Incidental Mutation 'IGL01061:B3gnt2'
ID 52187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gnt2
Ensembl Gene ENSMUSG00000051650
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Synonyms B3gnt1, B3Galt6
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL01061
Quality Score
Status
Chromosome 11
Chromosomal Location 22784739-22810336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22786042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 382 (E382V)
Ref Sequence ENSEMBL: ENSMUSP00000060247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055549] [ENSMUST00000062844] [ENSMUST00000160826] [ENSMUST00000173660]
AlphaFold Q9Z222
Predicted Effect probably damaging
Transcript: ENSMUST00000055549
AA Change: E382V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: E382V

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000062844
AA Change: E382V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: E382V

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 benign
Transcript: ENSMUST00000173660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189990
Coding Region Coverage
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
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in B3gnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:B3gnt2 APN 11 22,786,151 (GRCm39) missense probably benign 0.34
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
R8801:B3gnt2 UTSW 11 22,787,002 (GRCm39) missense probably damaging 0.98
Posted On 2013-06-21