Incidental Mutation 'R5435:B3galnt2'
ID 428283
Institutional Source Beutler Lab
Gene Symbol B3galnt2
Ensembl Gene ENSMUSG00000039242
Gene Name UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
Synonyms D230016N13Rik, A930105D20Rik
MMRRC Submission 043000-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5435 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14129059-14173688 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14171575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 491 (E491G)
Ref Sequence ENSEMBL: ENSMUSP00000152397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000099747] [ENSMUST00000159893] [ENSMUST00000162326] [ENSMUST00000221974] [ENSMUST00000221300] [ENSMUST00000220681] [ENSMUST00000223483]
AlphaFold Q8BG28
Predicted Effect probably benign
Transcript: ENSMUST00000039894
SMART Domains Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233

DomainStartEndE-ValueType
CAP_GLY 10 76 5.23e-32 SMART
SCOP:d1fqva2 117 345 4e-20 SMART
low complexity region 347 360 N/A INTRINSIC
Pfam:Ubiquitin_2 442 523 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099747
AA Change: E491G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: E491G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Galactosyl_T 300 460 2.9e-26 PFAM
low complexity region 481 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159893
SMART Domains Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233

DomainStartEndE-ValueType
SCOP:d1lpla_ 9 35 3e-5 SMART
Blast:CAP_GLY 10 34 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160553
Predicted Effect probably benign
Transcript: ENSMUST00000162326
SMART Domains Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233

