Incidental Mutation 'R5108:Pcmtd2'
ID 393650
Institutional Source Beutler Lab
Gene Symbol Pcmtd2
Ensembl Gene ENSMUSG00000027589
Gene Name protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2
Synonyms 5330414D10Rik
MMRRC Submission 042696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5108 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 181479647-181499254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181486216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 112 (E112G)
Ref Sequence ENSEMBL: ENSMUSP00000104385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029116] [ENSMUST00000108754] [ENSMUST00000139434]
AlphaFold Q8BHD8
Predicted Effect probably damaging
Transcript: ENSMUST00000029116
AA Change: E112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: E112G

DomainStartEndE-ValueType
Pfam:PCMT 9 224 1e-28 PFAM
low complexity region 277 284 N/A INTRINSIC
low complexity region 310 322 N/A INTRINSIC
low complexity region 341 356 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108754
AA Change: E112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589
AA Change: E112G

DomainStartEndE-ValueType
Pfam:PCMT 9 215 2.1e-28 PFAM
Pfam:DOT1 58 158 1.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124346
SMART Domains Protein: ENSMUSP00000115743
Gene: ENSMUSG00000027589

DomainStartEndE-ValueType
Pfam:PCMT 8 103 4.5e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139434
AA Change: E112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115096
Gene: ENSMUSG00000027589
AA Change: E112G

