 (GRCm38)	C271S	possibly damaging	Het
Camsap2	T	A	1: 136,270,906 (GRCm38)	H793L		Het
Casp8ap2	T	A	4: 32,643,974 (GRCm38)	S1016T	possibly damaging	Het
Ccdc134	T	A	15: 82,140,948 (GRCm38)	I216N	possibly damaging	Het
Ccdc63	G	T	5: 122,108,182 (GRCm38)	R559S	probably benign	Het
Cd276	T	C	9: 58,535,612 (GRCm38)	T187A	probably benign	Het
Ciao1	C	T	2: 127,245,758 (GRCm38)	R219H	probably damaging	Het
Clmn	T	C	12: 104,785,428 (GRCm38)	D256G	possibly damaging	Het
Cobl	A	C	11: 12,256,225 (GRCm38)	M550R	possibly damaging	Het
Cracr2b	A	T	7: 141,464,205 (GRCm38)	T117S	probably benign	Het
Cx3cr1	G	A	9: 120,052,216 (GRCm38)	A40V	probably benign	Het
Cxcl14	A	G	13: 56,292,531 (GRCm38)	C72R	probably damaging	Het
Dab2	T	A	15: 6,422,266 (GRCm38)	I121N	probably damaging	Het
Dapk1	A	G	13: 60,751,176 (GRCm38)	Y820C	probably damaging	Het
Ech1	T	A	7: 28,826,198 (GRCm38)	C91S	probably damaging	Het
Exosc5	T	G	7: 25,659,309 (GRCm38)	V25G	probably benign	Het
Fam160a1	G	A	3: 85,672,564 (GRCm38)	S778L	probably benign	Het
Fbp1	A	C	13: 62,872,750 (GRCm38)	D122E	possibly damaging	Het
Fbxw13	A	G	9: 109,185,403 (GRCm38)	Y101H	unknown	Het
Fmnl1	T	A	11: 103,186,627 (GRCm38)	V271E	probably damaging	Het
Fuk	C	T	8: 110,890,331 (GRCm38)	G396S	possibly damaging	Het
Galnt1	T	A	18: 24,284,809 (GRCm38)	S545T	probably benign	Het
Galnt13	G	A	2: 54,516,564 (GRCm38)	V9M	possibly damaging	Het
Gatsl3	A	G	11: 4,221,897 (GRCm38)	S325G	not run	Het
Gm3550	A	G	18: 34,737,527 (GRCm38)	K38R	probably damaging	Het
Gm7995	A	T	14: 42,310,345 (GRCm38)	I45F		Het
Gpr137	C	T	19: 6,940,358 (GRCm38)	R134Q	possibly damaging	Het
Gpr22	T	G	12: 31,709,515 (GRCm38)	I203L	probably benign	Het
H2-Q10	T	C	17: 35,473,560 (GRCm38)	Y324H	not run	Het
Hcn4	G	A	9: 58,844,299 (GRCm38)	E403K	unknown	Het
Hddc2	T	A	10: 31,313,416 (GRCm38)	M1K	probably null	Het
Hps3	A	G	3: 20,035,165 (GRCm38)	F34S	probably damaging	Het
Igdcc4	G	T	9: 65,123,994 (GRCm38)	V405L	possibly damaging	Het
Itpr2	C	A	6: 146,329,508 (GRCm38)	V1215L	probably damaging	Het
Kif26b	T	C	1: 178,914,774 (GRCm38)	S812P	probably damaging	Het
Lgi1	T	A	19: 38,301,265 (GRCm38)	C260S	probably damaging	Het
Lhfp	A	G	3: 53,260,599 (GRCm38)	Y198C	probably damaging	Het
Lrp5	T	C	19: 3,649,439 (GRCm38)	D282G	probably benign	Het
Lrpprc	T	C	17: 84,772,139 (GRCm38)	T230A	probably damaging	Het
Lrtm2	A	G	6: 119,320,823 (GRCm38)	W86R	probably benign	Het
Magi2	G	A	5: 20,358,956 (GRCm38)	G199D	probably damaging	Het
Map1b	C	T	13: 99,508,140 (GRCm38)	R85Q	probably damaging	Het
March7	T	A	2: 60,247,514 (GRCm38)		probably null	Het
Morc1	A	G	16: 48,431,345 (GRCm38)	D2G	probably damaging	Het
Mpp7	A	T	18: 7,351,079 (GRCm38)	F539L	probably damaging	Het
Muc13	A	T	16: 33,814,581 (GRCm38)	I502F	probably damaging	Het
Myh13	A	G	11: 67,364,460 (GRCm38)		probably null	Het
Nat10	C	G	2: 103,748,045 (GRCm38)	L238F	probably damaging	Het
