Incidental Mutation 'R7441:B3galnt2'
ID 576973
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 045517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 14129059-14173688 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14169070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 368 (V368M)
Ref Sequence ENSEMBL: ENSMUSP00000097336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000099747] [ENSMUST00000159893] [ENSMUST00000162326] [ENSMUST00000220681] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000222110] [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: V368M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: V368M

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 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 probably benign
Transcript: ENSMUST00000220681
AA Change: V149M

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000221300
AA Change: V368M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000221333
Predicted Effect probably benign
Transcript: ENSMUST00000221974
AA Change: V368M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000222110
Predicted Effect probably benign
Transcript: ENSMUST00000222420
Predicted Effect probably benign
Transcript: ENSMUST00000223483
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null 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
R5435:B3galnt2 UTSW 13 14,171,575 (GRCm39) missense probably benign 0.01
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
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'- TTCTGTGTGTAGGGTAAGACAC -3'
(R):5'- AGCCACATCTTTGACTCCTG -3'

Sequencing Primer
(F):5'- CACTGAAGGTGCACAGCTGTAC -3'
(R):5'- ACAAAATTCCCTCAGATTACAGTG -3'
Posted On 2019-10-07