Incidental Mutation 'R5623:B3gnt2'
ID 441696
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 043162-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R5623 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 22784739-22810336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 22787018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 57 (A57P)
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: A57P

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: A57P

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000062844
AA Change: A57P

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: A57P

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: A57P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189990
Meta Mutation Damage Score 0.1734 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (65/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b1 T G 18: 64,679,165 (GRCm39) Q772P possibly damaging Het
Birc6 T G 17: 74,835,651 (GRCm39) D63E probably damaging Het
Ccdc13 T C 9: 121,662,799 (GRCm39) E72G probably damaging Het
Cfap221 C T 1: 119,881,898 (GRCm39) A297T probably benign Het
Chd1 T A 17: 15,975,194 (GRCm39) N1081K probably damaging Het
Chrm3 C A 13: 9,927,423 (GRCm39) V538L possibly damaging Het
Clec16a T A 16: 10,428,985 (GRCm39) N37K probably benign Het
Cnksr3 T A 10: 7,070,548 (GRCm39) I229F probably damaging Het
Cspg4b T C 13: 113,483,168 (GRCm39) I1590T possibly damaging Het
Dchs1 T C 7: 105,421,976 (GRCm39) E148G probably damaging Het
Diaph1 A T 18: 38,029,146 (GRCm39) probably benign Het
Dis3l A G 9: 64,214,885 (GRCm39) F895L possibly damaging Het
Dnah1 G T 14: 31,007,980 (GRCm39) D2142E possibly damaging Het
Dst T C 1: 34,229,214 (GRCm39) V1944A possibly damaging Het
Eif4a2 C T 16: 22,928,969 (GRCm39) probably benign Het
Ephb6 T A 6: 41,593,415 (GRCm39) M487K probably benign Het
Fgf18 T G 11: 33,084,272 (GRCm39) T61P probably damaging Het
G6pc2 A G 2: 69,056,927 (GRCm39) E191G probably damaging Het
Gm10717 C T 9: 3,026,318 (GRCm39) S55L probably benign Het
Gm5414 A G 15: 101,534,246 (GRCm39) F286S probably damaging Het
Gpcpd1 G T 2: 132,376,637 (GRCm39) A553E probably damaging Het
Gpr153 A G 4: 152,366,398 (GRCm39) D321G possibly damaging Het
Hecw2 T A 1: 53,871,782 (GRCm39) Q1388L probably null Het
Ighv14-3 A C 12: 114,023,710 (GRCm39) S36A probably damaging Het
Inpp5j C A 11: 3,444,766 (GRCm39) G969V probably damaging Het
Kat5 G A 19: 5,657,590 (GRCm39) R307W probably damaging Het
Klk1b21 A G 7: 43,754,989 (GRCm39) S95G probably damaging Het
Mdm1 G A 10: 117,986,694 (GRCm39) V171I possibly damaging Het
Nfu1 TCGC T 6: 86,993,188 (GRCm39) probably benign Het
Or5k8 C T 16: 58,644,706 (GRCm39) R122H probably benign Het
Or6c206 G A 10: 129,096,901 (GRCm39) V24M probably benign Het
Phkb T A 8: 86,569,677 (GRCm39) probably benign Het
Pkd1l3 A T 8: 110,350,351 (GRCm39) T399S possibly damaging Het
Prr14l A T 5: 33,001,852 (GRCm39) probably benign Het
Psg21 A C 7: 18,388,939 (GRCm39) L51R probably damaging Het
Ptprg T A 14: 12,153,857 (GRCm38) I526N probably damaging Het
Rab1a T C 11: 20,151,626 (GRCm39) probably benign Het
Rims2 A T 15: 39,342,011 (GRCm39) Q620L probably damaging Het
Rnf215 T G 11: 4,085,453 (GRCm39) S58A probably benign Het
Scaper A C 9: 55,771,791 (GRCm39) V375G probably benign Het
Sgk3 A T 1: 9,872,520 (GRCm39) probably benign Het
Skic2 T C 17: 35,066,408 (GRCm39) K192E probably benign Het
Slc34a3 T A 2: 25,123,312 (GRCm39) probably null Het
Sspn T A 6: 145,906,952 (GRCm39) C52S probably damaging Het
Strip1 T C 3: 107,534,142 (GRCm39) E164G possibly damaging Het
Sult5a1 A C 8: 123,884,181 (GRCm39) S47A probably damaging Het
Svep1 T C 4: 58,091,964 (GRCm39) D1557G possibly damaging Het
Tdrd6 T C 17: 43,940,224 (GRCm39) I275V probably damaging Het
Thada C T 17: 84,499,411 (GRCm39) V1929I probably benign Het
Tmem132b G A 5: 125,700,416 (GRCm39) R318Q probably damaging Het
Tmem176b T G 6: 48,811,004 (GRCm39) I259L probably benign Het
Tmppe C A 9: 114,234,964 (GRCm39) P421Q possibly damaging Het
Tmprss11e G A 5: 86,857,315 (GRCm39) Q333* probably null Het
Tpcn2 T A 7: 144,821,071 (GRCm39) R328W possibly damaging Het
Trem1 C T 17: 48,544,083 (GRCm39) T36I probably damaging Het
Trpm2 C A 10: 77,767,973 (GRCm39) R842L probably damaging Het
Zfp319 A G 8: 96,052,199 (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
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
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'- CAGCGAGTAATTCCGGCATC -3'
(R):5'- TTTTCCCAGGTATGAGAGATGAGTG -3'

Sequencing Primer
(F):5'- AGTCTTTAAATCTGTCCGGCAG -3'
(R):5'- GTGGGGCGTCGAAGAGTC -3'
Posted On 2016-11-08