Incidental Mutation 'R5248:B3galt2'
ID 398610
Institutional Source Beutler Lab
Gene Symbol B3galt2
Ensembl Gene ENSMUSG00000033849
Gene Name UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2
Synonyms
MMRRC Submission 042819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5248 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 143516435-143525675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143522849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 328 (F328L)
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 benign
Transcript: ENSMUST00000038252
AA Change: F328L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000046118
Gene: ENSMUSG00000033849
AA Change: F328L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Galactosyl_T 165 359 3.8e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189597
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,109,437 (GRCm39) E344D probably benign Het
Acoxl G A 2: 127,917,855 (GRCm39) probably null Het
Adora1 A T 1: 134,131,224 (GRCm39) L149Q possibly damaging Het
Aebp1 C A 11: 5,818,501 (GRCm39) D115E possibly damaging Het
Ank3 A G 10: 69,822,938 (GRCm39) I1819V probably benign Het
Ankrd44 T C 1: 54,706,539 (GRCm39) H454R probably damaging Het
Ap4e1 C T 2: 126,906,842 (GRCm39) A1034V possibly damaging Het
Bbip1 G A 19: 53,919,786 (GRCm39) probably benign Het
Brsk1 G A 7: 4,711,865 (GRCm39) E572K possibly damaging Het
Clca3a1 G T 3: 144,442,897 (GRCm39) P716T possibly damaging Het
Clpx T C 9: 65,228,132 (GRCm39) V380A probably damaging Het
Epha3 T A 16: 63,418,620 (GRCm39) Q608H probably damaging Het
Gprc6a G T 10: 51,491,089 (GRCm39) P712T probably damaging Het
Itpr1 C A 6: 108,519,023 (GRCm39) Q2720K probably damaging Het
Kdm5b A G 1: 134,548,735 (GRCm39) E1080G probably benign Het
Macf1 G A 4: 123,295,567 (GRCm39) R3163* probably null Het
Map4k5 T C 12: 69,888,755 (GRCm39) D292G probably benign Het
Mau2 A T 8: 70,481,373 (GRCm39) C217S probably benign Het
Mtf1 T C 4: 124,714,220 (GRCm39) F210L probably damaging Het
Mtif2 G A 11: 29,486,889 (GRCm39) V300M probably damaging Het
Mtmr2 T C 9: 13,694,905 (GRCm39) probably benign Het
Mybpc3 C A 2: 90,955,573 (GRCm39) probably null Het
Ncmap T C 4: 135,107,430 (GRCm39) probably null Het
Nek9 A G 12: 85,355,751 (GRCm39) F672S probably damaging Het
Nuak1 A T 10: 84,245,542 (GRCm39) I101N probably damaging Het
Or8s16 T C 15: 98,211,311 (GRCm39) N40S probably damaging Het
Pcdh7 T A 5: 58,286,515 (GRCm39) M1197K probably damaging Het
Pcdhb17 A C 18: 37,618,939 (GRCm39) Q243P probably benign Het
Pcf11 T G 7: 92,310,699 (GRCm39) K221Q probably damaging Het
Pkhd1 C T 1: 20,604,769 (GRCm39) R1182H probably benign Het
Ptprz1 C A 6: 23,001,900 (GRCm39) P1330Q probably benign Het
Rbm33 T G 5: 28,542,050 (GRCm39) probably null Het
Rhobtb1 A G 10: 69,084,615 (GRCm39) D2G probably damaging Het
Rngtt T A 4: 33,325,110 (GRCm39) C110* probably null Het
Setx T A 2: 29,038,430 (GRCm39) N1638K probably benign Het
Slc24a3 A T 2: 145,446,437 (GRCm39) M282L probably benign Het
Slc7a1 A T 5: 148,270,798 (GRCm39) V556D possibly damaging Het
Sppl2c A T 11: 104,077,407 (GRCm39) D69V possibly damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Tas2r120 A T 6: 132,634,110 (GRCm39) N64I probably damaging Het
Tcf25 G T 8: 124,100,678 (GRCm39) A23S probably damaging Het
Tigd2 A T 6: 59,188,138 (GRCm39) K335I probably damaging Het
Tlr6 A G 5: 65,112,647 (GRCm39) S87P probably benign Het
Tmem135 T A 7: 88,797,200 (GRCm39) Y352F probably damaging Het
Tob2 T C 15: 81,735,918 (GRCm39) Y17C probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn1r179 T C 7: 23,628,478 (GRCm39) V223A probably damaging Het
Zfp946 T C 17: 22,673,447 (GRCm39) V67A probably benign Het
Zswim4 G T 8: 84,946,561 (GRCm39) N698K probably benign Het
Zzz3 A G 3: 152,133,182 (GRCm39) Q80R probably 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
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
R9593:B3galt2 UTSW 1 143,522,604 (GRCm39) missense probably damaging 1.00
R9743:B3galt2 UTSW 1 143,522,847 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTACTAAAGCCAGACCTGCC -3'
(R):5'- TTTGCGGTGTCGATACCTGC -3'

Sequencing Primer
(F):5'- CTCCTAGACATAACTATTTTACTGGC -3'
(R):5'- ATCAGTTCACTAGGTTGGAACTG -3'
Posted On 2016-07-06