Incidental Mutation 'IGL02233:Pomt2'
ID 285804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pomt2
Ensembl Gene ENSMUSG00000034126
Gene Name protein-O-mannosyltransferase 2
Synonyms A830009D15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02233
Quality Score
Status
Chromosome 12
Chromosomal Location 87153635-87194742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87158185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 676 (V676A)
Ref Sequence ENSEMBL: ENSMUSP00000035260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037788] [ENSMUST00000222634]
AlphaFold Q8BGQ4
Predicted Effect probably benign
Transcript: ENSMUST00000037788
AA Change: V676A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: V676A

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:PMT 132 376 5.4e-91 PFAM
MIR 404 460 4.05e-9 SMART
MIR 473 529 5.52e-11 SMART
MIR 534 591 1.21e-7 SMART
Pfam:PMT_4TMC 608 818 5.9e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222634
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involved in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for one knock-out allele die between E8.5 and E9.5 with abnormal Reichert's membrane and runting. Mice homozygous for another allele die before implantation and arrest at the morula stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,165,170 (GRCm39) Q1581* probably null Het
Abcc10 A T 17: 46,635,085 (GRCm39) probably null Het
Adam25 A G 8: 41,208,423 (GRCm39) Y563C probably damaging Het
Cnr2 T A 4: 135,644,522 (GRCm39) I200N possibly damaging Het
Col5a2 T C 1: 45,422,747 (GRCm39) probably null Het
Cpa2 T C 6: 30,557,666 (GRCm39) probably benign Het
Dis3l2 T C 1: 86,917,953 (GRCm39) V534A probably damaging Het
Dlg2 A T 7: 92,093,746 (GRCm39) D845V probably damaging Het
Dnah8 T C 17: 30,925,487 (GRCm39) probably null Het
Ephb4 T A 5: 137,352,763 (GRCm39) Y115* probably null Het
Evc2 A G 5: 37,535,681 (GRCm39) Y452C probably damaging Het
Fbn1 A G 2: 125,163,530 (GRCm39) probably benign Het
Gm5134 A T 10: 75,844,334 (GRCm39) probably null Het
Gpr157 A G 4: 150,186,184 (GRCm39) T249A possibly damaging Het
Hoxc6 A G 15: 102,918,308 (GRCm39) T91A probably benign Het
Lin9 C A 1: 180,516,865 (GRCm39) A535E probably damaging Het
Muc1 G A 3: 89,138,935 (GRCm39) V515I probably benign Het
Mup3 A G 4: 62,003,016 (GRCm39) I170T probably damaging Het
Myo1e T C 9: 70,291,081 (GRCm39) probably benign Het
Or3a1d A G 11: 74,238,254 (GRCm39) V52A possibly damaging Het
Or8b50 A G 9: 38,518,538 (GRCm39) Y259C probably damaging Het
Pde4d T C 13: 109,877,084 (GRCm39) S202P probably damaging Het
Rasl10a C A 11: 5,008,333 (GRCm39) L10M probably damaging Het
Rilp T C 11: 75,403,538 (GRCm39) Y327H probably damaging Het
Sec23ip A G 7: 128,380,903 (GRCm39) S957G probably damaging Het
Srbd1 T C 17: 86,406,050 (GRCm39) probably null Het
Thsd7a T C 6: 12,555,257 (GRCm39) H209R probably benign Het
Trav14-3 T C 14: 54,000,643 (GRCm39) probably benign Het
Vipr2 A G 12: 116,058,356 (GRCm39) N91S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Pomt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Pomt2 APN 12 87,171,630 (GRCm39) missense probably damaging 1.00
IGL00508:Pomt2 APN 12 87,166,401 (GRCm39) missense probably damaging 1.00
