Incidental Mutation 'R4388:Galnt2'
ID 326309
Institutional Source Beutler Lab
Gene Symbol Galnt2
Ensembl Gene ENSMUSG00000089704
Gene Name polypeptide N-acetylgalactosaminyltransferase 2
Synonyms ppGaNTase-T2
MMRRC Submission 041125-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R4388 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 124958133-125072461 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 125022192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034458] [ENSMUST00000127664] [ENSMUST00000127664]
AlphaFold Q6PB93
Predicted Effect probably null
Transcript: ENSMUST00000034458
SMART Domains Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 25 39 N/A INTRINSIC
Pfam:Glycos_transf_2 138 321 8.3e-31 PFAM
Pfam:Glyco_transf_7C 295 365 5.4e-8 PFAM
RICIN 440 565 9.28e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147911
Meta Mutation Damage Score 0.9500 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 86% (31/36)
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 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Allele List at MGI

None

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,464,693 (GRCm39) probably null Het
Adgrv1 T C 13: 81,729,828 (GRCm39) T218A probably damaging Het
Aldh1l2 T C 10: 83,349,486 (GRCm39) D254G probably damaging Het
Arpc4 A G 6: 113,362,458 (GRCm39) D36G probably damaging Het
Cd209b A G 8: 3,975,960 (GRCm39) L67P probably damaging Het
Cldn20 G A 17: 3,583,485 (GRCm39) M219I probably benign Het
Dmxl2 G A 9: 54,303,551 (GRCm39) P2308S probably damaging Het
Fancd2 A G 6: 113,533,329 (GRCm39) I549V probably damaging Het
Galnt9 A G 5: 110,736,257 (GRCm39) D191G probably damaging Het
Hgf T A 5: 16,819,941 (GRCm39) H557Q probably benign Het
Ifna12 T C 4: 88,521,346 (GRCm39) D67G probably benign Het
Igf1r A G 7: 67,819,757 (GRCm39) I356V probably benign Het
Itih1 A G 14: 30,663,512 (GRCm39) V164A possibly damaging Het
Kcnc1 C A 7: 46,047,126 (GRCm39) R9S possibly damaging Het
Kmt2b A C 7: 30,288,015 (GRCm39) probably benign Het
Kmt2d C T 15: 98,751,507 (GRCm39) probably benign Het
Kng1 T A 16: 22,898,068 (GRCm39) H489Q possibly damaging Het
Larp7-ps A T 4: 92,079,351 (GRCm39) S157T probably benign Het
Map4k5 C A 12: 69,892,583 (GRCm39) M115I probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Naca T C 10: 127,880,661 (GRCm39) S1898P probably damaging Het
Nlrp4e A G 7: 23,000,902 (GRCm39) K66E probably benign Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Pex26 A G 6: 121,161,351 (GRCm39) D43G probably damaging Het
Prr14l A G 5: 32,986,598 (GRCm39) S966P probably damaging Het
Recql4 A G 15: 76,590,158 (GRCm39) S659P probably benign Het
Serpina3n C A 12: 104,377,616 (GRCm39) Q290K probably benign Het
Sft2d1 A G 17: 8,539,469 (GRCm39) K91E possibly damaging Het
Slc25a16 T C 10: 62,764,105 (GRCm39) V54A probably benign Het
Svep1 A G 4: 58,069,249 (GRCm39) Y2846H possibly damaging Het
Ttll2 T A 17: 7,618,599 (GRCm39) R443* probably null Het
Uty A G Y: 1,151,956 (GRCm39) S795P possibly damaging Het
Xrcc5 T A 1: 72,369,189 (GRCm39) S348T possibly damaging Het
Other mutations in Galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Galnt2 APN 8 125,032,245 (GRCm39) splice site probably benign
IGL02638:Galnt2 APN 8 124,958,318 (GRCm39) missense probably damaging 0.98
chivalry UTSW 8 125,061,025 (GRCm39) nonsense probably null
feudal UTSW 8 125,058,837 (GRCm39) critical splice donor site probably null
gallantry UTSW 8 125,067,561 (GRCm39) missense probably damaging 1.00
valor UTSW 8 125,056,527 (GRCm39) missense probably damaging 1.00
P0018:Galnt2 UTSW 8 125,063,350 (GRCm39) missense probably damaging 1.00
R0133:Galnt2 UTSW 8 125,065,277 (GRCm39) missense probably benign 0.19
R0453:Galnt2 UTSW 8 125,065,323 (GRCm39) splice site probably benign
R0709:Galnt2 UTSW 8 125,070,085 (GRCm39) missense probably benign 0.01
R1015:Galnt2 UTSW 8 125,063,356 (GRCm39) missense probably benign
R4400:Galnt2 UTSW 8 125,051,042 (GRCm39) missense probably damaging 1.00
R4447:Galnt2 UTSW 8 125,022,116 (GRCm39) missense probably benign 0.04
R4448:Galnt2 UTSW 8 125,022,116 (GRCm39) missense probably benign 0.04
R4449:Galnt2 UTSW 8 125,022,116 (GRCm39) missense probably benign 0.04
R4450:Galnt2 UTSW 8 125,022,116 (GRCm39) missense probably benign 0.04
R4927:Galnt2 UTSW 8 125,032,362 (GRCm39) missense probably damaging 1.00
R5536:Galnt2 UTSW 8 125,050,412 (GRCm39) missense probably damaging 1.00
R6218:Galnt2 UTSW 8 125,070,054 (GRCm39) missense probably benign 0.01
R6732:Galnt2 UTSW 8 125,067,561 (GRCm39) missense probably damaging 1.00
R6795:Galnt2 UTSW 8 125,070,175 (GRCm39) missense probably damaging 1.00
R6823:Galnt2 UTSW 8 125,050,750 (GRCm39) missense probably benign
R7173:Galnt2 UTSW 8 125,032,292 (GRCm39) missense probably benign 0.00
R7479:Galnt2 UTSW 8 125,061,077 (GRCm39) missense probably damaging 1.00
R7818:Galnt2 UTSW 8 125,056,527 (GRCm39) missense probably damaging 1.00
R7821:Galnt2 UTSW 8 125,070,134 (GRCm39) missense possibly damaging 0.51
R7831:Galnt2 UTSW 8 125,058,817 (GRCm39) missense probably benign 0.04
R8348:Galnt2 UTSW 8 125,061,025 (GRCm39) nonsense probably null
R8770:Galnt2 UTSW 8 125,061,025 (GRCm39) nonsense probably null
R8826:Galnt2 UTSW 8 125,032,347 (GRCm39) missense probably damaging 1.00
R9054:Galnt2 UTSW 8 125,058,837 (GRCm39) critical splice donor site probably null
R9269:Galnt2 UTSW 8 125,065,202 (GRCm39) missense probably benign 0.02
X0024:Galnt2 UTSW 8 125,070,084 (GRCm39) missense probably benign 0.28
Z1177:Galnt2 UTSW 8 125,070,057 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- TGATGGTATCACAGAACCACTC -3'
(R):5'- GACCTGTAAGCTCAGACCTTG -3'

Sequencing Primer
(F):5'- TCTGAAGCAGAGAAGCTGTG -3'
(R):5'- GTAAGCTCAGACCTTGTCATTTATC -3'
Posted On 2015-07-06