Incidental Mutation 'R4571:Pcmtd2'
ID 342128
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 041795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4571 (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 181484217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 9 (E9G)
Ref Sequence ENSEMBL: ENSMUSP00000104385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029116] [ENSMUST00000108754] [ENSMUST00000139434]
AlphaFold Q8BHD8
Predicted Effect probably benign
Transcript: ENSMUST00000029116
AA Change: E9G

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: E9G

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 possibly damaging
Transcript: ENSMUST00000108754
AA Change: E9G

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589
AA Change: E9G

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 benign
Transcript: ENSMUST00000139434
AA Change: E9G

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115096
Gene: ENSMUSG00000027589
AA Change: E9G

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 0.2062 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,920,884 (GRCm39) C1497S probably damaging Het
Acoxl G T 2: 127,719,727 (GRCm39) G163W probably damaging Het
Apbb1 T A 7: 105,222,969 (GRCm39) N214I probably damaging Het
Apol7b T C 15: 77,307,734 (GRCm39) K254E probably benign Het
Arl4d T A 11: 101,557,969 (GRCm39) V165E possibly damaging Het
Brca1 C A 11: 101,408,192 (GRCm39) R1377L probably benign Het
Btf3 A G 13: 98,449,792 (GRCm39) F65L probably benign Het
C2 T C 17: 35,082,635 (GRCm39) N495D probably benign Het
Cacna1c T C 6: 118,607,341 (GRCm39) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm39) D796E probably benign Het
Clasp2 G T 9: 113,676,789 (GRCm39) L173F probably damaging Het
Clec4g A T 8: 3,768,766 (GRCm39) probably null Het
Col9a3 T C 2: 180,258,159 (GRCm39) probably benign Het
Csmd2 T A 4: 128,373,888 (GRCm39) probably null Het
Ddx11 T C 17: 66,437,768 (GRCm39) C165R probably benign Het
Dnah7c A C 1: 46,572,376 (GRCm39) M950L probably damaging Het
Dusp23 A C 1: 172,460,181 (GRCm39) probably null Het
Ebag9 A T 15: 44,500,158 (GRCm39) probably null Het
Edn3 G A 2: 174,623,697 (GRCm39) A211T probably benign Het
Eif3e G A 15: 43,129,558 (GRCm39) T190I possibly damaging Het
Fam76a T C 4: 132,648,208 (GRCm39) H3R possibly damaging Het
Gabbr1 G T 17: 37,365,128 (GRCm39) E138* probably null Het
Galc T C 12: 98,188,876 (GRCm39) T412A probably benign Het
Gimap3 T C 6: 48,742,654 (GRCm39) D92G possibly damaging Het
Gin1 T C 1: 97,712,801 (GRCm39) Y285H probably damaging Het
Gm4868 A G 5: 125,925,782 (GRCm39) noncoding transcript Het
Gm7052 T A 17: 22,259,405 (GRCm39) probably benign Het
Gpcpd1 T A 2: 132,392,270 (GRCm39) E226D probably benign Het
Hoxb4 T C 11: 96,209,992 (GRCm39) S133P possibly damaging Het
Hrg C T 16: 22,779,972 (GRCm39) probably benign Het
Insrr A G 3: 87,708,194 (GRCm39) K212R probably benign Het
Ipp A G 4: 116,387,655 (GRCm39) D411G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 A G 15: 65,902,461 (GRCm39) F172L probably damaging Het
Kdm5d T C Y: 927,110 (GRCm39) F616S probably damaging Het
Lars1 T C 18: 42,361,295 (GRCm39) probably null Het
Lmo7 G T 14: 102,125,030 (GRCm39) Q496H probably damaging Het
Map3k9 C A 12: 81,780,865 (GRCm39) A432S probably benign Het
Nop2 T G 6: 125,117,844 (GRCm39) probably null Het
Nup50l T A 6: 96,141,862 (GRCm39) N394I probably damaging Het
Or10ag53 C A 2: 87,082,802 (GRCm39) Q174K possibly damaging Het
Or2h2 T C 17: 37,396,471 (GRCm39) I195M probably damaging Het
Or5m11b A T 2: 85,806,175 (GRCm39) E196V probably damaging Het
Or6k2 A T 1: 173,986,494 (GRCm39) N52Y possibly damaging Het
Pan2 A G 10: 128,144,512 (GRCm39) T187A probably benign Het
Pik3cb T A 9: 98,972,310 (GRCm39) I283F possibly damaging Het
Pkhd1 G A 1: 20,683,633 (GRCm39) T40I probably damaging Het
Plxna2 T C 1: 194,493,296 (GRCm39) V1857A possibly damaging Het
Polg T C 7: 79,110,127 (GRCm39) S334G probably damaging Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Slc6a18 A T 13: 73,814,489 (GRCm39) N468K possibly damaging Het
Slco4a1 A T 2: 180,106,171 (GRCm39) T118S probably benign Het
Smg1 A T 7: 117,738,688 (GRCm39) N3520K possibly damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Topaz1 A G 9: 122,576,501 (GRCm39) T31A probably benign Het
Trpv6 C T 6: 41,598,678 (GRCm39) R649H probably damaging Het
Vmn1r188 A G 13: 22,272,688 (GRCm39) Y214C probably benign Het
Vps8 T A 16: 21,254,525 (GRCm39) I59N probably damaging Het
Wnt9a T C 11: 59,222,163 (GRCm39) C354R probably damaging Het
Zcchc2 A G 1: 105,958,987 (GRCm39) T1153A possibly damaging Het
Zfp30 A G 7: 29,492,627 (GRCm39) R294G probably damaging Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp62 A C 11: 49,106,568 (GRCm39) S220R probably damaging Het
Zfp62 G T 11: 49,106,569 (GRCm39) S220I probably damaging Het
Zp3r A G 1: 130,505,757 (GRCm39) S423P 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
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'- AATACTGGCATCTTTGGAGGG -3'
(R):5'- TCCATCACCTCCGAGTAGATG -3'

Sequencing Primer
(F):5'- ATACTGGCATCTTTGGAGGGTGAAG -3'
(R):5'- ACCTCCGAGTAGATGCACGG -3'
Posted On 2015-09-24