IGL01069:Pomt2 APN 12 87,157,078 (GRCm39) missense probably damaging 1.00
IGL01688:Pomt2 APN 12 87,194,294 (GRCm39) missense probably benign
IGL01887:Pomt2 APN 12 87,166,363 (GRCm39) missense probably damaging 1.00
IGL02120:Pomt2 APN 12 87,158,326 (GRCm39) missense probably benign 0.07
IGL02305:Pomt2 APN 12 87,164,703 (GRCm39) splice site probably benign
IGL02372:Pomt2 APN 12 87,169,609 (GRCm39) splice site probably benign
IGL02516:Pomt2 APN 12 87,166,420 (GRCm39) missense probably benign 0.00
IGL02616:Pomt2 APN 12 87,171,636 (GRCm39) missense probably damaging 1.00
IGL03039:Pomt2 APN 12 87,157,140 (GRCm39) missense probably benign 0.03
IGL03385:Pomt2 APN 12 87,163,330 (GRCm39) missense probably damaging 1.00
PIT4366001:Pomt2 UTSW 12 87,163,303 (GRCm39) critical splice donor site probably null
R1055:Pomt2 UTSW 12 87,194,254 (GRCm39) missense possibly damaging 0.49
R1716:Pomt2 UTSW 12 87,171,610 (GRCm39) missense probably benign 0.03
R1880:Pomt2 UTSW 12 87,182,370 (GRCm39) missense probably damaging 1.00
R1881:Pomt2 UTSW 12 87,182,370 (GRCm39) missense probably damaging 1.00
R2011:Pomt2 UTSW 12 87,158,173 (GRCm39) missense possibly damaging 0.95
R2443:Pomt2 UTSW 12 87,180,154 (GRCm39) missense probably damaging 1.00
R2913:Pomt2 UTSW 12 87,175,743 (GRCm39) missense probably damaging 0.98
R4036:Pomt2 UTSW 12 87,158,296 (GRCm39) critical splice donor site probably null
R4482:Pomt2 UTSW 12 87,178,604 (GRCm39) missense probably benign 0.41
R4647:Pomt2 UTSW 12 87,164,857 (GRCm39) missense possibly damaging 0.49
R4758:Pomt2 UTSW 12 87,169,652 (GRCm39) missense probably damaging 1.00
R4872:Pomt2 UTSW 12 87,156,881 (GRCm39) missense possibly damaging 0.89
R5071:Pomt2 UTSW 12 87,180,234 (GRCm39) missense probably damaging 0.96
R5074:Pomt2 UTSW 12 87,180,234 (GRCm39) missense probably damaging 0.96
R5132:Pomt2 UTSW 12 87,157,121 (GRCm39) missense probably damaging 0.98
R5514:Pomt2 UTSW 12 87,175,797 (GRCm39) missense probably damaging 1.00
R5790:Pomt2 UTSW 12 87,174,152 (GRCm39) missense probably damaging 1.00
R6128:Pomt2 UTSW 12 87,158,109 (GRCm39) critical splice donor site probably null
R6370:Pomt2 UTSW 12 87,155,973 (GRCm39) missense probably damaging 1.00
R6631:Pomt2 UTSW 12 87,186,417 (GRCm39) critical splice donor site probably null
R6979:Pomt2 UTSW 12 87,177,125 (GRCm39) missense probably damaging 1.00
R7057:Pomt2 UTSW 12 87,174,152 (GRCm39) missense probably damaging 0.96
R7114:Pomt2 UTSW 12 87,157,150 (GRCm39) missense probably damaging 1.00
R7690:Pomt2 UTSW 12 87,177,141 (GRCm39) missense probably damaging 1.00
R7864:Pomt2 UTSW 12 87,169,656 (GRCm39) missense probably benign 0.00
R8060:Pomt2 UTSW 12 87,175,780 (GRCm39) missense probably damaging 1.00
R8695:Pomt2 UTSW 12 87,156,790 (GRCm39) missense probably benign 0.12
R8851:Pomt2 UTSW 12 87,184,838 (GRCm39) missense probably damaging 0.99
R9176:Pomt2 UTSW 12 87,194,451 (GRCm39) intron probably benign
R9407:Pomt2 UTSW 12 87,157,146 (GRCm39) missense probably damaging 1.00
R9509:Pomt2 UTSW 12 87,184,802 (GRCm39) missense possibly damaging 0.48
X0026:Pomt2 UTSW 12 87,158,149 (GRCm39) missense possibly damaging 0.93
Z1177:Pomt2 UTSW 12 87,186,455 (GRCm39) missense probably damaging 1.00
Z1177:Pomt2 UTSW 12 87,158,216 (GRCm39) missense possibly damaging 0.74
Posted On 2015-04-16