DomainStartEndE-ValueType
CAP_GLY 10 76 5.23e-32 SMART
SCOP:d1fqva2 117 345 4e-21 SMART
low complexity region 347 360 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000222420
AA Change: E92G
Predicted Effect probably benign
Transcript: ENSMUST00000221974
AA Change: E491G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000221300
AA Change: E491G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000220681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220932
Predicted Effect probably benign
Transcript: ENSMUST00000223483
Meta Mutation Damage Score 0.1949 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (74/74)
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 glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,413 (GRCm39) F851L probably benign Het
Abca17 C T 17: 24,486,588 (GRCm39) V1480I possibly damaging Het
Acsbg1 G T 9: 54,523,153 (GRCm39) Y491* probably null Het
Acsf3 T A 8: 123,507,020 (GRCm39) N104K probably damaging Het
Adam23 T C 1: 63,585,612 (GRCm39) Y400H possibly damaging Het
Adgra3 G A 5: 50,147,468 (GRCm39) T524M probably damaging Het
Aff1 G A 5: 103,902,198 (GRCm39) probably benign Het
Anxa9 T C 3: 95,204,561 (GRCm39) Y321C probably damaging Het
Ap1g1 T A 8: 110,565,552 (GRCm39) Y329N probably damaging Het
Aph1c A T 9: 66,741,783 (GRCm39) I33N possibly damaging Het
Bdh1 C T 16: 31,275,475 (GRCm39) R235C probably damaging Het
Ccar2 A G 14: 70,376,776 (GRCm39) L856P probably damaging Het
Ccdc107 A T 4: 43,493,519 (GRCm39) D30V probably damaging Het
Ccdc116 G T 16: 16,960,626 (GRCm39) H64N probably benign Het
Ccl12 T C 11: 81,994,001 (GRCm39) I86T possibly damaging Het
Col2a1 T C 15: 97,898,391 (GRCm39) probably benign Het
Col4a4 T A 1: 82,431,728 (GRCm39) I1519F unknown Het
Ddx19b T C 8: 111,735,458 (GRCm39) Q416R possibly damaging Het
Dnah6 T A 6: 73,037,121 (GRCm39) M3374L probably benign Het
Dnajc6 A T 4: 101,463,807 (GRCm39) I119F probably damaging Het
Ensa C A 3: 95,529,769 (GRCm39) probably benign Het
Fbxo4 C T 15: 3,995,274 (GRCm39) V357I possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxf1 G A 8: 121,811,231 (GRCm39) G32S probably damaging Het
Gls2 G A 10: 128,030,995 (GRCm39) probably benign Het
Gm13599 T A 2: 67,226,496 (GRCm39) noncoding transcript Het
Gmnn A G 13: 24,936,084 (GRCm39) S197P probably benign Het
Guf1 A T 5: 69,720,512 (GRCm39) H324L probably benign Het
H2-Q6 A G 17: 35,644,661 (GRCm39) D150G probably damaging Het
Herc3 T A 6: 58,832,791 (GRCm39) L152Q probably damaging Het
Hnrnpul2 T G 19: 8,797,682 (GRCm39) S13A probably benign Het
Ighv5-4 A G 12: 113,561,283 (GRCm39) F46L probably benign Het
Kank1 T G 19: 25,388,507 (GRCm39) S727A probably benign Het
Kcnma1 A T 14: 23,578,472 (GRCm39) Y201* probably null Het
Lyst A T 13: 13,951,649 (GRCm39) H3750L possibly damaging Het
Mettl25 A G 10: 105,615,447 (GRCm39) probably null Het
Mpdz A G 4: 81,201,724 (GRCm39) probably benign Het
Myh9 C T 15: 77,653,809 (GRCm39) V1280I probably benign Het
Neto1 A T 18: 86,416,388 (GRCm39) T32S probably benign Het
Nol7 C A 13: 43,554,848 (GRCm39) H187Q possibly damaging Het
Or5ak22 T A 2: 85,230,814 (GRCm39) N21I probably benign Het
Pcdha8 A G 18: 37,126,652 (GRCm39) D378G probably damaging Het
Peak1 A G 9: 56,113,770 (GRCm39) S694P probably damaging Het
Pih1d1 T A 7: 44,805,696 (GRCm39) probably null Het
Pik3c2g T G 6: 139,661,581 (GRCm39) probably null Het
Prkar2a A G 9: 108,617,682 (GRCm39) R247G probably damaging Het
Psg26 A G 7: 18,212,398 (GRCm39) I319T possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rasa3 T C 8: 13,681,811 (GRCm39) E46G possibly damaging Het
Rbbp5 T A 1: 132,422,013 (GRCm39) H304Q probably damaging Het
Relch T A 1: 105,668,975 (GRCm39) probably benign Het
Scn1a T A 2: 66,103,878 (GRCm39) E1783V probably damaging Het
Stag1 A G 9: 100,835,603 (GRCm39) N151S probably benign Het
Tbc1d32 C A 10: 55,916,246 (GRCm39) A1191S probably damaging Het
Tchh C A 3: 93,350,979 (GRCm39) R140S possibly damaging Het
Trank1 A G 9: 111,220,958 (GRCm39) Y2565C probably benign Het
Ttn A T 2: 76,744,702 (GRCm39) V5449D probably damaging Het
Tubgcp2 G A 7: 139,575,985 (GRCm39) P893S possibly damaging Het
Wdfy4 A G 14: 32,742,268 (GRCm39) F2325S probably damaging Het
Wdr35 A G 12: 9,039,951 (GRCm39) D352G probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Ypel3 A G 7: 126,374,960 (GRCm39) probably benign Het
Zan T A 5: 137,402,024 (GRCm39) T4023S unknown Het
Zfp735 T A 11: 73,602,939 (GRCm39) C628S possibly damaging Het
Other mutations in B3galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:B3galnt2 APN 13 14,162,016 (GRCm39) missense probably benign 0.15
IGL01149:B3galnt2 APN 13 14,155,270 (GRCm39) missense probably benign 0.07
IGL01814:B3galnt2 APN 13 14,161,938 (GRCm39) missense probably damaging 1.00
IGL02383:B3galnt2 APN 13 14,171,618 (GRCm39) makesense probably null
R0106:B3galnt2 UTSW 13 14,170,378 (GRCm39) missense probably benign
R0349:B3galnt2 UTSW 13 14,166,059 (GRCm39) missense probably benign
R0676:B3galnt2 UTSW 13 14,170,378 (GRCm39) missense probably benign
R1522:B3galnt2 UTSW 13 14,145,354 (GRCm39) missense probably damaging 1.00
R1830:B3galnt2 UTSW 13 14,166,119 (GRCm39) nonsense probably null
R2035:B3galnt2 UTSW 13 14,140,909 (GRCm39) missense probably benign 0.10
R3686:B3galnt2 UTSW 13 14,150,220 (GRCm39) critical splice donor site probably null
R3954:B3galnt2 UTSW 13 14,141,039 (GRCm39) missense probably benign 0.04
R5369:B3galnt2 UTSW 13 14,169,010 (GRCm39) splice site probably null
R5564:B3galnt2 UTSW 13 14,169,814 (GRCm39) missense probably damaging 1.00
R5628:B3galnt2 UTSW 13 14,169,737 (GRCm39) splice site probably null
R6118:B3galnt2 UTSW 13 14,166,094 (GRCm39) missense probably damaging 0.96
R6396:B3galnt2 UTSW 13 14,170,333 (GRCm39) missense probably damaging 1.00
R6529:B3galnt2 UTSW 13 14,170,377 (GRCm39) missense probably benign 0.00
R6656:B3galnt2 UTSW 13 14,150,161 (GRCm39) missense probably benign 0.00
R7345:B3galnt2 UTSW 13 14,155,065 (GRCm39) splice site probably null
R7439:B3galnt2 UTSW 13 14,169,070 (GRCm39) missense probably benign 0.34
R7441:B3galnt2 UTSW 13 14,169,070 (GRCm39) missense probably benign 0.34
R7582:B3galnt2 UTSW 13 14,165,986 (GRCm39) missense probably damaging 1.00
R7849:B3galnt2 UTSW 13 14,169,077 (GRCm39) missense probably benign 0.15
R8135:B3galnt2 UTSW 13 14,145,454 (GRCm39) critical splice donor site probably null
R9216:B3galnt2 UTSW 13 14,165,423 (GRCm39) missense probably benign 0.08
R9229:B3galnt2 UTSW 13 14,166,107 (GRCm39) missense probably damaging 1.00
R9350:B3galnt2 UTSW 13 14,170,393 (GRCm39) missense probably damaging 1.00
R9422:B3galnt2 UTSW 13 14,150,136 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- GGTAGAGTACATTTAGGTGTCCTTC -3'
(R):5'- CCTGCTGGAGATTCAAATGGAG -3'

Sequencing Primer
(F):5'- GAGTACATTTAGGTGTCCTTCCTATC -3'
(R):5'- AATGGAGTTATTTTCTGAATTTGGCC -3'
Posted On 2016-09-01