Incidental Mutation 'R9593:B3galt2'
ID 723075
Institutional Source Beutler Lab
Gene Symbol B3galt2
Ensembl Gene ENSMUSG00000033849
Gene Name UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R9593 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 143516435-143525675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143522604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 247 (Y247N)
Ref Sequence ENSEMBL: ENSMUSP00000046118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018337] [ENSMUST00000038252]
AlphaFold O54905
Predicted Effect probably benign
Transcript: ENSMUST00000018337
SMART Domains Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361

DomainStartEndE-ValueType
Pfam:CDC73_N 1 297 3.4e-135 PFAM
Pfam:CDC73_C 356 521 2.6e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000038252
AA Change: Y247N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046118
Gene: ENSMUSG00000033849
AA Change: Y247N

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Galactosyl_T 165 359 3.8e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted mutation display hyperactivity, impaired motor coordination, decreased anxiety, increased startle reflexes, and decreased coping response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T A 1: 192,857,087 (GRCm39) D146E probably benign Het
Acaca C T 11: 84,271,339 (GRCm39) Q2058* probably null Het
Adam39 T A 8: 41,279,744 (GRCm39) C712S possibly damaging Het
Aipl1 T C 11: 71,921,161 (GRCm39) E219G probably benign Het
Ankrd24 A G 10: 81,475,898 (GRCm39) R301G unknown Het
Arhgef17 A G 7: 100,532,009 (GRCm39) F272L probably damaging Het
Bltp1 T C 3: 37,002,090 (GRCm39) V1345A probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cat T C 2: 103,285,433 (GRCm39) E503G probably benign Het
Cemip2 T C 19: 21,803,453 (GRCm39) S829P probably damaging Het
Coro1b T A 19: 4,199,497 (GRCm39) V52E probably damaging Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dip2c T A 13: 9,704,683 (GRCm39) M1344K possibly damaging Het
Dnah5 A G 15: 28,236,774 (GRCm39) I367V probably benign Het
Dock2 T C 11: 34,178,607 (GRCm39) T1807A probably benign Het
Dusp10 T A 1: 183,806,643 (GRCm39) F459I probably damaging Het
Elac1 A T 18: 73,872,089 (GRCm39) L302Q probably benign Het
Entrep3 T A 3: 89,091,199 (GRCm39) S57T probably benign Het
Fdx2 A T 9: 20,979,097 (GRCm39) Y165N probably damaging Het
Gabra2 C T 5: 71,165,353 (GRCm39) V206I possibly damaging Het
Gabrg1 T C 5: 70,939,808 (GRCm39) E108G probably damaging Het
Gm29394 A G 15: 57,932,722 (GRCm39) L5P probably benign Het
Gnb1l C T 16: 18,362,914 (GRCm39) P101S probably benign Het
Hectd4 C A 5: 121,424,844 (GRCm39) S749* probably null Het
Hmcn2 A G 2: 31,244,742 (GRCm39) Y733C probably damaging Het
Inafm1 G A 7: 16,007,059 (GRCm39) L53F probably damaging Het
Iqgap3 G A 3: 88,011,657 (GRCm39) R814H probably damaging Het
Map3k19 A G 1: 127,778,163 (GRCm39) C21R probably benign Het
Maz A G 7: 126,624,924 (GRCm39) F199L probably damaging Het
Mis18bp1 A G 12: 65,187,628 (GRCm39) I825T probably damaging Het
Mpp3 T A 11: 101,907,506 (GRCm39) T211S possibly damaging Het
Mtrf1 T C 14: 79,656,664 (GRCm39) Y389H probably damaging Het
Myo3b G A 2: 70,075,648 (GRCm39) G579R probably benign Het
