Incidental Mutation 'R5536:Galnt2'
ID 501138
Institutional Source Beutler Lab
Gene Symbol Galnt2
Ensembl Gene ENSMUSG00000089704
Gene Name polypeptide N-acetylgalactosaminyltransferase 2
Synonyms ppGaNTase-T2
MMRRC Submission 043094-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5536 (G1)
Quality Score 195
Status Not validated
Chromosome 8
Chromosomal Location 124958133-125072461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125050412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 91 (C91R)
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034458] [ENSMUST00000127664]
AlphaFold Q6PB93
Predicted Effect probably damaging
Transcript: ENSMUST00000034458
AA Change: C125R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: C125R

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: C91R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: C91R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159796
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A probably 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
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
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'- AGAACGCCCTTGTCTGTAAGC -3'
(R):5'- GCTGATGTCCTGTCTGTAGC -3'

Sequencing Primer
(F):5'- TAAGCAGAACCTGGCTGTAGCTC -3'
(R):5'- GATGTCCTGTCTGTAGCCCCAG -3'
Posted On 2017-12-01