Incidental Mutation 'R0747:B3gnt2'
ID 70192
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 038928-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R0747 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 22784739-22810336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22786316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 291 (I291V)
Ref Sequence ENSEMBL: ENSMUSP00000060247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055549] [ENSMUST00000062844] [ENSMUST00000160826] [ENSMUST00000173660]
AlphaFold Q9Z222
Predicted Effect possibly damaging
Transcript: ENSMUST00000055549
AA Change: I291V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: I291V

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000062844
AA Change: I291V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: I291V

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
Meta Mutation Damage Score 0.1135 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 A T 11: 46,009,322 (GRCm39) probably null Het
Anks4b C T 7: 119,781,386 (GRCm39) A139V probably damaging Het
Arf1 G A 11: 59,103,461 (GRCm39) R149C probably benign Het
Axl A T 7: 25,463,484 (GRCm39) C598S possibly damaging Het
Ccdc158 T A 5: 92,781,156 (GRCm39) H883L probably benign Het
Cep15 T A 14: 12,287,287 (GRCm38) M16K probably benign Het
Col6a3 A G 1: 90,730,375 (GRCm39) S1644P probably damaging Het
Cspg4 T C 9: 56,797,564 (GRCm39) S1343P probably damaging Het
D430041D05Rik G T 2: 104,060,651 (GRCm39) H1414Q probably damaging Het
Dnah5 C G 15: 28,444,332 (GRCm39) I4043M probably damaging Het
Dnah5 T A 15: 28,444,333 (GRCm39) C4044S possibly damaging Het
Dpep3 C T 8: 106,704,018 (GRCm39) A267T probably benign Het
Dync1h1 A C 12: 110,578,845 (GRCm39) H106P probably benign Het
Dync1h1 A C 12: 110,595,718 (GRCm39) E1466A probably damaging Het
Fggy T C 4: 95,700,337 (GRCm39) probably benign Het
Frmd6 A G 12: 70,910,830 (GRCm39) T5A probably benign Het
Gnb5 G A 9: 75,218,752 (GRCm39) V26I probably benign Het
Hephl1 A T 9: 14,965,297 (GRCm39) probably benign Het
Hmmr C T 11: 40,612,572 (GRCm39) probably benign Het
Hpn A T 7: 30,798,971 (GRCm39) F356Y probably damaging Het
Iqgap3 T C 3: 88,014,810 (GRCm39) probably benign Het
Ism2 A G 12: 87,332,172 (GRCm39) probably benign Het
Kansl1 T A 11: 104,233,802 (GRCm39) M754L probably benign Het
Kcnc4 A T 3: 107,355,470 (GRCm39) I326N probably damaging Het
Lcn6 G A 2: 25,567,184 (GRCm39) V62M probably damaging Het
Lrp1b A T 2: 40,760,353 (GRCm39) C2858S probably damaging Het
Lyn G A 4: 3,745,638 (GRCm39) probably benign Het
Mov10 T A 3: 104,709,812 (GRCm39) H358L probably benign Het
Notch1 A G 2: 26,362,152 (GRCm39) V60A unknown Het
Or2t6 C T 14: 14,175,429 (GRCm38) A218T probably benign Het
Pgap2 C A 7: 101,886,343 (GRCm39) Y176* probably null Het
Pglyrp1 A G 7: 18,624,200 (GRCm39) Q161R possibly damaging Het
Plod3 A G 5: 137,017,049 (GRCm39) N66S probably benign Het
Psmc3 A G 2: 90,884,645 (GRCm39) E18G probably benign Het
Psme3 T G 11: 101,207,872 (GRCm39) M9R probably benign Het
Rapgef4 A G 2: 72,053,417 (GRCm39) N428S possibly damaging Het
Rbp3 A G 14: 33,678,235 (GRCm39) I728V possibly damaging Het
Sall4 A T 2: 168,596,886 (GRCm39) H651Q probably damaging Het
Skint3 T A 4: 112,111,102 (GRCm39) Y76N probably damaging Het
Slc13a4 T C 6: 35,255,263 (GRCm39) T342A probably damaging Het
Slc25a1 G T 16: 17,744,084 (GRCm39) T239K probably damaging Het
Slc36a2 T A 11: 55,060,685 (GRCm39) I242F probably benign Het
Tekt2 G A 4: 126,217,553 (GRCm39) Q171* probably null Het
Tet2 T G 3: 133,173,231 (GRCm39) H1677P possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trcg1 C T 9: 57,149,204 (GRCm39) P259S probably benign Het
Ttn A C 2: 76,540,942 (GRCm39) S25688A probably damaging Het
Vmn2r117 T A 17: 23,694,477 (GRCm39) R457* probably null Het
Zbbx C T 3: 75,062,734 (GRCm39) V8I probably 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
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
Predicted Primers PCR Primer
(F):5'- CCCAGTTTCTGAAGGCACATTCCC -3'
(R):5'- TTTGAGAGTGACAAGCACCAGGAC -3'

Sequencing Primer
(F):5'- TGAAGGCACATTCCCGTATAAAC -3'
(R):5'- CAACCTGTCCCTGAAGGAAGTG -3'
Posted On 2013-09-30