Incidental Mutation 'R6312:B3gat2'
ID 509791
Institutional Source Beutler Lab
Gene Symbol B3gat2
Ensembl Gene ENSMUSG00000026156
Gene Name beta-1,3-glucuronyltransferase 2
Synonyms GlcAT-S
MMRRC Submission 044415-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R6312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 23801007-23886946 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 23854548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 83 (E83*)
Ref Sequence ENSEMBL: ENSMUSP00000115870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063663] [ENSMUST00000140583] [ENSMUST00000144602]
AlphaFold P59270
Predicted Effect probably benign
Transcript: ENSMUST00000063663
SMART Domains Protein: ENSMUSP00000066582
Gene: ENSMUSG00000026156

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Glyco_transf_43 102 305 1.1e-73 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000140583
AA Change: E281*
SMART Domains Protein: ENSMUSP00000117089
Gene: ENSMUSG00000026156
AA Change: E281*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Glyco_transf_43 102 253 3.3e-59 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000144602
AA Change: E83*
SMART Domains Protein: ENSMUSP00000115870
Gene: ENSMUSG00000026156
AA Change: E83*

DomainStartEndE-ValueType
Pfam:Glyco_transf_43 1 56 1.4e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,936,541 (GRCm39) S472P possibly damaging Het
Aadacl4fm1 A T 4: 144,255,072 (GRCm39) H164L probably benign Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
AC153874.1 T A 10: 77,682,961 (GRCm39) probably benign Het
Acadvl T A 11: 69,902,593 (GRCm39) M375L probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arl4d T C 11: 101,558,079 (GRCm39) *202R probably null Het
Bmper C A 9: 23,318,087 (GRCm39) Q569K possibly damaging Het
C2cd4d C A 3: 94,271,742 (GRCm39) P336H probably damaging Het
Cct2 A T 10: 116,891,960 (GRCm39) S363T probably benign Het
Cers5 A G 15: 99,644,996 (GRCm39) V119A probably benign Het
Cfhr2 C T 1: 139,758,817 (GRCm39) V78I possibly damaging Het
Crocc2 A T 1: 93,143,432 (GRCm39) K1345* probably null Het
Cyp4f39 T C 17: 32,702,268 (GRCm39) M255T probably benign Het
Dpp6 A T 5: 27,930,669 (GRCm39) I834F possibly damaging Het
Dpy19l4 T A 4: 11,289,671 (GRCm39) K205* probably null Het
Epg5 T A 18: 78,022,426 (GRCm39) D1056E possibly damaging Het
Fam20a A C 11: 109,565,456 (GRCm39) C452G probably damaging Het
Gnai2 A T 9: 107,512,316 (GRCm39) V34E probably damaging Het
Gng3 A G 19: 8,815,997 (GRCm39) V7A probably benign Het
Hdc A G 2: 126,449,326 (GRCm39) V77A possibly damaging Het
Hint1 G A 11: 54,760,816 (GRCm39) C85Y probably benign Het
Kif17 C T 4: 138,015,504 (GRCm39) S551L probably benign Het
Lgr5 A G 10: 115,288,829 (GRCm39) L581P probably damaging Het
Lig4 G T 8: 10,021,739 (GRCm39) N680K probably benign Het
Lipi T A 16: 75,370,803 (GRCm39) Y138F probably damaging Het
Lrp2 C T 2: 69,267,025 (GRCm39) G4294E probably damaging Het
Lrrc7 A G 3: 157,866,246 (GRCm39) M1165T probably benign Het
Mtpap T C 18: 4,396,175 (GRCm39) I489T possibly damaging Het
Nlrp1b T A 11: 71,119,223 (GRCm39) N24I probably benign Het
Nlrp4a A G 7: 26,148,821 (GRCm39) T143A probably benign Het
Nudt2 A G 4: 41,480,386 (GRCm39) T90A probably benign Het
Or1j20 A T 2: 36,760,477 (GRCm39) I300L probably benign Het
Or52n20 T A 7: 104,320,796 (GRCm39) Y296N probably damaging Het
Or8b36 GTTT GTTTGCTGTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TTT TTTGCTGATT 9: 37,937,843 (GRCm39) probably null Het
Or8b36 T TGCTGTTC 9: 37,937,845 (GRCm39) probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Or8k53 A T 2: 86,177,925 (GRCm39) F62I probably damaging Het
Osmr A G 15: 6,853,119 (GRCm39) V592A probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rusf1 T C 7: 127,872,715 (GRCm39) K411R probably benign Het
Slc6a7 A G 18: 61,135,457 (GRCm39) S381P probably benign Het
Slitrk6 A G 14: 110,987,679 (GRCm39) L676P probably benign Het
Sspo T C 6: 48,434,300 (GRCm39) probably null Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Homo
Tma16 T C 8: 66,934,118 (GRCm39) E79G probably damaging Het
Trim14 G T 4: 46,507,257 (GRCm39) H320N probably damaging Het
Trim63 A G 4: 134,053,008 (GRCm39) D323G probably damaging Het
Vash2 C A 1: 190,690,880 (GRCm39) R309L probably benign Het
Vmn1r62 G A 7: 5,679,083 (GRCm39) V255M possibly damaging Het
Vmn2r53 T A 7: 12,332,566 (GRCm39) probably null Het
Zfp382 G A 7: 29,833,963 (GRCm39) R538H probably damaging Het
Zfp592 T A 7: 80,673,184 (GRCm39) D49E probably benign Het
Zfp60 T C 7: 27,448,201 (GRCm39) C290R probably damaging Het
Zfp69 G A 4: 120,806,714 (GRCm39) probably benign Het
Zfp790 G T 7: 29,527,647 (GRCm39) G111W probably damaging Het
Zfp948 T C 17: 21,807,429 (GRCm39) I207T possibly damaging Het
Other mutations in B3gat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:B3gat2 APN 1 23,802,301 (GRCm39) missense probably damaging 1.00
IGL01918:B3gat2 APN 1 23,884,209 (GRCm39) nonsense probably null
IGL02797:B3gat2 APN 1 23,854,360 (GRCm39) missense probably damaging 1.00
IGL03100:B3gat2 APN 1 23,802,272 (GRCm39) missense probably damaging 1.00
R2200:B3gat2 UTSW 1 23,801,873 (GRCm39) missense probably benign 0.03
R5860:B3gat2 UTSW 1 23,854,400 (GRCm39) nonsense probably null
R6271:B3gat2 UTSW 1 23,854,342 (GRCm39) missense probably damaging 1.00
R7185:B3gat2 UTSW 1 23,802,272 (GRCm39) missense probably damaging 1.00
R7751:B3gat2 UTSW 1 23,801,945 (GRCm39) missense probably benign
R8117:B3gat2 UTSW 1 23,884,061 (GRCm39) missense probably benign 0.15
R8961:B3gat2 UTSW 1 23,801,900 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACGCTATGAACGTCCGTTG -3'
(R):5'- ATATCAGCTTCCTAGACAGAGGCAC -3'

Sequencing Primer
(F):5'- TGGTGAGCAGAATGCATG -3'
(R):5'- GGCACCAAAAGGTTTTAGCTAATAG -3'
Posted On 2018-04-02