Incidental Mutation 'R7479:Galnt2'
ID 579680
Institutional Source Beutler Lab
Gene Symbol Galnt2
Ensembl Gene ENSMUSG00000089704
Gene Name polypeptide N-acetylgalactosaminyltransferase 2
Synonyms ppGaNTase-T2
MMRRC Submission 045553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R7479 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124958133-125072461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125061077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 357 (G357D)
Ref Sequence ENSEMBL: ENSMUSP00000034458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034458] [ENSMUST00000127664]
AlphaFold Q6PB93
Predicted Effect probably damaging
Transcript: ENSMUST00000034458
AA Change: G357D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: G357D

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 damaging
Transcript: ENSMUST00000127664
AA Change: G323D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: G323D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,142 (GRCm39) M81L probably benign Het
Ano9 T C 7: 140,682,348 (GRCm39) T667A probably damaging Het
Anpep T A 7: 79,485,118 (GRCm39) I623F probably benign Het
Apba2 T C 7: 64,389,607 (GRCm39) I501T possibly damaging Het
Ascc3 T A 10: 50,525,895 (GRCm39) Y536N probably damaging Het
B4galt1 T C 4: 40,823,587 (GRCm39) Y168C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2 A G 17: 35,082,441 (GRCm39) C647R probably damaging Het
Cnot4 G A 6: 35,001,083 (GRCm39) T604I probably benign Het
Col11a1 C T 3: 113,896,218 (GRCm39) T506I unknown Het
Cr2 A C 1: 194,840,718 (GRCm39) probably null Het
Ctsm A T 13: 61,685,569 (GRCm39) V281D probably damaging Het
Cyp2c69 T C 19: 39,870,001 (GRCm39) I74V probably benign Het
Dennd4c T A 4: 86,717,590 (GRCm39) V529D probably damaging Het
Dlgap3 C A 4: 127,088,418 (GRCm39) H5N possibly damaging Het
Dusp10 C A 1: 183,769,617 (GRCm39) H194Q probably damaging Het
Eln C G 5: 134,736,429 (GRCm39) G753A unknown Het
Emb T A 13: 117,385,962 (GRCm39) N118K possibly damaging Het
Fam184a C T 10: 53,531,110 (GRCm39) V755I probably benign Het
Fryl A G 5: 73,254,904 (GRCm39) I846T possibly damaging Het
Gabbr2 T A 4: 46,681,166 (GRCm39) I722F probably damaging Het
Gabrb3 T A 7: 57,474,171 (GRCm39) D362E possibly damaging Het
Gbx2 A T 1: 89,858,373 (GRCm39) S35R probably benign Het
Glg1 A G 8: 111,924,367 (GRCm39) I207T possibly damaging Het
Gm10192 A T 4: 97,071,272 (GRCm39) N44K unknown Het
Gpd1 A G 15: 99,617,984 (GRCm39) D123G probably benign Het
Grm2 A T 9: 106,531,050 (GRCm39) D146E possibly damaging Het
Gsg1l2 A G 11: 67,676,032 (GRCm39) D132G probably benign Het
Hecw1 C T 13: 14,515,425 (GRCm39) G236R probably damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hspg2 C T 4: 137,266,714 (GRCm39) A1934V probably benign Het
Il7r C T 15: 9,513,117 (GRCm39) A131T probably damaging Het
Itga6 C T 2: 71,668,680 (GRCm39) R540* probably null Het
Kcnh2 A G 5: 24,530,490 (GRCm39) probably null Het
Kcnq4 C T 4: 120,573,022 (GRCm39) A260T probably damaging Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrrc41 C T 4: 115,946,238 (GRCm39) P318S probably damaging Het
Map4 G A 9: 109,897,892 (GRCm39) G873R possibly damaging Het
Med24 A G 11: 98,595,787 (GRCm39) I968T possibly damaging Het
Mfap5 T C 6: 122,503,821 (GRCm39) probably null Het
Mtcl1 A G 17: 66,686,485 (GRCm39) V807A probably benign Het
Mug1 T A 6: 121,855,467 (GRCm39) S934T possibly damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nkx2-4 T C 2: 146,926,088 (GRCm39) E258G probably benign Het
Polr1a T A 6: 71,913,281 (GRCm39) V545E probably damaging Het
Ppp1r9b A G 11: 94,882,858 (GRCm39) D162G possibly damaging Het
Rhot2 A G 17: 26,059,723 (GRCm39) L367P probably damaging Het
Ripk2 A G 4: 16,155,154 (GRCm39) F122L probably benign Het
Scn11a T C 9: 119,588,941 (GRCm39) T1322A probably benign Het
Scn8a T A 15: 100,853,358 (GRCm39) L115Q probably damaging Het
Sel1l3 G T 5: 53,274,462 (GRCm39) P1006Q probably damaging Het
Septin11 A T 5: 93,304,804 (GRCm39) N207I probably damaging Het
Sez6l2 C T 7: 126,562,831 (GRCm39) T669I probably damaging Het
Sfxn4 T A 19: 60,847,112 (GRCm39) D57V possibly damaging Het
Smarca2 T A 19: 26,617,887 (GRCm39) V306D probably benign Het
Srgap3 C T 6: 112,712,794 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,541 (GRCm39) F7L not run Het
Tbcd T C 11: 121,383,431 (GRCm39) probably null Het
Tcn2 G A 11: 3,867,703 (GRCm39) A413V probably damaging Het
Tdp1 T C 12: 99,857,654 (GRCm39) V71A probably benign Het
Tjp1 T C 7: 64,950,928 (GRCm39) T1649A probably damaging Het
Tnc T C 4: 63,935,865 (GRCm39) E357G possibly damaging Het
Tnrc6b A G 15: 80,773,327 (GRCm39) T1158A probably benign Het
Ttn C A 2: 76,568,952 (GRCm39) E27314* probably null Het
Vps35 G T 8: 85,997,434 (GRCm39) T512K probably benign Het
Zfp40 A T 17: 23,396,292 (GRCm39) S98R probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp945 A T 17: 23,070,340 (GRCm39) C541S possibly damaging Het
Zfp976 T A 7: 42,262,603 (GRCm39) E412D probably benign 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
R4388:Galnt2 UTSW 8 125,022,192 (GRCm39) critical splice donor site probably null
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
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'- ATAAAAGCTCCAGGTCCTGC -3'
(R):5'- GGCATGCTAGTCGCTATTCC -3'

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