Incidental Mutation 'R5790:Pomt2'
ID 448295
Institutional Source Beutler Lab
Gene Symbol Pomt2
Ensembl Gene ENSMUSG00000034126
Gene Name protein-O-mannosyltransferase 2
Synonyms A830009D15Rik
MMRRC Submission 043384-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5790 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 87153635-87194742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87174152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 347 (N347T)
Ref Sequence ENSEMBL: ENSMUSP00000152370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037788] [ENSMUST00000222634]
AlphaFold Q8BGQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000037788
AA Change: N417T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: N417T

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 noncoding transcript
Transcript: ENSMUST00000222147
Predicted Effect probably damaging
Transcript: ENSMUST00000222634
AA Change: N347T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.9205 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (73/74)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A T 5: 31,051,702 (GRCm39) R633* probably null Het
Ahnak T C 19: 8,992,612 (GRCm39) V4632A probably damaging Het
Asap1 T A 15: 63,966,114 (GRCm39) D997V probably damaging Het
Atad2 T C 15: 57,989,990 (GRCm39) Y162C probably damaging Het
Atp2b2 G T 6: 113,736,270 (GRCm39) S936R probably damaging Het
Bcl11a T A 11: 24,113,650 (GRCm39) L331Q probably damaging Het
C6 T A 15: 4,792,968 (GRCm39) F358I probably damaging Het
Capn15 C T 17: 26,183,521 (GRCm39) S386N probably benign Het
Ccdc66 G A 14: 27,222,404 (GRCm39) T113I possibly damaging Het
Cd200 G T 16: 45,217,621 (GRCm39) H23Q possibly damaging Het
Cdh17 A G 4: 11,814,945 (GRCm39) probably null Het
Ces2b C T 8: 105,560,568 (GRCm39) P128S probably damaging Het
Ces3b A T 8: 105,819,270 (GRCm39) Q442L probably damaging Het
Chil4 T C 3: 106,109,894 (GRCm39) H373R probably benign Het
Ciapin1 C A 8: 95,551,811 (GRCm39) probably benign Het
Cnot10 A C 9: 114,454,985 (GRCm39) probably null Het
Cpq A G 15: 33,250,143 (GRCm39) K167E probably damaging Het
Dennd4b T A 3: 90,184,757 (GRCm39) D1118E probably damaging Het
Dnah8 T A 17: 31,093,978 (GRCm39) C4691S probably damaging Het
Dnajc1 A G 2: 18,311,898 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,304,981 (GRCm39) R341H probably damaging Het
Dock10 G T 1: 80,482,887 (GRCm39) T2145K probably benign Het
Eif3b T C 5: 140,427,886 (GRCm39) V736A probably benign Het
Eno1 G T 4: 150,329,710 (GRCm39) V195L probably benign Het
Ewsr1 C T 11: 5,032,263 (GRCm39) probably benign Het
Fbn2 T C 18: 58,209,768 (GRCm39) T1038A probably benign Het
Gabrb1 T C 5: 72,293,827 (GRCm39) I367T possibly damaging Het
Gigyf1 C T 5: 137,522,517 (GRCm39) probably benign Het
Glp2r T A 11: 67,655,625 (GRCm39) Y39F probably damaging Het
Gm10036 T A 18: 15,966,243 (GRCm39) Y131* probably null Het
Gm38706 T C 6: 130,461,961 (GRCm39) noncoding transcript Het
Gna15 G A 10: 81,345,218 (GRCm39) R216C probably damaging Het
Grin3a A G 4: 49,792,717 (GRCm39) F339L probably damaging Het
Grk3 T G 5: 113,114,842 (GRCm39) K126T possibly damaging Het
Hspa1l T C 17: 35,196,216 (GRCm39) V85A probably benign Het
Iqsec1 A T 6: 90,666,862 (GRCm39) L525* probably null Het
Irx3 T C 8: 92,526,304 (GRCm39) T467A probably benign Het
Itga2 G A 13: 115,004,742 (GRCm39) T530I probably benign Het
Lonp2 T C 8: 87,358,118 (GRCm39) V113A probably benign Het
Msx3 C T 7: 139,628,866 (GRCm39) R16H possibly damaging Het
Nek3 C A 8: 22,621,313 (GRCm39) Q405H probably damaging Het
Nek3 T A 8: 22,621,314 (GRCm39) Q403L probably damaging Het
Or2b6 T C 13: 21,823,046 (GRCm39) T216A probably benign Het
Or6c66 A G 10: 129,461,757 (GRCm39) Y58H probably damaging Het
P4ha1 A G 10: 59,190,184 (GRCm39) N367S probably benign Het
Padi6 C A 4: 140,459,569 (GRCm39) G429C probably damaging Het
Pidd1 T C 7: 141,021,305 (GRCm39) probably benign Het
Plekhg5 T C 4: 152,198,392 (GRCm39) V847A probably benign Het
Polr3e A G 7: 120,527,190 (GRCm39) D56G probably damaging Het
Ppp1r9a T C 6: 5,134,363 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,296 (GRCm39) D184V probably damaging Het
Rims2 A T 15: 39,544,441 (GRCm39) T1431S probably damaging Het
Saal1 T C 7: 46,351,352 (GRCm39) D208G probably damaging Het
Sis T C 3: 72,835,507 (GRCm39) I952V probably benign Het
Slc30a1 T A 1: 191,640,997 (GRCm39) D214E probably benign Het
Slc30a8 T C 15: 52,197,043 (GRCm39) V318A possibly damaging Het
Smarca2 A G 19: 26,654,124 (GRCm39) T770A probably damaging Het
Sptbn4 T A 7: 27,065,853 (GRCm39) H2031L probably damaging Het
Ssbp1 A G 6: 40,457,804 (GRCm39) S141G probably benign Het
Tgm4 A G 9: 122,890,808 (GRCm39) E45G probably damaging Het
Thra T A 11: 98,653,777 (GRCm39) S203T probably benign Het
Tle2 T C 10: 81,426,149 (GRCm39) Y763H probably damaging Het
Tmem141 T A 2: 25,511,087 (GRCm39) I102L probably benign Het
Tmem63c C T 12: 87,104,410 (GRCm39) T77I probably benign Het
Tspo2 C A 17: 48,756,047 (GRCm39) probably null Het
Ttc19 T A 11: 62,172,340 (GRCm39) M1K probably null Het
Ucp1 A G 8: 84,024,520 (GRCm39) N282D possibly damaging Het
Vmn1r33 A T 6: 66,589,198 (GRCm39) F119I probably benign Het
Vmn2r24 A T 6: 123,792,499 (GRCm39) M609L probably benign Het
Vwc2l A T 1: 70,790,142 (GRCm39) H146L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCAGTCAATAGAAAATGGGTGAACC -3'
(R):5'- GGAGCTTCCTCTTGAGTTGC -3'

Sequencing Primer
(F):5'- GTGAACCACAGATGACAAGC -3'
(R):5'- TGCTCCCATTGCAGTGAGAAG -3'
Posted On 2016-12-15