Incidental Mutation 'R6880:Pm20d1'
ID 536591
Institutional Source Beutler Lab
Gene Symbol Pm20d1
Ensembl Gene ENSMUSG00000042251
Gene Name peptidase M20 domain containing 1
Synonyms 4732466D17Rik
MMRRC Submission 044976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6880 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131725122-131749210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131731839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 294 (K294E)
Ref Sequence ENSEMBL: ENSMUSP00000108012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048660] [ENSMUST00000112393]
AlphaFold Q8C165
Predicted Effect probably benign
Transcript: ENSMUST00000048660
AA Change: K294E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: K294E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Peptidase_M20 121 489 3.5e-34 PFAM
Pfam:M20_dimer 240 389 5.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112393
AA Change: K294E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: K294E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Peptidase_M20 121 489 7e-33 PFAM
Pfam:M20_dimer 240 389 5.7e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,123,854 (GRCm39) probably null Het
Aff3 T C 1: 38,574,243 (GRCm39) H206R probably damaging Het
Aff3 T C 1: 38,666,209 (GRCm39) D5G possibly damaging Het
Alg5 A G 3: 54,646,264 (GRCm39) E43G probably damaging Het
Ankrd36 T C 11: 5,578,748 (GRCm39) L4P probably damaging Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Atf7ip A G 6: 136,538,038 (GRCm39) I432V probably damaging Het
B230307C23Rik T C 16: 97,798,627 (GRCm39) probably benign Het
Baz2b T A 2: 59,743,283 (GRCm39) N1563Y probably damaging Het
Bhlha15 A T 5: 144,128,451 (GRCm39) T188S probably damaging Het
Cbr3 T C 16: 93,487,426 (GRCm39) V203A probably benign Het
Cpsf1 T C 15: 76,486,739 (GRCm39) T266A probably benign Het
Dnah7c T C 1: 46,566,831 (GRCm39) Y681H probably damaging Het
Dock2 C T 11: 34,579,279 (GRCm39) probably null Het
Dsc1 T A 18: 20,221,429 (GRCm39) D682V probably damaging Het
Fkbp15 A T 4: 62,254,732 (GRCm39) I256N possibly damaging Het
Foxd1 A C 13: 98,491,225 (GRCm39) D33A unknown Het
Gid4 T A 11: 60,327,261 (GRCm39) F149I probably damaging Het
Hmcn2 G T 2: 31,233,068 (GRCm39) V206L probably damaging Het
Ighg2b T C 12: 113,270,726 (GRCm39) I135V Het
Ighv1-24 T C 12: 114,736,663 (GRCm39) Y79C possibly damaging Het
Impg1 T A 9: 80,312,082 (GRCm39) D167V probably damaging Het
Jakmip1 T C 5: 37,262,967 (GRCm39) S372P possibly damaging Het
Kcnb1 T C 2: 166,947,727 (GRCm39) T374A probably damaging Het
Lrrn4 A G 2: 132,714,032 (GRCm39) S305P probably damaging Het
Ltbp1 C T 17: 75,628,044 (GRCm39) T1179I possibly damaging Het
Mab21l2 A G 3: 86,454,463 (GRCm39) I179T possibly damaging Het
Myo5b A T 18: 74,855,501 (GRCm39) H1230L probably benign Het
Myocos T C 1: 162,484,602 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,999 (GRCm39) T249A probably damaging Het
Oas1a C A 5: 121,040,003 (GRCm39) R196L probably damaging Het
Or2ag18 A T 7: 106,405,019 (GRCm39) S217T probably damaging Het
Or5an11 A G 19: 12,245,974 (GRCm39) I127V probably benign Het
Or8k41 A G 2: 86,314,069 (GRCm39) F6L probably benign Het
Phxr2 G A 10: 98,961,946 (GRCm39) probably benign Het
Pigq A G 17: 26,153,802 (GRCm39) L85P probably damaging Het
Pla2g4a T A 1: 149,727,202 (GRCm39) D518V possibly damaging Het
Polr3d C A 14: 70,677,455 (GRCm39) R307L probably benign Het
