Incidental Mutation 'R6653:B4galnt2'
ID 526522
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 044774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6653 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 95756769-95805717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95782747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 22 (M22L)
Ref Sequence ENSEMBL: ENSMUSP00000037239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038343]
AlphaFold Q09199
Predicted Effect probably benign
Transcript: ENSMUST00000038343
AA Change: M22L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: M22L

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 119,945,229 (GRCm39) L435R probably benign Het
Abcc2 T A 19: 43,800,941 (GRCm39) H627Q probably benign Het
Ankhd1 A T 18: 36,733,836 (GRCm39) probably null Het
Ankrd50 T A 3: 38,511,510 (GRCm39) I286F probably damaging Het
Asb15 A G 6: 24,562,632 (GRCm39) N198S probably benign Het
Bcdin3d T C 15: 99,368,696 (GRCm39) T168A probably damaging Het
Bmp1 A T 14: 70,728,058 (GRCm39) W624R probably damaging Het
Cdh4 C T 2: 179,422,221 (GRCm39) A115V probably benign Het
Cfap53 A G 18: 74,433,280 (GRCm39) T122A probably damaging Het
Chsy1 A G 7: 65,759,941 (GRCm39) K95E probably benign Het
Csde1 C A 3: 102,960,184 (GRCm39) P604T probably damaging Het
Cts7 A T 13: 61,502,817 (GRCm39) L237Q probably damaging Het
Cutal C T 2: 34,775,933 (GRCm39) T88I probably benign Het
Dlg4 G T 11: 69,914,779 (GRCm39) probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eif2b4 C T 5: 31,349,551 (GRCm39) E53K possibly damaging Het
Erp44 T C 4: 48,205,130 (GRCm39) I288V probably null Het
Fcamr A G 1: 130,740,939 (GRCm39) T453A possibly damaging Het
Glb1l3 T C 9: 26,770,884 (GRCm39) T61A probably benign Het
Gpr26 T C 7: 131,585,830 (GRCm39) S267P probably benign Het
Heatr6 A T 11: 83,650,191 (GRCm39) T216S probably benign Het
Hephl1 C T 9: 14,993,260 (GRCm39) V525I probably damaging Het
Jak2 T A 19: 29,266,110 (GRCm39) I517N probably benign Het
Kbtbd4 T A 2: 90,740,113 (GRCm39) Y499* probably null Het
Kif1a A T 1: 93,005,420 (GRCm39) I118N probably damaging Het
Klhdc7b A G 15: 89,271,292 (GRCm39) S725G probably benign Het
Mfsd13a T C 19: 46,356,305 (GRCm39) F137L probably damaging Het
Myo7a T A 7: 97,703,710 (GRCm39) Y1977F probably damaging Het
Naip2 T G 13: 100,298,352 (GRCm39) K561N probably benign Het
Naip2 C T 13: 100,288,644 (GRCm39) V1194I probably benign Het
Nkx2-4 G T 2: 146,925,860 (GRCm39) A334E possibly damaging Het
Nlrp9c T A 7: 26,070,747 (GRCm39) N945Y probably damaging Het
Or2z2 A T 11: 58,346,394 (GRCm39) I127N probably damaging Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Or8g20 A G 9: 39,396,048 (GRCm39) V164A probably benign Het
Pcdha7 A G 18: 37,107,539 (GRCm39) Q188R probably benign Het
Phf3 A T 1: 30,844,104 (GRCm39) S1618R possibly damaging Het
Phip C A 9: 82,782,794 (GRCm39) E884* probably null Het
Plxnc1 C A 10: 94,779,738 (GRCm39) V235L probably damaging Het
Qser1 A G 2: 104,610,605 (GRCm39) V1226A possibly damaging Het
Ros1 G T 10: 52,018,299 (GRCm39) S786R probably damaging Het
Rps6ka5 A G 12: 100,517,795 (GRCm39) S769P probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Specc1 T G 11: 62,037,244 (GRCm39) S813A probably damaging Het
Spry1 T C 3: 37,696,871 (GRCm39) I38T probably damaging Het
Tagap T C 17: 8,152,546 (GRCm39) V577A probably benign Het
Tmem44 T C 16: 30,356,369 (GRCm39) D110G probably damaging Het
Ubn2 A G 6: 38,411,397 (GRCm39) E97G possibly damaging Het
Ubr4 C A 4: 139,200,935 (GRCm39) H4706Q possibly damaging Het
Usp25 T A 16: 76,856,176 (GRCm39) N256K probably benign Het
Vmn2r112 T A 17: 22,820,160 (GRCm39) L11Q probably null Het
Wnt2b C A 3: 104,860,502 (GRCm39) R135L probably damaging Het
Zfp60 T C 7: 27,448,151 (GRCm39) F273S probably benign Het
Other mutations in B4galnt2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GATGTCTAAGGCTCAAGGAGAATC -3'
(R):5'- TTTACGTGGTTGCAGGAGAC -3'

Sequencing Primer
(F):5'- TGGAGCACCCAGAGTCTCAC -3'
(R):5'- ACTGCACTCAGGCCCCTC -3'
Posted On 2018-07-23