Incidental Mutation 'R7690:Pomt2'
ID 593351
Institutional Source Beutler Lab
Gene Symbol Pomt2
Ensembl Gene ENSMUSG00000034126
Gene Name protein-O-mannosyltransferase 2
Synonyms A830009D15Rik
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 87153635-87194742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87177141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 352 (R352L)
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: R352L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: R352L

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 damaging
Transcript: ENSMUST00000222634
AA Change: R282L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9466 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TAACCTCAGGCCTGGGAATC -3'
(R):5'- AGGGAGCTGGCCTATATTATCTC -3'

Sequencing Primer
(F):5'- TCAGGCCTGGGAATCACACC -3'
(R):5'- AGCTGGCCTATATTATCTCCTTGAAG -3'
Posted On 2019-11-12