Incidental Mutation 'R3768:B3gnt2'
ID 273124
Institutional Source Beutler Lab
Gene Symbol B3gnt2
Ensembl Gene ENSMUSG00000051650
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Synonyms B3gnt1, B3Galt6
MMRRC Submission 040745-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R3768 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 22784739-22810336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22786765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 141 (K141R)
Ref Sequence ENSEMBL: ENSMUSP00000133306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055549] [ENSMUST00000062844] [ENSMUST00000160826] [ENSMUST00000173660]
AlphaFold Q9Z222
Predicted Effect possibly damaging
Transcript: ENSMUST00000055549
AA Change: K141R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: K141R

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000062844
AA Change: K141R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: K141R

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160826
SMART Domains Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650

DomainStartEndE-ValueType
Pfam:HCaRG 1 99 1.3e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173660
AA Change: K141R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189990
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(3) Gene trapped(2)
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,204,217 (GRCm39) R353G probably benign Het
Ank1 A G 8: 23,606,202 (GRCm39) D1153G possibly damaging Het
Ankrd12 T C 17: 66,292,715 (GRCm39) Y906C probably benign Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Arid4a A G 12: 71,113,893 (GRCm39) K160R probably damaging Het
Atp8a2 T A 14: 60,281,785 (GRCm39) H142L probably benign Het
Btbd7 G A 12: 102,761,451 (GRCm39) P578L probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cnga4 A G 7: 105,056,887 (GRCm39) N330S probably damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Cxcl15 A C 5: 90,949,303 (GRCm39) D156A unknown Het
D630045J12Rik A G 6: 38,119,844 (GRCm39) S1633P probably damaging Het
Dock10 T A 1: 80,510,085 (GRCm39) N1581I probably damaging Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dscaml1 T A 9: 45,643,435 (GRCm39) F1285I possibly damaging Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Kctd19 T C 8: 106,123,112 (GRCm39) T101A probably benign Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lrp2 C T 2: 69,335,449 (GRCm39) D1425N probably benign Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Ncor2 A G 5: 125,105,751 (GRCm39) V1613A probably damaging Het
Nlgn2 C T 11: 69,719,230 (GRCm39) V207I possibly damaging Het
Or10v1 G A 19: 11,873,676 (GRCm39) G97D probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Or2y14 T C 11: 49,404,600 (GRCm39) I45T probably damaging Het
Or4d10c A G 19: 12,065,304 (GRCm39) I284T probably damaging Het
Osbpl3 G A 6: 50,324,982 (GRCm39) P172L possibly damaging Het
Pabpc4 T A 4: 123,188,405 (GRCm39) V338D probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pik3c3 T A 18: 30,466,326 (GRCm39) S792R probably damaging Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sap25 T A 5: 137,640,632 (GRCm39) F171I probably damaging Het
Serpinb11 T C 1: 107,305,392 (GRCm39) probably null Het
Tarm1 A T 7: 3,546,097 (GRCm39) S69T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp36 T C 11: 118,153,878 (GRCm39) K846R probably damaging Het
Zfp229 A T 17: 21,964,844 (GRCm39) H358L probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in B3gnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:B3gnt2 APN 11 22,786,151 (GRCm39) missense probably benign 0.34
IGL01061:B3gnt2 APN 11 22,786,042 (GRCm39) missense probably damaging 1.00
IGL01123:B3gnt2 APN 11 22,786,490 (GRCm39) missense probably benign 0.01
IGL01455:B3gnt2 APN 11 22,787,042 (GRCm39) missense probably damaging 1.00
R0094:B3gnt2 UTSW 11 22,786,655 (GRCm39) missense probably damaging 0.99
R0309:B3gnt2 UTSW 11 22,786,860 (GRCm39) missense probably damaging 0.98
R0747:B3gnt2 UTSW 11 22,786,316 (GRCm39) missense possibly damaging 0.95
R1163:B3gnt2 UTSW 11 22,786,558 (GRCm39) missense probably benign 0.02
R2016:B3gnt2 UTSW 11 22,786,621 (GRCm39) missense probably damaging 1.00
R2017:B3gnt2 UTSW 11 22,786,621 (GRCm39) missense probably damaging 1.00
R2066:B3gnt2 UTSW 11 22,786,735 (GRCm39) missense probably damaging 1.00
R2090:B3gnt2 UTSW 11 22,786,291 (GRCm39) missense probably benign 0.00
R4604:B3gnt2 UTSW 11 22,786,426 (GRCm39) frame shift probably null
R4680:B3gnt2 UTSW 11 22,787,105 (GRCm39) missense probably damaging 1.00
R5623:B3gnt2 UTSW 11 22,787,018 (GRCm39) missense probably damaging 0.97
R6589:B3gnt2 UTSW 11 22,787,117 (GRCm39) missense probably damaging 1.00
R6731:B3gnt2 UTSW 11 22,786,888 (GRCm39) nonsense probably null
R7391:B3gnt2 UTSW 11 22,786,482 (GRCm39) nonsense probably null
R7970:B3gnt2 UTSW 11 22,786,255 (GRCm39) missense probably damaging 1.00
R8183:B3gnt2 UTSW 11 22,786,373 (GRCm39) missense probably benign 0.19
R8801:B3gnt2 UTSW 11 22,787,002 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTGGTGCTTGTCACTCTCAAAC -3'
(R):5'- CTTGAACAGGGTGGCCAATC -3'

Sequencing Primer
(F):5'- GGTGCTTGTCACTCTCAAACTTAAG -3'
(R):5'- ACAGGGGAGCTAGCCACATC -3'
Posted On 2015-03-25