Nckap1	G	A	2: 80,524,541 (GRCm38)	T679I	probably damaging	Het
Npy6r	T	A	18: 44,276,193 (GRCm38)	I227N	probably damaging	Het
Nudt18	A	T	14: 70,577,949 (GRCm38)	M1L	unknown	Het
Olfr1306	T	A	2: 111,912,292 (GRCm38)	I213L	probably benign	Het
Olfr26	C	A	9: 38,855,116 (GRCm38)	T18K	probably damaging	Het
Olfr270	T	A	4: 52,971,207 (GRCm38)	N195K	probably damaging	Het
Olfr298	G	A	7: 86,489,209 (GRCm38)	T114I	probably damaging	Het
Olfr52	T	C	2: 86,181,334 (GRCm38)	Y259C	probably damaging	Het
Pcdha3	T	A	18: 36,946,213 (GRCm38)	F3I	probably benign	Het
Pcdhga3	T	A	18: 37,675,864 (GRCm38)	Y457N	possibly damaging	Het
Pclo	A	T	5: 14,669,617 (GRCm38)	Q1256L	unknown	Het
Piezo2	C	T	18: 63,024,472 (GRCm38)	R2389H	probably damaging	Het
Pml	G	T	9: 58,247,213 (GRCm38)	Q126K	probably benign	Het
Ppef2	A	G	5: 92,228,704 (GRCm38)	Y655H	probably damaging	Het
Ppp4r1	T	C	17: 65,840,941 (GRCm38)	V926A	probably damaging	Het
Psg29	A	G	7: 17,211,723 (GRCm38)	D406G	possibly damaging	Het
Ptprf	T	C	4: 118,235,667 (GRCm38)	D517G	probably benign	Het
Ptprg	G	A	14: 12,142,461 (GRCm38)	E371K	probably benign	Het
Rasgrp1	T	A	2: 117,291,697 (GRCm38)	D404V	possibly damaging	Het
Rasgrp1	T	C	2: 117,287,943 (GRCm38)	I522V	probably damaging	Het
Rb1cc1	T	A	1: 6,245,503 (GRCm38)	F541I	probably damaging	Het
Rgsl1	C	A	1: 153,844,101 (GRCm38)		probably null	Het
Rhobtb2	C	T	14: 69,795,948 (GRCm38)	W524*	probably null	Het
Rhox4d	G	A	X: 37,518,992 (GRCm38)	G191E	unknown	Het
Rims1	A	G	1: 22,404,475 (GRCm38)	S211P		Het
Ripor2	A	T	13: 24,670,071 (GRCm38)	Q54L	possibly damaging	Het
Rnf213	A	G	11: 119,481,291 (GRCm38)	I4903V		Het
Robo3	T	A	9: 37,424,815 (GRCm38)	I452F	possibly damaging	Het
Seh1l	C	T	18: 67,783,918 (GRCm38)	H56Y	probably damaging	Het
Sema3b	T	A	9: 107,602,963 (GRCm38)	D192V	probably damaging	Het
Sidt1	A	T	16: 44,286,400 (GRCm38)	C222*	probably null	Het
Skor1	A	G	9: 63,146,103 (GRCm38)	F195L	probably damaging	Het
Slc44a2	A	C	9: 21,348,346 (GRCm38)	K596N	possibly damaging	Het
Smgc	A	G	15: 91,845,493 (GRCm38)	K217E	probably benign	Het
Socs7	C	A	11: 97,377,091 (GRCm38)	H349Q	possibly damaging	Het
Speer4f2	A	G	5: 17,376,542 (GRCm38)	T161A		Het
Spg11	T	C	2: 122,093,545 (GRCm38)		probably null	Het
Ssb	A	G	2: 69,863,280 (GRCm38)	T11A	probably benign	Het
Sun1	A	G	5: 139,246,834 (GRCm38)	S837G	probably damaging	Het
Szt2	A	C	4: 118,363,471 (GRCm38)	S3385A	unknown	Het
Tapbp	T	C	17: 33,920,417 (GRCm38)	V129A	possibly damaging	Het
Thsd1	T	C	8: 22,243,333 (GRCm38)	I132T	possibly damaging	Het
Tm6sf2	T	A	8: 70,077,939 (GRCm38)	V223E	possibly damaging	Het
Tm9sf4	T	A	2: 153,194,347 (GRCm38)	M343K	probably benign	Het
Tmem57	A	T	4: 134,828,279 (GRCm38)	N294K	possibly damaging	Het
Trank1	C	A	9: 111,366,349 (GRCm38)	P1147Q	probably benign	Het
Trip4	G	A	9: 65,866,475 (GRCm38)	T275M	probably damaging	Het
