Incidental Mutation 'R5369:B3galnt2'
ID 429565
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 042946-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5369 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14129059-14173688 bp(+) (GRCm39)
Type of Mutation splice site (3527 bp from exon)
DNA Base Change (assembly) T to C at 14169010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000099747] [ENSMUST00000159893] [ENSMUST00000162326] [ENSMUST00000221974] [ENSMUST00000221300] [ENSMUST00000220681] [ENSMUST00000222110] [ENSMUST00000223483]
AlphaFold Q8BG28
PDB Structure Solution structure of the C-terminal ubiquitin-like domain of mouse tubulin-specific chaperone e [SOLUTION NMR]
Predicted Effect probably null
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 possibly damaging
Transcript: ENSMUST00000099747
AA Change: S348P

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: S348P

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 possibly damaging
Transcript: ENSMUST00000221974
AA Change: S348P

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221300
AA Change: S348P

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000220681
AA Change: S129P

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000222420
Predicted Effect probably benign
Transcript: ENSMUST00000222110
Predicted Effect probably benign
Transcript: ENSMUST00000223483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220932
Predicted Effect probably benign
Transcript: ENSMUST00000221333
Meta Mutation Damage Score 0.1053 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V probably 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
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
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'- CTGTGATTCCAGTTGATGAAGTGAG -3'
(R):5'- GCCACATCTTTGACTCCTGG -3'

Sequencing Primer
(F):5'- TTCCAGTTGATGAAGTGAGGACCAAG -3'
(R):5'- ACAAAATTCCCTCAGATTACAGTG -3'
Posted On 2016-09-06