Incidental Mutation 'H8441:Pomgnt2'
ID 82548
Institutional Source Beutler Lab
Gene Symbol Pomgnt2
Ensembl Gene ENSMUSG00000066235
Gene Name protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2
Synonyms Gtdc2, C85492
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # H8441 (G3) of strain 599
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 121810675-121825116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 121811650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 377 (Y377S)
Ref Sequence ENSEMBL: ENSMUSP00000149753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043011] [ENSMUST00000084743] [ENSMUST00000213773] [ENSMUST00000214511] [ENSMUST00000214533] [ENSMUST00000214536] [ENSMUST00000216669] [ENSMUST00000217610] [ENSMUST00000215990] [ENSMUST00000215084]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043011
SMART Domains Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 183 194 N/A INTRINSIC
Pfam:FAM198 220 544 1.3e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084743
AA Change: Y377S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095868
Gene: ENSMUSG00000066235
AA Change: Y377S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 29 38 N/A INTRINSIC
Pfam:DUF563 162 395 1.7e-25 PFAM
low complexity region 462 475 N/A INTRINSIC
SCOP:d1f6fb2 482 580 6e-9 SMART
Blast:FN3 486 570 2e-49 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000213773
Predicted Effect probably benign
Transcript: ENSMUST00000214511
Predicted Effect probably benign
Transcript: ENSMUST00000214533
Predicted Effect probably benign
Transcript: ENSMUST00000214536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215008
Predicted Effect probably damaging
Transcript: ENSMUST00000216669
AA Change: Y377S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217610
AA Change: Y377S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215990
Predicted Effect probably benign
Transcript: ENSMUST00000215084
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 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 protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A C 11: 50,675,505 (GRCm39) D677A probably damaging Het
Dido1 G T 2: 180,330,807 (GRCm39) Q214K probably benign Het
H2-T5 T A 17: 36,478,874 (GRCm39) Q125L possibly damaging Het
Itgbl1 A G 14: 124,210,699 (GRCm39) N342D probably damaging Het
Mlxipl T C 5: 135,152,815 (GRCm39) I282T probably damaging Het
Or6b13 C T 7: 139,781,871 (GRCm39) D271N possibly damaging Het
Pes1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 11: 3,927,636 (GRCm39) probably benign Het
Phf2 C T 13: 48,957,841 (GRCm39) A1058T possibly damaging Het
Pja2 T C 17: 64,618,192 (GRCm39) D69G probably damaging Het
Pnmt G A 11: 98,278,513 (GRCm39) A160T probably benign Het
Scn11a T A 9: 119,636,976 (GRCm39) I242F probably damaging Het
Slc7a1 C T 5: 148,271,355 (GRCm39) V535M probably benign Het
Stk32b T C 5: 37,614,578 (GRCm39) D310G probably damaging Het
Sult3a2 A T 10: 33,642,474 (GRCm39) H276Q probably benign Het
Susd5 A T 9: 113,925,253 (GRCm39) K379* probably null Het
Tbc1d16 C A 11: 119,039,840 (GRCm39) E656* probably null Het
Tcp10b T C 17: 13,289,748 (GRCm39) S234P probably damaging Het
Vmo1 A G 11: 70,404,572 (GRCm39) F143S probably damaging Het
Zfp609 T C 9: 65,702,169 (GRCm39) E161G possibly damaging Het
Other mutations in Pomgnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Pomgnt2 APN 9 121,812,191 (GRCm39) missense probably benign 0.03
IGL01911:Pomgnt2 APN 9 121,811,854 (GRCm39) missense probably benign 0.05
IGL01943:Pomgnt2 APN 9 121,811,536 (GRCm39) missense probably benign 0.06
IGL02955:Pomgnt2 APN 9 121,811,956 (GRCm39) missense probably damaging 1.00
R0080:Pomgnt2 UTSW 9 121,811,326 (GRCm39) missense probably damaging 1.00
R0082:Pomgnt2 UTSW 9 121,811,326 (GRCm39) missense probably damaging 1.00
R0602:Pomgnt2 UTSW 9 121,811,339 (GRCm39) missense probably benign 0.02
R0715:Pomgnt2 UTSW 9 121,811,127 (GRCm39) missense probably damaging 1.00
R1491:Pomgnt2 UTSW 9 121,811,326 (GRCm39) missense probably damaging 1.00
R1908:Pomgnt2 UTSW 9 121,811,257 (GRCm39) missense possibly damaging 0.89
R1909:Pomgnt2 UTSW 9 121,811,257 (GRCm39) missense possibly damaging 0.89
R2041:Pomgnt2 UTSW 9 121,811,354 (GRCm39) missense probably benign 0.00
R4428:Pomgnt2 UTSW 9 121,811,320 (GRCm39) missense possibly damaging 0.71
R4578:Pomgnt2 UTSW 9 121,812,131 (GRCm39) missense probably damaging 1.00
R4910:Pomgnt2 UTSW 9 121,812,013 (GRCm39) missense probably benign 0.19
R4937:Pomgnt2 UTSW 9 121,811,620 (GRCm39) missense probably benign 0.05
R5409:Pomgnt2 UTSW 9 121,811,303 (GRCm39) missense possibly damaging 0.71
R6090:Pomgnt2 UTSW 9 121,811,863 (GRCm39) missense probably damaging 1.00
R6596:Pomgnt2 UTSW 9 121,811,320 (GRCm39) missense possibly damaging 0.71
R7152:Pomgnt2 UTSW 9 121,812,589 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACACGCCGAATGGATTGCATAAG -3'
(R):5'- AAGACGGTTACAGTGTCCCTGGAG -3'

Sequencing Primer
(F):5'- CTGGTAGATTCGGAATAGCCACTC -3'
(R):5'- AGGACCACACCTTTGCTGATG -3'
Posted On 2013-11-08