Incidental Mutation 'R3112:Pcmtd2'
ID 263723
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 040585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R3112 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 181479647-181499254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 181496922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 300 (I300F)
Ref Sequence ENSEMBL: ENSMUSP00000029116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029116] [ENSMUST00000108754]
AlphaFold Q8BHD8
Predicted Effect probably damaging
Transcript: ENSMUST00000029116
AA Change: I300F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: I300F

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 benign
Transcript: ENSMUST00000108754
SMART Domains Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589

DomainStartEndE-ValueType
Pfam:PCMT 9 215 2.1e-28 PFAM
Pfam:DOT1 58 158 1.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122811
Predicted Effect probably benign
Transcript: ENSMUST00000124346
SMART Domains Protein: ENSMUSP00000115743
Gene: ENSMUSG00000027589

DomainStartEndE-ValueType
Pfam:PCMT 8 103 4.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145475
Meta Mutation Damage Score 0.0757 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pfkfb4 C T 9: 108,854,110 (GRCm39) probably benign Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly 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
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
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'- GTCCTTTCAGCAAGTTAGATGTGG -3'
(R):5'- TGTACCTGGCCAGCAGTTTC -3'

Sequencing Primer
(F):5'- CAGCAAGTTAGATGTGGGTTGGC -3'
(R):5'- CACTTTTCCCTGTAATACAGCAGG -3'
Posted On 2015-02-05