Incidental Mutation 'IGL01943:Pomgnt2'
ID180912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pomgnt2
Ensembl Gene ENSMUSG00000066235
Gene Nameprotein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2
SynonymsC85492, Gtdc2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01943
Quality Score
Status
Chromosome9
Chromosomal Location121981606-121997110 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 121982470 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 415 (T415N)
Ref Sequence ENSEMBL: ENSMUSP00000149753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043011] [ENSMUST00000084743] [ENSMUST00000213773] [ENSMUST00000214511] [ENSMUST00000214533] [ENSMUST00000214536] [ENSMUST00000215084] [ENSMUST00000215990] [ENSMUST00000216669] [ENSMUST00000217610]
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 benign
Transcript: ENSMUST00000084743
AA Change: T415N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095868
Gene: ENSMUSG00000066235
AA Change: T415N

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 benign
Transcript: ENSMUST00000215084
Predicted Effect probably benign
Transcript: ENSMUST00000215990
Predicted Effect probably benign
Transcript: ENSMUST00000216669
AA Change: T415N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000217610
AA Change: T415N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,096,483 K169E probably benign Het
Ago4 A G 4: 126,517,195 V167A probably damaging Het
AI314180 A G 4: 58,849,937 F429L possibly damaging Het
Bcam C T 7: 19,765,498 R200H probably damaging Het
Cblb G A 16: 52,139,633 probably null Het
Cdc37 T C 9: 21,143,113 E72G probably benign Het
Chek2 T A 5: 110,841,227 probably benign Het
Col6a1 A T 10: 76,719,123 probably null Het
Col7a1 A G 9: 108,984,016 probably null Het
Fmo3 C T 1: 162,967,006 R165H probably benign Het
Gm2663 C T 6: 40,996,076 G199D probably damaging Het
Gm6904 A T 14: 59,251,162 V62E probably damaging Het
Gm8108 T C 14: 4,127,217 S134P probably damaging Het
Kif1b A T 4: 149,214,905 probably null Het
Krt76 T A 15: 101,889,045 D293V probably null Het
Lifr T A 15: 7,188,149 C853S probably damaging Het
Muc5b A T 7: 141,861,497 I2727F possibly damaging Het
Myo7a T C 7: 98,065,647 K1606R possibly damaging Het
Noxred1 G T 12: 87,223,181 Q259K probably benign Het
Obox3 C T 7: 15,626,852 E121K probably benign Het
Olfr125 G A 17: 37,835,053 R18H probably benign Het
Olfr1388 T A 11: 49,444,188 C112* probably null Het
Olfr1449 T C 19: 12,935,674 L312S probably benign Het
Olfr348 T C 2: 36,787,083 I186T probably benign Het
Pkd2l2 T C 18: 34,417,036 F245L probably damaging Het
Pla2g6 T C 15: 79,313,116 Q86R probably null Het
Polq T A 16: 37,061,443 I1044K possibly damaging Het
Pprc1 T A 19: 46,064,544 probably benign Het
Prol1 T A 5: 88,327,961 M70K probably benign Het
Ptpn22 T A 3: 103,886,336 V601E probably benign Het
Slc16a3 T C 11: 120,956,883 probably null Het
Slco1b2 A G 6: 141,676,286 D489G possibly damaging Het
Sphk2 T C 7: 45,710,724 probably benign Het
Stat4 C T 1: 52,096,855 T441I possibly damaging Het
Tle1 A T 4: 72,122,402 V647E probably damaging Het
Tnrc6b C A 15: 80,927,695 Y814* probably null Het
Tubgcp3 A G 8: 12,654,301 F256S probably damaging Het
Uqcrb A T 13: 66,902,763 probably null Het
Vmn1r200 A T 13: 22,395,927 E300V possibly damaging Het
Zfp324 C T 7: 12,968,786 probably benign Het
Zxdc T C 6: 90,372,538 probably benign Het
Other mutations in Pomgnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Pomgnt2 APN 9 121983125 missense probably benign 0.03
IGL01911:Pomgnt2 APN 9 121982788 missense probably benign 0.05
IGL02955:Pomgnt2 APN 9 121982890 missense probably damaging 1.00
H8441:Pomgnt2 UTSW 9 121982584 missense probably damaging 1.00
R0080:Pomgnt2 UTSW 9 121982260 missense probably damaging 1.00
R0082:Pomgnt2 UTSW 9 121982260 missense probably damaging 1.00
R0602:Pomgnt2 UTSW 9 121982273 missense probably benign 0.02
R0715:Pomgnt2 UTSW 9 121982061 missense probably damaging 1.00
R1491:Pomgnt2 UTSW 9 121982260 missense probably damaging 1.00
R1908:Pomgnt2 UTSW 9 121982191 missense possibly damaging 0.89
R1909:Pomgnt2 UTSW 9 121982191 missense possibly damaging 0.89
R2041:Pomgnt2 UTSW 9 121982288 missense probably benign 0.00
R4428:Pomgnt2 UTSW 9 121982254 missense possibly damaging 0.71
R4578:Pomgnt2 UTSW 9 121983065 missense probably damaging 1.00
R4910:Pomgnt2 UTSW 9 121982947 missense probably benign 0.19
R4937:Pomgnt2 UTSW 9 121982554 missense probably benign 0.05
R5409:Pomgnt2 UTSW 9 121982237 missense possibly damaging 0.71
R6090:Pomgnt2 UTSW 9 121982797 missense probably damaging 1.00
R6596:Pomgnt2 UTSW 9 121982254 missense possibly damaging 0.71
R7152:Pomgnt2 UTSW 9 121983523 missense not run
Posted On2014-05-07