Nlrp4e T C 7: 23,020,197 (GRCm39) V228A probably benign Het
Npepps T A 11: 97,149,179 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,224 (GRCm39) L183P probably damaging Het
Or8c16 A G 9: 38,130,868 (GRCm39) T247A probably benign Het
Pcdha4 A C 18: 37,086,740 (GRCm39) I308L probably benign Het
Pear1 G T 3: 87,658,480 (GRCm39) Q964K probably benign Het
Plekhg2 A T 7: 28,059,710 (GRCm39) D1182E possibly damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Ptpn13 T A 5: 103,674,998 (GRCm39) D658E possibly damaging Het
Ptprq T C 10: 107,524,254 (GRCm39) Y493C possibly damaging Het
Rnd1 A G 15: 98,570,526 (GRCm39) W107R probably damaging Het
Scn5a G A 9: 119,315,839 (GRCm39) T1623M probably damaging Het
Sec23b T C 2: 144,410,564 (GRCm39) I288T probably benign Het
Slfn14 T A 11: 83,174,733 (GRCm39) H86L probably benign Het
Smchd1 G A 17: 71,701,828 (GRCm39) H1055Y probably damaging Het
Sox13 G A 1: 133,316,214 (GRCm39) P243S probably damaging Het
St3gal6 C A 16: 58,305,136 (GRCm39) E109* probably null Het
Traf4 T C 11: 78,056,253 (GRCm39) D5G possibly damaging Het
Trank1 G T 9: 111,191,365 (GRCm39) C458F probably benign Het
Ttc41 T C 10: 86,549,049 (GRCm39) F81S probably benign Het
Tulp1 C T 17: 28,572,802 (GRCm39) W451* probably null Het
Tyms T C 5: 30,269,110 (GRCm39) I171V Het
Vmn2r115 T A 17: 23,578,184 (GRCm39) N552K probably damaging Het
Zfp710 T A 7: 79,730,909 (GRCm39) S29T possibly damaging Het
Other mutations in B3galt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:B3galt2 APN 1 143,522,893 (GRCm39) missense probably damaging 1.00
IGL01019:B3galt2 APN 1 143,522,495 (GRCm39) missense probably benign 0.00
IGL01406:B3galt2 APN 1 143,522,844 (GRCm39) missense possibly damaging 0.91
IGL01736:B3galt2 APN 1 143,522,583 (GRCm39) missense probably benign 0.00
IGL02427:B3galt2 APN 1 143,522,254 (GRCm39) missense probably benign
IGL03289:B3galt2 APN 1 143,523,042 (GRCm39) missense probably damaging 1.00
R0143:B3galt2 UTSW 1 143,523,072 (GRCm39) missense possibly damaging 0.95
R0620:B3galt2 UTSW 1 143,521,878 (GRCm39) missense probably damaging 1.00
R0665:B3galt2 UTSW 1 143,522,191 (GRCm39) missense possibly damaging 0.64
R1765:B3galt2 UTSW 1 143,522,207 (GRCm39) missense probably benign 0.03
R2325:B3galt2 UTSW 1 143,522,926 (GRCm39) missense probably benign 0.01
R3817:B3galt2 UTSW 1 143,522,811 (GRCm39) missense probably damaging 1.00
R5248:B3galt2 UTSW 1 143,522,849 (GRCm39) missense probably benign 0.01
R5863:B3galt2 UTSW 1 143,522,104 (GRCm39) missense probably benign 0.36
R6339:B3galt2 UTSW 1 143,522,640 (GRCm39) missense possibly damaging 0.49
R6419:B3galt2 UTSW 1 143,522,839 (GRCm39) missense possibly damaging 0.48
R7529:B3galt2 UTSW 1 143,522,274 (GRCm39) missense probably benign 0.01
R7577:B3galt2 UTSW 1 143,523,042 (GRCm39) missense probably damaging 1.00
R8966:B3galt2 UTSW 1 143,521,883 (GRCm39) missense probably damaging 1.00
R9421:B3galt2 UTSW 1 143,522,364 (GRCm39) nonsense probably null
R9508:B3galt2 UTSW 1 143,522,280 (GRCm39) missense possibly damaging 0.50
R9743:B3galt2 UTSW 1 143,522,847 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCAATGAAACTTTGGCACC -3'
(R):5'- AGCGCTCACTTGGGTAAAGG -3'

Sequencing Primer
(F):5'- TGGCATCCAAATCATACGGG -3'
(R):5'- AAAGGTCTGGTGGCATGTACC -3'
Posted On 2022-08-09