Incidental Mutation 'R8801:B3gnt2'
ID 671505
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 068611-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R8801 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 22784739-22810336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22787002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 62 (E62G)
Ref Sequence ENSEMBL: ENSMUSP00000053528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055549] [ENSMUST00000062844] [ENSMUST00000160826] [ENSMUST00000173660]
AlphaFold Q9Z222
Predicted Effect probably damaging
Transcript: ENSMUST00000055549
AA Change: E62G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: E62G

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000062844
AA Change: E62G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: E62G

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: E62G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,808,972 (GRCm39) V100I unknown Het
Acta2 G T 19: 34,229,207 (GRCm39) Q61K probably damaging Het
Adamts20 T G 15: 94,258,490 (GRCm39) D357A probably damaging Het
Adcy4 A G 14: 56,009,452 (GRCm39) F798S probably benign Het
Aldh16a1 A G 7: 44,791,438 (GRCm39) V779A probably benign Het
Arid1b C A 17: 5,387,103 (GRCm39) P1466T probably benign Het
Bcan A C 3: 87,904,582 (GRCm39) V58G probably damaging Het
Bhlhe41 T C 6: 145,810,339 (GRCm39) Q66R probably damaging Het
Cdh6 G A 15: 13,044,847 (GRCm39) T425I probably damaging Het
Ciao2b C T 8: 105,367,599 (GRCm39) probably null Het
Csmd2 A G 4: 128,457,195 (GRCm39) Y3554C probably damaging Het
Csmd3 T A 15: 48,321,024 (GRCm39) H262L possibly damaging Het
Dgcr8 A G 16: 18,098,500 (GRCm39) F334S probably damaging Het
Dipk1c T C 18: 84,757,617 (GRCm39) S234P probably benign Het
Dsg1c A G 18: 20,410,022 (GRCm39) T497A probably benign Het
Dsp T C 13: 38,381,502 (GRCm39) V2749A possibly damaging Het
Esr1 A G 10: 4,916,270 (GRCm39) N486D unknown Het
Fbn2 T C 18: 58,287,021 (GRCm39) T213A probably damaging Het
Fbxo41 T A 6: 85,461,663 (GRCm39) E15V probably damaging Het
Fga G A 3: 82,938,188 (GRCm39) A188T possibly damaging Het
Frk C T 10: 34,423,402 (GRCm39) S160F possibly damaging Het
Gm4559 CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT 7: 141,827,553 (GRCm39) probably benign Het
Gss T C 2: 155,406,686 (GRCm39) Y432C probably damaging Het
Ifi27l2b A T 12: 103,423,298 (GRCm39) F5I unknown Het
Insm1 T A 2: 146,065,346 (GRCm39) Y387* probably null Het
Klf12 T G 14: 100,260,172 (GRCm39) I186L probably benign Het
Klrg1 C T 6: 122,248,342 (GRCm39) V186I probably benign Het
Loxl3 G T 6: 83,025,629 (GRCm39) W329L probably damaging Het
Lyst T A 13: 13,835,595 (GRCm39) V1759E probably benign Het
Mlph G A 1: 90,870,609 (GRCm39) V507I probably benign Het
Mroh8 G A 2: 157,075,086 (GRCm39) T470M probably damaging Het
Nampt T C 12: 32,888,373 (GRCm39) Y175H possibly damaging Het
Nedd4l A G 18: 65,288,346 (GRCm39) E2G probably damaging Het
Nrxn1 A G 17: 91,009,393 (GRCm39) probably benign Het
Optc A G 1: 133,832,819 (GRCm39) S94P possibly damaging Het
Or8k33 A G 2: 86,383,727 (GRCm39) V247A probably benign Het
Oxtr T A 6: 112,466,873 (GRCm39) probably benign Het
Phip T C 9: 82,758,305 (GRCm39) R1463G probably benign Het
Pramel30 A G 4: 144,059,438 (GRCm39) Y383C probably benign Het
Psmc3ip T C 11: 100,984,617 (GRCm39) N76S probably benign Het
Reln T A 5: 22,155,854 (GRCm39) M2213L possibly damaging Het
Rock1 T C 18: 10,070,260 (GRCm39) D1271G probably damaging Het
Rprd1a T G 18: 24,641,280 (GRCm39) E112A probably benign Het
Sacm1l A T 9: 123,411,384 (GRCm39) D391V probably damaging Het
Serpina3f A T 12: 104,185,737 (GRCm39) H314L probably benign Het
Setd5 T A 6: 113,127,853 (GRCm39) S1269T possibly damaging Het
Syne1 T C 10: 5,308,335 (GRCm39) E740G probably damaging Het
Tcaf1 T A 6: 42,663,742 (GRCm39) Q46L probably damaging Het
Tcam1 G A 11: 106,173,618 (GRCm39) A21T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Ttll11 A T 2: 35,792,985 (GRCm39) L286H probably damaging Het
Usp1 A G 4: 98,822,848 (GRCm39) T721A probably benign Het
Vps41 T C 13: 18,998,403 (GRCm39) S241P possibly damaging 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
R3768:B3gnt2 UTSW 11 22,786,765 (GRCm39) missense probably damaging 0.98
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
Predicted Primers PCR Primer
(F):5'- CAGCGAGTAATTCCGGCATC -3'
(R):5'- TCCCAGGTATGAGAGATGAGTG -3'

Sequencing Primer
(F):5'- GCGAGTAATTCCGGCATCTCAAATAC -3'
(R):5'- GTGGGGCGTCGAAGAGTC -3'
Posted On 2021-04-30