Incidental Mutation 'R5137:Pcmtd2'
ID 396190
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 042723-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5137 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181479647-181499254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 181496787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 255 (I255F)
Ref Sequence ENSEMBL: ENSMUSP00000029116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029116] [ENSMUST00000108754]
AlphaFold Q8BHD8
Predicted Effect possibly damaging
Transcript: ENSMUST00000029116
AA Change: I255F

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: I255F

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
AA Change: H256L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589
AA Change: H256L

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 unknown
Transcript: ENSMUST00000124346
AA Change: H134L
SMART Domains Protein: ENSMUSP00000115743
Gene: ENSMUSG00000027589
AA Change: H134L

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,123,920 (GRCm39) V75A probably benign Het
Ace G C 11: 105,865,652 (GRCm39) W628C probably damaging Het
Adh4 T C 3: 138,127,996 (GRCm39) S141P probably benign Het
Apob T C 12: 8,061,384 (GRCm39) Y3256H possibly damaging Het
B3galnt1 G T 3: 69,482,282 (GRCm39) N326K probably benign Het
Bltp3a T G 17: 28,095,964 (GRCm39) probably null Het
Catsperb T C 12: 101,516,070 (GRCm39) F569L probably damaging Het
Cecr2 A G 6: 120,732,478 (GRCm39) I225V probably benign Het
Cox5b A G 1: 36,731,510 (GRCm39) probably null Het
Crybg1 T C 10: 43,834,332 (GRCm39) D1953G probably damaging Het
Dnaaf5 C T 5: 139,167,215 (GRCm39) T707M probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ebf1 G A 11: 44,882,295 (GRCm39) R409Q probably damaging Het
Eef2k G A 7: 120,484,645 (GRCm39) A256T probably damaging Het
Eef2k C A 7: 120,484,646 (GRCm39) A256D probably damaging Het
Evl C G 12: 108,647,781 (GRCm39) T294S probably benign Het
Eya2 T C 2: 165,573,548 (GRCm39) Y288H probably damaging Het
Ezh2 A T 6: 47,509,014 (GRCm39) probably null Het
Fam171a1 T C 2: 3,226,426 (GRCm39) Y395H probably benign Het
Gas2l3 C A 10: 89,249,837 (GRCm39) R427L probably damaging Het
Gli2 T A 1: 118,783,233 (GRCm39) I91F probably damaging Het
Gm4884 T C 7: 40,692,318 (GRCm39) S96P probably damaging Het
Gprc5d T A 6: 135,093,031 (GRCm39) D292V probably benign Het
Herc1 A G 9: 66,355,505 (GRCm39) K2252R probably benign Het
Il1rl1 A T 1: 40,489,285 (GRCm39) M346L probably benign Het
Kcna5 A T 6: 126,510,946 (GRCm39) V394D probably damaging Het
Kcng4 A T 8: 120,352,617 (GRCm39) M431K possibly damaging Het
Kifbp A T 10: 62,414,020 (GRCm39) V46E probably damaging Het
Large1 A G 8: 73,774,937 (GRCm39) F258L possibly damaging Het
Mapkbp1 T A 2: 119,852,662 (GRCm39) C1001S probably damaging Het
Micu1 A G 10: 59,663,054 (GRCm39) Q328R probably benign Het
Mmp11 G A 10: 75,761,290 (GRCm39) P437S probably damaging Het
Msh6 T A 17: 88,287,716 (GRCm39) F119I possibly damaging Het
Myo6 A G 9: 80,149,531 (GRCm39) E159G probably damaging Het
Negr1 T A 3: 156,721,833 (GRCm39) Y136N probably damaging Het
Nol9 T A 4: 152,130,428 (GRCm39) C321S probably damaging Het
Nos1 T C 5: 118,043,378 (GRCm39) F551S probably benign Het
Nup153 C A 13: 46,837,629 (GRCm39) G1198C probably damaging Het
Omd T C 13: 49,743,552 (GRCm39) S201P probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or4c120 C A 2: 89,000,744 (GRCm39) V271F probably benign Het
Or51l14 A G 7: 103,100,919 (GRCm39) Y125C probably damaging Het
Or51l14 C A 7: 103,100,920 (GRCm39) Y125* probably null Het
Oxct1 G T 15: 4,064,832 (GRCm39) A57S probably benign Het
Pcdhga7 T G 18: 37,850,433 (GRCm39) S813R probably damaging Het
Pdk1 T G 2: 71,713,913 (GRCm39) M186R possibly damaging Het
Pelp1 T C 11: 70,285,925 (GRCm39) T648A probably damaging Het
Phldb2 A T 16: 45,628,621 (GRCm39) S570R possibly damaging Het
Pramel16 T A 4: 143,675,690 (GRCm39) T379S probably benign Het
Ptprj T C 2: 90,299,992 (GRCm39) T270A possibly damaging Het
Reln C T 5: 22,160,179 (GRCm39) G2130D probably damaging Het
Rims1 A T 1: 22,358,844 (GRCm39) Y663* probably null Het
Rit2 T C 18: 31,286,817 (GRCm39) T123A probably benign Het
Rmdn2 A T 17: 79,975,418 (GRCm39) E302D probably benign Het
Ryr1 T C 7: 28,801,283 (GRCm39) E827G possibly damaging Het
Siglec1 C T 2: 130,923,264 (GRCm39) G494R probably damaging Het
Slc16a14 T A 1: 84,890,318 (GRCm39) Y329F probably damaging Het
Slc35d1 A T 4: 103,071,978 (GRCm39) L8Q possibly damaging Het
Smpdl3a C T 10: 57,677,163 (GRCm39) S57L possibly damaging Het
Snx9 T C 17: 5,978,528 (GRCm39) V566A probably damaging Het
Spaca1 A T 4: 34,029,095 (GRCm39) I126N probably damaging Het
Spred1 T G 2: 116,994,052 (GRCm39) I94S probably damaging Het
Tardbp T C 4: 148,706,494 (GRCm39) D105G possibly damaging Het
Tet2 T C 3: 133,182,326 (GRCm39) S1213G probably benign Het
Trak1 A T 9: 121,196,121 (GRCm39) probably benign Het
Trem3 G A 17: 48,556,756 (GRCm39) V76M possibly damaging Het
Ttc13 G T 8: 125,421,674 (GRCm39) Y250* probably null Het
Ttll5 T G 12: 85,969,819 (GRCm39) S714R possibly damaging Het
Ube2l6 T G 2: 84,633,220 (GRCm39) probably null Het
Ubr3 T C 2: 69,803,679 (GRCm39) S1090P probably damaging Het
Vezt T C 10: 93,806,372 (GRCm39) T680A probably benign Het
Virma A G 4: 11,546,297 (GRCm39) K1762E probably damaging Het
Vps53 A G 11: 76,057,074 (GRCm39) S57P probably damaging Het
Vwa7 G T 17: 35,236,822 (GRCm39) D130Y probably damaging Het
Vwa8 T G 14: 79,302,342 (GRCm39) F1004V probably damaging Het
Zfp35 A T 18: 24,137,194 (GRCm39) K513* probably null Het
Zfp384 ACAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGC 6: 125,013,472 (GRCm39) probably benign Het
Zfp521 C A 18: 13,978,505 (GRCm39) C636F 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
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'- GTGTGGTGCAAAGTAGACCATTG -3'
(R):5'- GCTTGGTCTCCTGTAAGGTC -3'

Sequencing Primer
(F):5'- GTGCAAAGTAGACCATTGGTTCC -3'
(R):5'- TGTAAGGTCCTCTCTGCCAC -3'
Posted On 2016-06-21