DomainStartEndE-ValueType
Pfam:PCMT 9 185 2e-24 PFAM
Pfam:DOT1 58 158 4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155970
Meta Mutation Damage Score 0.9254 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,094,207 (GRCm39) N94Y probably damaging Het
Ak2 A G 4: 128,896,034 (GRCm39) T104A probably damaging Het
Alox12b G T 11: 69,048,208 (GRCm39) A46S probably benign Het
Ank1 G T 8: 23,622,571 (GRCm39) V1662F probably benign Het
Anxa3 T C 5: 96,978,273 (GRCm39) I219T possibly damaging Het
Aoc1l3 C T 6: 48,965,504 (GRCm39) T504I probably damaging Het
Arhgap40 G A 2: 158,389,599 (GRCm39) V588M probably damaging Het
Arhgef38 T C 3: 132,843,029 (GRCm39) T514A probably benign Het
Ascl4 C A 10: 85,764,422 (GRCm39) A23E probably benign Het
Bcl11b T C 12: 107,931,985 (GRCm39) T196A probably benign Het
C1ra A T 6: 124,499,881 (GRCm39) Y689F probably damaging Het
Ccr3 A G 9: 123,828,968 (GRCm39) N101S probably benign Het
Cep70 A T 9: 99,145,865 (GRCm39) probably null Het
Ces1b A G 8: 93,798,541 (GRCm39) V215A probably damaging Het
Cndp1 A T 18: 84,650,186 (GRCm39) I169N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo2 A G 4: 148,250,486 (GRCm39) Q275R probably damaging Het
Fbxo44 T C 4: 148,243,020 (GRCm39) N133S probably damaging Het
Fzr1 C T 10: 81,205,284 (GRCm39) probably benign Het
Grn T C 11: 102,325,228 (GRCm39) S213P probably benign Het
Ifi203 A T 1: 173,751,580 (GRCm39) C414S probably damaging Het
Igfn1 C T 1: 135,910,179 (GRCm39) R135H probably benign Het
Kcnk10 T C 12: 98,401,560 (GRCm39) M358V probably benign Het
Kcnn2 A T 18: 45,725,122 (GRCm39) Y471F probably damaging Het
Klhl20 A T 1: 160,926,820 (GRCm39) V391E probably damaging Het
Krt1c C T 15: 101,721,721 (GRCm39) G440D possibly damaging Het
Lpin1 A T 12: 16,623,716 (GRCm39) Y223N probably benign Het
Luzp2 G A 7: 54,915,038 (GRCm39) C321Y probably damaging Het
Mcm3ap T C 10: 76,338,536 (GRCm39) V1388A probably benign Het
Mdga2 A T 12: 66,533,515 (GRCm39) H223Q probably benign Het
Mgat4e G T 1: 134,468,961 (GRCm39) P361Q probably benign Het
Mylk3 A T 8: 86,085,721 (GRCm39) I208N possibly damaging Het
Myom2 T A 8: 15,182,667 (GRCm39) V1368E probably damaging Het
Mypn C T 10: 62,972,073 (GRCm39) D656N probably damaging Het
Nat10 C A 2: 103,562,548 (GRCm39) R596L probably damaging Het
Nek8 T C 11: 78,063,353 (GRCm39) D137G probably damaging Het
Neurl1a A G 19: 47,246,074 (GRCm39) K552E probably damaging Het
Npdc1 C T 2: 25,298,667 (GRCm39) H260Y probably damaging Het
Nuggc A T 14: 65,876,129 (GRCm39) I581F probably damaging Het
Or8d23 T A 9: 38,842,151 (GRCm39) I228N probably damaging Het
P2rx6 T C 16: 17,380,037 (GRCm39) Y54H probably damaging Het
Pcnx4 G A 12: 72,620,855 (GRCm39) V892I probably benign Het
Pdss1 T A 2: 22,796,895 (GRCm39) V136E possibly damaging Het
Pias3 T C 3: 96,612,253 (GRCm39) L561P possibly damaging Het
Pomgnt1 G A 4: 116,013,453 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Sec24d T A 3: 123,099,434 (GRCm39) probably null Het
Sftpb T G 6: 72,281,640 (GRCm39) L11R probably damaging Het
Slc22a19 A G 19: 7,688,536 (GRCm39) I8T probably benign Het
Slc22a30 A G 19: 8,363,790 (GRCm39) S266P probably damaging Het
Slc36a2 C A 11: 55,050,214 (GRCm39) G465W probably damaging Het
Slc4a2 G A 5: 24,644,331 (GRCm39) M976I probably damaging Het
Smcr8 C T 11: 60,670,696 (GRCm39) Q615* probably null Het
Sobp T C 10: 43,036,815 (GRCm39) E41G probably damaging Het
Spopfm1 C T 3: 94,173,142 (GRCm39) S50L probably damaging Het
Spz1 A T 13: 92,711,554 (GRCm39) C307* probably null Het
Sult1d1 C T 5: 87,711,728 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,668 (GRCm39) M233T probably damaging Het
Tmc3 C A 7: 83,269,156 (GRCm39) S781R probably damaging Het
Tmem234 G T 4: 129,495,730 (GRCm39) probably benign Het
Trpm3 A T 19: 22,882,078 (GRCm39) Q645L probably benign Het
Ttn C A 2: 76,565,055 (GRCm39) V28391F probably damaging Het
Txnrd3 G T 6: 89,650,016 (GRCm39) A425S probably benign Het
Ubr1 C T 2: 120,793,903 (GRCm39) G94R probably benign Het
Ufl1 A G 4: 25,269,026 (GRCm39) probably null Het
Utp20 T C 10: 88,604,735 (GRCm39) D1720G probably benign Het
Vmn1r13 T A 6: 57,186,901 (GRCm39) M20K probably benign Het
Vmn1r61 A G 7: 5,613,519 (GRCm39) I265T probably benign Het
Zfp120 T C 2: 149,961,862 (GRCm39) T29A probably damaging Het
Other mutations in Pcmtd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2377:Pcmtd2 UTSW 2 181,497,072 (GRCm39) utr 3 prime probably benign
R3110:Pcmtd2 UTSW 2 181,496,922 (GRCm39) missense probably damaging 0.98
R3111:Pcmtd2 UTSW 2 181,496,922 (GRCm39) missense probably damaging 0.98
R3112:Pcmtd2 UTSW 2 181,496,922 (GRCm39) missense probably damaging 0.98
R4571:Pcmtd2 UTSW 2 181,484,217 (GRCm39) missense possibly damaging 0.65
R5137:Pcmtd2 UTSW 2 181,496,787 (GRCm39) missense possibly damaging 0.87
R5778:Pcmtd2 UTSW 2 181,496,991 (GRCm39) missense probably benign 0.00
R5861:Pcmtd2 UTSW 2 181,484,268 (GRCm39) missense probably damaging 0.96
R6841:Pcmtd2 UTSW 2 181,486,231 (GRCm39) missense probably damaging 0.99
R7063:Pcmtd2 UTSW 2 181,496,776 (GRCm39) nonsense probably null
R7407:Pcmtd2 UTSW 2 181,488,398 (GRCm39) missense possibly damaging 0.83
R7706:Pcmtd2 UTSW 2 181,496,868 (GRCm39) missense probably damaging 1.00
R7747:Pcmtd2 UTSW 2 181,493,452 (GRCm39) missense possibly damaging 0.91
R7769:Pcmtd2 UTSW 2 181,493,494 (GRCm39) missense probably benign 0.00
R7896:Pcmtd2 UTSW 2 181,496,776 (GRCm39) missense probably damaging 1.00
R8939:Pcmtd2 UTSW 2 181,496,863 (GRCm39) utr 3 prime probably benign
R9433:Pcmtd2 UTSW 2 181,496,837 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- ACACATTGAAAGACTCCCTTGGG -3'
(R):5'- GGATCATCCAACCACACTTTAACTATG -3'

Sequencing Primer
(F):5'- TTTAGAGCCACGGATATGCTAAGACC -3'
(R):5'- ACCACACTTTAACTATGTTTTCTGG -3'
Posted On 2016-06-15