Incidental Mutation 'R5861:Pcmtd2'
ID 453888
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 044073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5861 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 181479647-181499254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 181484268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 26 (T26K)
Ref Sequence ENSEMBL: ENSMUSP00000104385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029116] [ENSMUST00000108754] [ENSMUST00000139434]
AlphaFold Q8BHD8
Predicted Effect possibly damaging
Transcript: ENSMUST00000029116
AA Change: T26K

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: T26K

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: T26K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589
AA Change: T26K

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 possibly damaging
Transcript: ENSMUST00000139434
AA Change: T26K

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115096
Gene: ENSMUSG00000027589
AA Change: T26K

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,644 (GRCm39) T246N probably damaging Het
Aopep A G 13: 63,446,626 (GRCm39) D143G probably damaging Het
Arhgap10 C T 8: 78,037,393 (GRCm39) A612T probably damaging Het
Arsg T A 11: 109,454,014 (GRCm39) F407I probably damaging Het
Asxl1 C A 2: 153,241,310 (GRCm39) A620D probably damaging Het
C2cd3 A G 7: 100,093,682 (GRCm39) probably benign Het
Chn2 G A 6: 54,267,359 (GRCm39) V92I probably damaging Het
Cog2 T C 8: 125,264,617 (GRCm39) F332S probably damaging Het
Crhbp G A 13: 95,580,333 (GRCm39) A82V probably damaging Het
Cyp2j6 A G 4: 96,434,040 (GRCm39) V90A possibly damaging Het
Dennd4c A T 4: 86,709,589 (GRCm39) M397L probably benign Het
Dnajb8 A G 6: 88,200,088 (GRCm39) D208G possibly damaging Het
Ecm1 G C 3: 95,643,909 (GRCm39) L230V probably damaging Het
Ercc2 G C 7: 19,128,066 (GRCm39) A696P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm13035 A G 4: 146,009,859 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,865,116 (GRCm39) V247A probably damaging Het
Gm28455 T A 7: 39,148,003 (GRCm39) noncoding transcript Het
Gpr150 A T 13: 76,204,192 (GRCm39) V251D possibly damaging Het
Grip1 C T 10: 119,765,875 (GRCm39) S69L probably damaging Het
Hs6st3 A G 14: 119,376,265 (GRCm39) I147V possibly damaging Het
Il5 G A 11: 53,614,743 (GRCm39) E102K probably benign Het
Kif1c T C 11: 70,594,621 (GRCm39) F94L probably damaging Het
Lrrc63 T C 14: 75,344,806 (GRCm39) E427G possibly damaging Het
Man1b1 A G 2: 25,238,066 (GRCm39) T384A probably benign Het
Mapk15 C A 15: 75,868,208 (GRCm39) probably benign Het
Mfsd10 T C 5: 34,791,588 (GRCm39) probably benign Het
Mgat5 C A 1: 127,315,129 (GRCm39) A285E probably damaging Het
Mroh4 T A 15: 74,478,456 (GRCm39) probably benign Het
Myf5 A T 10: 107,320,069 (GRCm39) C194S probably benign Het
Myh7 A G 14: 55,226,347 (GRCm39) V431A possibly damaging Het
Nadsyn1 A C 7: 143,364,964 (GRCm39) M247R possibly damaging Het
Nipsnap3b A G 4: 53,021,177 (GRCm39) D166G probably damaging Het
Nqo2 A T 13: 34,156,413 (GRCm39) L42F probably damaging Het
Nt5dc3 A T 10: 86,651,738 (GRCm39) D180V probably damaging Het
Numa1 C A 7: 101,658,494 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,052 (GRCm39) L328Q probably damaging Het
Or4e1 T C 14: 52,700,953 (GRCm39) Y171C probably damaging Het
Or5w17 A T 2: 87,583,922 (GRCm39) N138K probably benign Het
Or7a37 A T 10: 78,805,765 (GRCm39) Y94F probably damaging Het
Papolb T C 5: 142,514,992 (GRCm39) N217S possibly damaging Het
Pld5 T G 1: 175,917,571 (GRCm39) N59H probably damaging Het
Ppm1d T C 11: 85,202,674 (GRCm39) S126P possibly damaging Het
Ppp1r21 T C 17: 88,889,937 (GRCm39) L727P probably damaging Het
Pramel20 G T 4: 143,297,810 (GRCm39) V77L probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Rara T A 11: 98,858,987 (GRCm39) C148* probably null Het
Rexo2 A T 9: 48,386,481 (GRCm39) I83N probably damaging Het
Rnf213 A G 11: 119,364,203 (GRCm39) R4501G probably damaging Het
Rps5 T A 7: 12,659,501 (GRCm39) F97L probably damaging Het
Sigirr G A 7: 140,671,292 (GRCm39) R397W probably damaging Het
Slc6a6 T C 6: 91,718,014 (GRCm39) Y318H probably damaging Het
Spam1 A G 6: 24,796,570 (GRCm39) T174A probably benign Het
Stam2 G T 2: 52,632,116 (GRCm39) probably benign Het
Taar7a T C 10: 23,868,337 (GRCm39) E348G probably benign Het
Taf11 T C 17: 28,120,644 (GRCm39) T209A probably benign Het
Tenm4 A G 7: 96,492,424 (GRCm39) probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Uevld A T 7: 46,576,104 (GRCm39) S461T probably benign Het
Vmn2r6 T A 3: 64,463,454 (GRCm39) N460I probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zfp316 T C 5: 143,249,095 (GRCm39) Y180C unknown Het
Zfp941 A G 7: 140,392,052 (GRCm39) S436P probably damaging Het
Zfp979 G A 4: 147,697,966 (GRCm39) Q248* probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N 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
R5108:Pcmtd2 UTSW 2 181,486,216 (GRCm39) missense probably damaging 1.00
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
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'- CAATACTGGCATCTTTGGAGGG -3'
(R):5'- TTCAGAAATGAAAGCCCAGGC -3'

Sequencing Primer
(F):5'- GTTATTGACAAAACATACTCCCGTC -3'
(R):5'- AGGCTGCAGATCCAGAGC -3'
Posted On 2017-02-10