Incidental Mutation 'IGL02305:Pomt2'
ID287566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pomt2
Ensembl Gene ENSMUSG00000034126
Gene Nameprotein-O-mannosyltransferase 2
SynonymsA830009D15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02305
Quality Score
Status
Chromosome12
Chromosomal Location87106861-87147968 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 87117929 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037788] [ENSMUST00000222634]
Predicted Effect probably benign
Transcript: ENSMUST00000037788
SMART Domains Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126

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 noncoding transcript
Transcript: ENSMUST00000221252
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,772,929 T599I probably damaging Het
Ahi1 A G 10: 20,970,897 T409A probably benign Het
Apol10b T A 15: 77,585,430 R182S possibly damaging Het
Arhgap35 A G 7: 16,563,665 F492L probably benign Het
Ccdc136 A G 6: 29,406,174 D173G probably damaging Het
Ccdc36 A T 9: 108,405,832 M219K possibly damaging Het
Ccndbp1 T C 2: 121,011,452 L67P probably damaging Het
Dync2h1 C T 9: 7,122,678 V2093I probably benign Het
Eps15l1 T C 8: 72,387,009 K213R probably null Het
Fat4 A T 3: 39,009,988 N4698Y probably damaging Het
Frmpd1 G T 4: 45,249,209 R133L probably damaging Het
Gdi2 T A 13: 3,556,428 M158K probably damaging Het
Hoxc8 A G 15: 102,992,593 Y156C probably damaging Het
Kcnh2 T C 5: 24,322,660 D898G possibly damaging Het
Kng2 T C 16: 23,000,624 probably benign Het
Men1 T C 19: 6,340,138 L566P probably damaging Het
Mtmr2 T C 9: 13,795,255 W153R probably damaging Het
Mug2 T G 6: 122,036,056 L309R probably benign Het
Myo7a A G 7: 98,051,629 *2165R probably null Het
Ogfod2 T C 5: 124,112,847 probably null Het
Olfr44 A T 9: 39,485,037 I72N probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pard6g T C 18: 80,117,770 L366P probably damaging Het
Pdlim4 A T 11: 54,055,933 L117H probably damaging Het
Pkd1l1 G A 11: 8,902,467 A672V probably benign Het
Prpf4 T A 4: 62,415,396 probably benign Het
Rad17 C T 13: 100,633,862 probably null Het
Ryr3 T A 2: 112,645,277 I4499F probably damaging Het
Sav1 A G 12: 69,986,776 probably benign Het
Scube1 A T 15: 83,607,390 F887I probably damaging Het
Slc5a6 T C 5: 31,037,835 S473G probably benign Het
Taf1b T C 12: 24,544,271 S268P possibly damaging Het
Tmem135 A T 7: 89,165,123 probably null Het
Vmn2r104 A T 17: 20,042,856 N114K probably benign Het
Ypel5 A T 17: 72,848,596 Y53F probably benign Het
Zfp438 A G 18: 5,213,674 V428A possibly damaging Het
Zzef1 T C 11: 72,866,597 probably benign Het
Other mutations in Pomt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Pomt2 APN 12 87124856 missense probably damaging 1.00
IGL00508:Pomt2 APN 12 87119627 missense probably damaging 1.00
IGL01069:Pomt2 APN 12 87110304 missense probably damaging 1.00
IGL01688:Pomt2 APN 12 87147520 missense probably benign
IGL01887:Pomt2 APN 12 87119589 missense probably damaging 1.00
IGL02120:Pomt2 APN 12 87111552 missense probably benign 0.07
IGL02233:Pomt2 APN 12 87111411 missense probably benign 0.00
IGL02372:Pomt2 APN 12 87122835 splice site probably benign
IGL02516:Pomt2 APN 12 87119646 missense probably benign 0.00
IGL02616:Pomt2 APN 12 87124862 missense probably damaging 1.00
IGL03039:Pomt2 APN 12 87110366 missense probably benign 0.03
IGL03385:Pomt2 APN 12 87116556 missense probably damaging 1.00
PIT4366001:Pomt2 UTSW 12 87116529 critical splice donor site probably null
R1055:Pomt2 UTSW 12 87147480 missense possibly damaging 0.49
R1716:Pomt2 UTSW 12 87124836 missense probably benign 0.03
R1880:Pomt2 UTSW 12 87135596 missense probably damaging 1.00
R1881:Pomt2 UTSW 12 87135596 missense probably damaging 1.00
R2011:Pomt2 UTSW 12 87111399 missense possibly damaging 0.95
R2443:Pomt2 UTSW 12 87133380 missense probably damaging 1.00
R2913:Pomt2 UTSW 12 87128969 missense probably damaging 0.98
R4036:Pomt2 UTSW 12 87111522 critical splice donor site probably null
R4482:Pomt2 UTSW 12 87131830 missense probably benign 0.41
R4647:Pomt2 UTSW 12 87118083 missense possibly damaging 0.49
R4758:Pomt2 UTSW 12 87122878 missense probably damaging 1.00
R4872:Pomt2 UTSW 12 87110107 missense possibly damaging 0.89
R5071:Pomt2 UTSW 12 87133460 missense probably damaging 0.96
R5074:Pomt2 UTSW 12 87133460 missense probably damaging 0.96
R5132:Pomt2 UTSW 12 87110347 missense probably damaging 0.98
R5514:Pomt2 UTSW 12 87129023 missense probably damaging 1.00
R5790:Pomt2 UTSW 12 87127378 missense probably damaging 1.00
R6128:Pomt2 UTSW 12 87111335 critical splice donor site probably null
R6370:Pomt2 UTSW 12 87109199 missense probably damaging 1.00
R6631:Pomt2 UTSW 12 87139643 critical splice donor site probably null
R6979:Pomt2 UTSW 12 87130351 missense probably damaging 1.00
R7057:Pomt2 UTSW 12 87127378 missense probably damaging 0.96
R7114:Pomt2 UTSW 12 87110376 missense probably damaging 1.00
R7690:Pomt2 UTSW 12 87130367 missense probably damaging 1.00
R7864:Pomt2 UTSW 12 87122882 missense probably benign 0.00
R8060:Pomt2 UTSW 12 87129006 missense probably damaging 1.00
R8695:Pomt2 UTSW 12 87110016 missense probably benign 0.12
R8851:Pomt2 UTSW 12 87138064 missense probably damaging 0.99
X0026:Pomt2 UTSW 12 87111375 missense possibly damaging 0.93
Z1177:Pomt2 UTSW 12 87111442 missense possibly damaging 0.74
Z1177:Pomt2 UTSW 12 87139681 missense probably damaging 1.00
Posted On2015-04-16