Tsen34	T	C	7: 3,695,835 (GRCm38)		probably null	Het
Ttc26	T	A	6: 38,404,487 (GRCm38)	Y319*	probably null	Het
Ttn	T	C	2: 76,850,078 (GRCm38)	E1086G	unknown	Het
Ubr4	A	T	4: 139,462,467 (GRCm38)	M853L	unknown	Het
Ubxn11	A	T	4: 134,125,155 (GRCm38)	R352W	probably damaging	Het
Vmn1r35	G	A	6: 66,679,235 (GRCm38)		probably benign	Het
Vmn2r107	C	T	17: 20,375,732 (GRCm38)	T849I	probably benign	Het
Vmn2r93	C	A	17: 18,325,986 (GRCm38)	L707I	probably benign	Het
Wwc1	G	A	11: 35,875,706 (GRCm38)	T574I	probably benign	Het
Zfp143	A	G	7: 110,070,498 (GRCm38)	M45V	probably benign	Het
Zfp518a	T	A	19: 40,914,157 (GRCm38)	N843K	possibly damaging	Het
Zfp87	A	T	13: 67,517,044 (GRCm38)	M433K	probably benign	Het
Zfp873	C	A	10: 82,060,627 (GRCm38)	H397Q	probably damaging	Het
Zscan21	A	T	5: 138,117,848 (GRCm38)		probably benign	Het

Other mutations in B4galnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03252:B4galnt2	APN	11	95,873,931 (GRCm38)	missense	probably damaging	0.99
R0594:B4galnt2	UTSW	11	95,891,909 (GRCm38)	missense	probably benign	0.00
R1216:B4galnt2	UTSW	11	95,891,941 (GRCm38)	missense	probably benign	0.02
R1344:B4galnt2	UTSW	11	95,869,355 (GRCm38)	missense	probably benign	0.43
R1735:B4galnt2	UTSW	11	95,890,983 (GRCm38)	missense	probably damaging	0.99
R4706:B4galnt2	UTSW	11	95,876,097 (GRCm38)	critical splice donor site	probably null
R4707:B4galnt2	UTSW	11	95,876,097 (GRCm38)	critical splice donor site	probably null
R4867:B4galnt2	UTSW	11	95,868,426 (GRCm38)	missense	probably damaging	1.00
R4937:B4galnt2	UTSW	11	95,868,429 (GRCm38)	missense	probably damaging	1.00
R4967:B4galnt2	UTSW	11	95,869,274 (GRCm38)	missense	probably benign	0.19
R5077:B4galnt2	UTSW	11	95,876,314 (GRCm38)	intron	probably benign
R5822:B4galnt2	UTSW	11	95,866,159 (GRCm38)	missense	probably damaging	1.00
R6225:B4galnt2	UTSW	11	95,868,442 (GRCm38)	missense	probably damaging	1.00
R6239:B4galnt2	UTSW	11	95,876,239 (GRCm38)	missense	probably damaging	0.99
R6653:B4galnt2	UTSW	11	95,891,921 (GRCm38)	missense	probably benign
R6747:B4galnt2	UTSW	11	95,868,634 (GRCm38)	splice site	probably null
R6969:B4galnt2	UTSW	11	95,891,930 (GRCm38)	missense	probably benign	0.02
R7879:B4galnt2	UTSW	11	95,869,397 (GRCm38)	missense	possibly damaging	0.87
R8372:B4galnt2	UTSW	11	95,869,280 (GRCm38)	missense	possibly damaging	0.61
R8397:B4galnt2	UTSW	11	95,866,163 (GRCm38)	missense	probably benign	0.00
R8966:B4galnt2	UTSW	11	95,890,985 (GRCm38)	missense	probably damaging	1.00
R9253:B4galnt2	UTSW	11	95,868,350 (GRCm38)	splice site	silent
R9755:B4galnt2	UTSW	11	95,883,975 (GRCm38)	nonsense	probably null
X0009:B4galnt2	UTSW	11	95,891,061 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTGGGAGCTAAATGTCCCC -3'
(R):5'- TCCTGTGTACAGAAGGCACGAG -3'

Sequencing Primer
(F):5'- GAGCTAAATGTCCCCAGTCTGAG -3'
(R):5'- GCTCAATTGGTAGAATGCTCAGC -3'

Posted On

2019-10-07