Incidental Mutation 'R2200:B3gat2'
ID 238583
Institutional Source Beutler Lab
Gene Symbol B3gat2
Ensembl Gene ENSMUSG00000026156
Gene Name beta-1,3-glucuronyltransferase 2
Synonyms GlcAT-S
MMRRC Submission 040202-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R2200 (G1)
Quality Score 186
Status Not validated
Chromosome 1
Chromosomal Location 23801007-23886946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23801873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 53 (P53L)
Ref Sequence ENSEMBL: ENSMUSP00000117089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063663] [ENSMUST00000140583] [ENSMUST00000144602]
AlphaFold P59270
Predicted Effect probably benign
Transcript: ENSMUST00000063663
AA Change: P53L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000066582
Gene: ENSMUSG00000026156
AA Change: P53L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Glyco_transf_43 102 305 1.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140583
AA Change: P53L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117089
Gene: ENSMUSG00000026156
AA Change: P53L

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

DomainStartEndE-ValueType
Pfam:Glyco_transf_43 1 56 1.4e-19 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 T C 17: 57,265,423 (GRCm39) I135M probably benign Het
Ano7 A G 1: 93,308,158 (GRCm39) E63G possibly damaging Het
Asah1 A G 8: 41,796,765 (GRCm39) probably null Het
Bmp8b A T 4: 123,016,815 (GRCm39) M339L possibly damaging Het
Bpifb9b C A 2: 154,155,574 (GRCm39) Q358K probably benign Het
Cbs T C 17: 31,843,238 (GRCm39) D231G probably damaging Het
Chd6 A G 2: 160,825,673 (GRCm39) Y1144H probably damaging Het
Clca3a2 T A 3: 144,519,685 (GRCm39) I230L probably benign Het
Clec2d A T 6: 129,161,831 (GRCm39) T155S possibly damaging Het
Cpxm1 G T 2: 130,235,117 (GRCm39) F567L probably damaging Het
Cyp4f16 G T 17: 32,756,078 (GRCm39) A36S probably damaging Het
Dnah17 T C 11: 117,993,235 (GRCm39) probably benign Het
Eml5 T C 12: 98,791,676 (GRCm39) D1280G probably damaging Het
Ergic1 C A 17: 26,860,566 (GRCm39) A218D possibly damaging Het
Eva1a A G 6: 82,068,894 (GRCm39) R74G probably benign Het
Fhip1a A G 3: 85,637,628 (GRCm39) S224P probably damaging Het
Fus T A 7: 127,576,400 (GRCm39) N273K probably damaging Het
Ipo13 A C 4: 117,762,100 (GRCm39) probably null Het
Itgb3 T A 11: 104,531,812 (GRCm39) probably null Het
Lrif1 T A 3: 106,641,874 (GRCm39) S63R probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Lrp1b A T 2: 41,174,177 (GRCm39) N1547K probably benign Het
Mme A T 3: 63,287,713 (GRCm39) N738I possibly damaging Het
Morc2a A G 11: 3,633,919 (GRCm39) N677S probably benign Het
Mrpl35 A C 6: 71,794,723 (GRCm39) L82V probably benign Het
Mybpc1 A T 10: 88,391,557 (GRCm39) N313K probably damaging Het
Podn T C 4: 107,879,787 (GRCm39) D66G probably damaging Het
Ptpru A T 4: 131,548,124 (GRCm39) N52K probably damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Qser1 A G 2: 104,619,358 (GRCm39) S485P probably damaging Het
Rbm46 A T 3: 82,771,351 (GRCm39) D421E probably benign Het
Rgs10 T C 7: 127,990,761 (GRCm39) E109G probably damaging Het
Samd8 C T 14: 21,825,388 (GRCm39) P178S probably benign Het
Scaf11 T C 15: 96,318,404 (GRCm39) K387E probably damaging Het
Sccpdh G T 1: 179,498,171 (GRCm39) V72F possibly damaging Het
Sec22a A T 16: 35,134,527 (GRCm39) V285E probably damaging Het
Slc19a3 A G 1: 83,000,664 (GRCm39) S118P probably damaging Het
Sun1 C A 5: 139,216,974 (GRCm39) R338S probably benign Het
Taf1c A G 8: 120,325,417 (GRCm39) F815S probably benign Het
Zcchc14 A T 8: 122,332,167 (GRCm39) probably benign 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
R5860:B3gat2 UTSW 1 23,854,400 (GRCm39) nonsense probably null
R6271:B3gat2 UTSW 1 23,854,342 (GRCm39) missense probably damaging 1.00
R6312:B3gat2 UTSW 1 23,854,548 (GRCm39) nonsense probably null
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'- TTCTCCCTGATTGCAGACG -3'
(R):5'- TCTGATGCTGATGCCTCTGG -3'

Sequencing Primer
(F):5'- TACCCGGAGCCTAGTCCTTG -3'
(R):5'- AGGATCCAGTGCAACTGC -3'
Posted On 2014-10-02