Incidental Mutation 'IGL01069:Pomt2'
ID 52425
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 # IGL01069
Quality Score
Status
Chromosome 12
Chromosomal Location 87153635-87194742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87157078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 747 (T747K)
Ref Sequence ENSEMBL: ENSMUSP00000035260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037788] [ENSMUST00000222634]
AlphaFold Q8BGQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000037788
AA Change: T747K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: T747K

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* 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
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
IGL02233:Pomt2 APN 12 87,158,185 (GRCm39) missense probably benign 0.00
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 2013-06-21