Incidental Mutation 'R5166:Pm20d2'
ID 397291
Institutional Source Beutler Lab
Gene Symbol Pm20d2
Ensembl Gene ENSMUSG00000054659
Gene Name peptidase M20 domain containing 2
Synonyms LOC242377, Acy1l2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R5166 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 33174230-33189737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33181803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 267 (V267I)
Ref Sequence ENSEMBL: ENSMUSP00000113669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098181] [ENSMUST00000119167]
AlphaFold A3KG59
Predicted Effect probably benign
Transcript: ENSMUST00000098181
AA Change: V267I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095783
Gene: ENSMUSG00000054659
AA Change: V267I

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 126 141 N/A INTRINSIC
Pfam:M20_dimer 199 297 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119167
AA Change: V267I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113669
Gene: ENSMUSG00000054659
AA Change: V267I

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 126 141 N/A INTRINSIC
Pfam:M20_dimer 199 297 5.4e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,738,083 (GRCm39) T435A probably benign Het
Adcy3 T A 12: 4,184,438 (GRCm39) I38N probably damaging Het
Aff1 A G 5: 103,902,523 (GRCm39) probably benign Het
Asxl1 A G 2: 153,243,041 (GRCm39) E1197G probably damaging Het
Brinp3 T A 1: 146,777,105 (GRCm39) N517K probably damaging Het
Carmil1 C T 13: 24,338,966 (GRCm39) probably null Het
Ccdc185 G A 1: 182,576,564 (GRCm39) Q42* probably null Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh10 A G 15: 19,013,446 (GRCm39) E682G probably damaging Het
Col6a3 C A 1: 90,738,330 (GRCm39) R456L probably damaging Het
Egf C T 3: 129,529,489 (GRCm39) R307H probably benign Het
Flt4 T C 11: 49,524,084 (GRCm39) probably null Het
Fstl5 A C 3: 76,536,267 (GRCm39) K26Q possibly damaging Het
Gk5 G T 9: 96,056,821 (GRCm39) A413S probably damaging Het
Glcci1 T A 6: 8,537,854 (GRCm39) S157R probably benign Het
Gzmc G A 14: 56,471,433 (GRCm39) A36V probably damaging Het
Hexb T C 13: 97,318,512 (GRCm39) N283S probably benign Het
Hydin A G 8: 111,249,774 (GRCm39) E2239G possibly damaging Het
Igkv10-95 A T 6: 68,657,544 (GRCm39) Y20F probably benign Het
Il17re A G 6: 113,439,923 (GRCm39) T181A probably benign Het
Kcnh6 G A 11: 105,911,145 (GRCm39) A514T possibly damaging Het
Kcnk10 G A 12: 98,401,254 (GRCm39) R460W probably damaging Het
Krtap5-2 A T 7: 141,728,721 (GRCm39) S320T unknown Het
Larp1b G T 3: 40,918,487 (GRCm39) E24* probably null Het
Mettl22 A G 16: 8,296,115 (GRCm39) T135A probably benign Het
Mlh1 A G 9: 111,070,581 (GRCm39) V378A probably benign Het
Mmrn1 A T 6: 60,953,474 (GRCm39) H585L probably benign Het
Myh14 A G 7: 44,278,279 (GRCm39) F1024L probably damaging Het
Nbea A T 3: 55,926,874 (GRCm39) H776Q probably damaging Het
Nod2 A G 8: 89,390,875 (GRCm39) D372G possibly damaging Het
Nptn C T 9: 58,526,263 (GRCm39) R137* probably null Het
Or9k2 T C 10: 129,998,430 (GRCm39) Y255C possibly damaging Het
Rassf10 A G 7: 112,553,627 (GRCm39) D76G probably benign Het
Rbbp5 A G 1: 132,418,303 (GRCm39) T41A possibly damaging Het
Rttn T C 18: 89,031,218 (GRCm39) V643A possibly damaging Het
Sbno2 C A 10: 79,902,762 (GRCm39) E421* probably null Het
Slc17a3 T C 13: 24,026,525 (GRCm39) probably null Het
Slc1a6 T A 10: 78,632,103 (GRCm39) probably null Het
Slco2b1 A G 7: 99,338,220 (GRCm39) S106P possibly damaging Het
Spef1 T C 2: 131,016,511 (GRCm39) N28S probably damaging Het
Srebf2 C A 15: 82,069,603 (GRCm39) T675N probably damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Tbcd T A 11: 121,500,216 (GRCm39) L1114H possibly damaging Het
Tex15 T C 8: 34,066,420 (GRCm39) V1950A probably benign Het
Tnfsf9 T A 17: 57,413,263 (GRCm39) F148Y possibly damaging Het
Traf6 A G 2: 101,520,402 (GRCm39) D150G probably benign Het
Ttn A G 2: 76,693,717 (GRCm39) Y262H possibly damaging Het
Unc93b1 A G 19: 3,994,027 (GRCm39) Y386C probably damaging Het
Vmn1r226 A T 17: 20,908,125 (GRCm39) E119V probably benign Het
Wrn A T 8: 33,842,100 (GRCm39) probably null Het
Zfp398 A G 6: 47,842,838 (GRCm39) I165V probably benign Het
Zfp850 A T 7: 27,689,781 (GRCm39) C142* probably null Het
Other mutations in Pm20d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Pm20d2 APN 4 33,187,205 (GRCm39) splice site probably benign
IGL03184:Pm20d2 APN 4 33,179,241 (GRCm39) missense probably damaging 1.00
PIT4504001:Pm20d2 UTSW 4 33,183,152 (GRCm39) missense probably damaging 1.00
PIT4651001:Pm20d2 UTSW 4 33,181,715 (GRCm39) missense probably damaging 0.99
PIT4791001:Pm20d2 UTSW 4 33,174,756 (GRCm39) missense probably benign 0.09
R0594:Pm20d2 UTSW 4 33,181,746 (GRCm39) missense probably damaging 0.99
R0973:Pm20d2 UTSW 4 33,174,734 (GRCm39) splice site probably benign
R1584:Pm20d2 UTSW 4 33,174,772 (GRCm39) missense probably damaging 1.00
R3850:Pm20d2 UTSW 4 33,174,414 (GRCm39) missense probably damaging 0.96
R4831:Pm20d2 UTSW 4 33,179,293 (GRCm39) missense probably damaging 1.00
R6025:Pm20d2 UTSW 4 33,181,833 (GRCm39) missense probably damaging 0.98
R7030:Pm20d2 UTSW 4 33,174,752 (GRCm39) missense possibly damaging 0.65
R7109:Pm20d2 UTSW 4 33,187,186 (GRCm39) missense probably damaging 1.00
R8335:Pm20d2 UTSW 4 33,189,245 (GRCm39) missense probably benign 0.01
Z1177:Pm20d2 UTSW 4 33,181,687 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CTTTAATGCAGCAACATGAACAGC -3'
(R):5'- CGGAGGCAGTTTTCCCTTAC -3'

Sequencing Primer
(F):5'- GCAACATGAACAGCCACAG -3'
(R):5'- CTTACTAGCTGGGAAATAGGACCTC -3'
Posted On 2016-07-06