Incidental Mutation 'IGL00508:Pomt2'
ID 5968
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 # IGL00508
Quality Score
Status
Chromosome 12
Chromosomal Location 87153635-87194742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87166401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 426 (H426P)
Ref Sequence ENSEMBL: ENSMUSP00000152370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037788] [ENSMUST00000222634]
AlphaFold Q8BGQ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000037788
AA Change: H496P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: H496P

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 damaging
Transcript: ENSMUST00000222634
AA Change: H426P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Adgrv1 A C 13: 81,654,306 (GRCm39) D2188E probably damaging Het
Atrx A G X: 104,867,405 (GRCm39) S2026P probably damaging Het
Cacna1b A C 2: 24,547,301 (GRCm39) probably null Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cfap57 C T 4: 118,438,367 (GRCm39) probably null Het
Ckap5 T G 2: 91,436,601 (GRCm39) V1567G probably damaging Het
Cyp2c38 A T 19: 39,449,169 (GRCm39) Y61* probably null Het
D130052B06Rik A G 11: 33,549,402 (GRCm39) E7G unknown Het
Dhx38 A G 8: 110,283,566 (GRCm39) L527P possibly damaging Het
Dnaaf5 A G 5: 139,163,701 (GRCm39) N653D probably benign Het
Dnah8 T G 17: 31,074,904 (GRCm39) M4541R probably damaging Het
Dpyd A T 3: 118,858,636 (GRCm39) T617S probably benign Het
Fpr2 A T 17: 18,113,034 (GRCm39) N10I probably damaging Het
Frmd4a A T 2: 4,599,545 (GRCm39) K524* probably null Het
Gpr45 C T 1: 43,071,452 (GRCm39) P32S possibly damaging Het
H2-Eb2 A T 17: 34,553,341 (GRCm39) I176F probably damaging Het
Hcrtr1 T A 4: 130,031,062 (GRCm39) N74I probably damaging Het
Ifi47 C T 11: 48,986,241 (GRCm39) Q3* probably null Het
Krt8 T A 15: 101,906,460 (GRCm39) M350L probably benign Het
Lilra6 A G 7: 3,914,553 (GRCm39) S533P probably benign Het
Map1b A T 13: 99,565,741 (GRCm39) S2327T unknown Het
Mcoln3 T A 3: 145,839,683 (GRCm39) I345N probably damaging Het
Mettl3 C A 14: 52,532,436 (GRCm39) probably benign Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Micall1 A G 15: 79,014,768 (GRCm39) K715E probably damaging Het
Pak1 G T 7: 97,503,775 (GRCm39) G37C probably benign Het
Pou2f3 G A 9: 43,051,258 (GRCm39) P155S probably benign Het
Psg25 A G 7: 18,263,656 (GRCm39) Y56H probably benign Het
Rab9 G T X: 165,240,860 (GRCm39) Y150* probably null Het
Rhox2g T A X: 36,824,463 (GRCm39) N152I probably damaging Het
Sema6d T C 2: 124,498,844 (GRCm39) probably benign Het
Simc1 C A 13: 54,672,989 (GRCm39) Q446K probably benign Het
Svs5 G T 2: 164,078,962 (GRCm39) T315K possibly damaging Het
Syt9 C T 7: 107,024,574 (GRCm39) R156* probably null Het
Tmem260 A T 14: 48,746,578 (GRCm39) Y618F probably damaging Het
Wdr44 A G X: 23,666,783 (GRCm39) I719V possibly damaging Het
Zfp518a T G 19: 40,901,914 (GRCm39) I614M probably damaging Het
Other mutations in Pomt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Pomt2 APN 12 87,171,630 (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
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 2012-04-20