Pou5f2 T C 13: 78,173,613 (GRCm39) L185P possibly damaging Het
Prex2 A T 1: 11,202,608 (GRCm39) N506Y probably damaging Het
Proser1 T A 3: 53,385,260 (GRCm39) S381T probably benign Het
Prpf4b T C 13: 35,078,436 (GRCm39) V682A possibly damaging Het
Prr14l A T 5: 32,988,211 (GRCm39) L428Q probably benign Het
Prss23 A G 7: 89,160,033 (GRCm39) V12A probably benign Het
Qki T C 17: 10,434,376 (GRCm39) D321G probably benign Het
Rab11fip5 A G 6: 85,325,827 (GRCm39) L193P probably damaging Het
Retreg1 T G 15: 25,971,825 (GRCm39) L245R probably damaging Het
Rfc1 T C 5: 65,434,729 (GRCm39) N679S probably benign Het
Rpl4 C T 9: 64,084,335 (GRCm39) A220V probably damaging Het
Rxra G A 2: 27,638,668 (GRCm39) E224K possibly damaging Het
Slc26a7 A G 4: 14,516,159 (GRCm39) C557R possibly damaging Het
Sncaip A G 18: 53,002,136 (GRCm39) K219R probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sphkap A G 1: 83,234,978 (GRCm39) V1616A probably damaging Het
Sulf1 T C 1: 12,912,979 (GRCm39) C738R probably damaging Het
Suz12 T A 11: 79,892,998 (GRCm39) C38* probably null Het
Ttn T C 2: 76,550,842 (GRCm39) T23190A probably damaging Het
Twnk A G 19: 44,995,855 (GRCm39) D96G probably benign Het
Vcan T A 13: 89,860,500 (GRCm39) N289I probably damaging Het
Vmn2r120 A T 17: 57,816,187 (GRCm39) S723T probably damaging Het
Vmn2r97 A T 17: 19,134,770 (GRCm39) I63F probably benign Het
Washc5 T C 15: 59,222,021 (GRCm39) N125S probably benign Het
Zfp865 A G 7: 5,033,548 (GRCm39) Y511C probably damaging Het
Other mutations in Pm20d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Pm20d1 APN 1 131,741,738 (GRCm39) splice site probably benign
IGL02026:Pm20d1 APN 1 131,729,497 (GRCm39) nonsense probably null
IGL02684:Pm20d1 APN 1 131,732,697 (GRCm39) missense probably benign 0.01
R1725:Pm20d1 UTSW 1 131,743,796 (GRCm39) missense probably damaging 1.00
R1808:Pm20d1 UTSW 1 131,730,165 (GRCm39) missense probably benign 0.02
R2010:Pm20d1 UTSW 1 131,739,852 (GRCm39) missense probably benign 0.02
R4663:Pm20d1 UTSW 1 131,726,340 (GRCm39) missense probably damaging 1.00
R4790:Pm20d1 UTSW 1 131,739,777 (GRCm39) missense probably benign 0.08
R5211:Pm20d1 UTSW 1 131,734,647 (GRCm39) missense possibly damaging 0.90
R5578:Pm20d1 UTSW 1 131,743,760 (GRCm39) missense probably benign 0.01
R6314:Pm20d1 UTSW 1 131,743,754 (GRCm39) missense possibly damaging 0.82
R6410:Pm20d1 UTSW 1 131,726,334 (GRCm39) missense probably benign 0.30
R7128:Pm20d1 UTSW 1 131,725,292 (GRCm39) missense probably benign 0.01
R8088:Pm20d1 UTSW 1 131,729,501 (GRCm39) missense probably benign 0.37
R8922:Pm20d1 UTSW 1 131,728,853 (GRCm39) missense possibly damaging 0.94
R8942:Pm20d1 UTSW 1 131,739,785 (GRCm39) missense possibly damaging 0.93
R9026:Pm20d1 UTSW 1 131,739,822 (GRCm39) missense probably benign 0.04
R9093:Pm20d1 UTSW 1 131,743,753 (GRCm39) missense probably benign 0.16
R9094:Pm20d1 UTSW 1 131,730,481 (GRCm39) missense possibly damaging 0.69
R9165:Pm20d1 UTSW 1 131,743,825 (GRCm39) missense possibly damaging 0.64
R9189:Pm20d1 UTSW 1 131,730,115 (GRCm39) missense probably damaging 1.00
R9562:Pm20d1 UTSW 1 131,730,501 (GRCm39) missense probably damaging 0.99
Z1176:Pm20d1 UTSW 1 131,725,296 (GRCm39) missense possibly damaging 0.89
Z1177:Pm20d1 UTSW 1 131,729,006 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- TGACTCTTCAGCTCGGGTTG -3'
(R):5'- CTATGTCCCGTGAGCTTCAGAC -3'

Sequencing Primer
(F):5'- CAGCTCGGGTTGGTGGG -3'
(R):5'- AAGCCCTTTCTTGACTAAGCGG -3'
Posted On 2018-10-18