Incidental Mutation 'R6384:Amz2'
ID 515513
Institutional Source Beutler Lab
Gene Symbol Amz2
Ensembl Gene ENSMUSG00000020610
Gene Name archaelysin family metallopeptidase 2
Synonyms ESTM12
MMRRC Submission 044533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6384 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 109316772-109328974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109319860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 82 (Y82C)
Ref Sequence ENSEMBL: ENSMUSP00000099350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000092500] [ENSMUST00000103061]
AlphaFold Q400C8
Predicted Effect probably damaging
Transcript: ENSMUST00000020929
AA Change: Y82C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
AA Change: Y82C

DomainStartEndE-ValueType
Pfam:Peptidase_M54 220 302 7.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092500
AA Change: Y82C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
AA Change: Y82C

DomainStartEndE-ValueType
Pfam:Peptidase_M54 232 302 2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103061
AA Change: Y82C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
AA Change: Y82C

DomainStartEndE-ValueType
Pfam:Peptidase_M54 232 302 2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155036
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,790,066 (GRCm39) T97S probably benign Het
Adam34 T A 8: 44,103,836 (GRCm39) D603V probably benign Het
Adamts5 C T 16: 85,659,716 (GRCm39) V859I probably benign Het
Alb T A 5: 90,620,499 (GRCm39) D536E possibly damaging Het
Asxl1 T C 2: 153,233,744 (GRCm39) probably null Het
Bach1 C T 16: 87,516,745 (GRCm39) Q429* probably null Het
Bcl6 A G 16: 23,793,615 (GRCm39) Y111H probably damaging Het
Ccnj T C 19: 40,834,451 (GRCm39) V338A probably benign Het
Cdca3 C T 6: 124,809,382 (GRCm39) P174L probably damaging Het
Cdk17 T C 10: 93,047,827 (GRCm39) L25P probably damaging Het
Cdr2 G A 7: 120,581,351 (GRCm39) probably null Het
Cyp2c38 A T 19: 39,380,737 (GRCm39) probably null Het
Ednra T C 8: 78,415,723 (GRCm39) N175D probably damaging Het
Elp3 T C 14: 65,797,660 (GRCm39) Y337C probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eps15l1 A T 8: 73,122,554 (GRCm39) probably null Het
F11r A G 1: 171,288,508 (GRCm39) N117S probably benign Het
Foxp2 C T 6: 15,437,947 (GRCm39) T716I probably damaging Het
Gnaq A G 19: 16,293,377 (GRCm39) probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr158 T C 2: 21,831,099 (GRCm39) M733T probably damaging Het
Hdac7 G A 15: 97,709,387 (GRCm39) Q48* probably null Het
Hmga2 G A 10: 120,206,612 (GRCm39) probably benign Het
Itgb7 A G 15: 102,132,886 (GRCm39) V142A probably benign Het
Kif5a T C 10: 127,078,644 (GRCm39) N334D probably damaging Het
Lrrc47 T C 4: 154,100,317 (GRCm39) S298P probably benign Het
Map3k1 A T 13: 111,887,064 (GRCm39) S1415R probably damaging Het
Mdn1 T A 4: 32,670,607 (GRCm39) L424Q probably damaging Het
Numb A C 12: 83,850,748 (GRCm39) L154R probably damaging Het
Or8g27 T C 9: 39,129,274 (GRCm39) V207A probably benign Het
Or8k30 A G 2: 86,339,381 (GRCm39) K193E probably benign Het
Pdcd5 G T 7: 35,346,334 (GRCm39) A92E possibly damaging Het
Pdcl2 C T 5: 76,478,855 (GRCm39) probably null Het
Rbfa T C 18: 80,235,996 (GRCm39) Y251C probably damaging Het
Rgsl1 G A 1: 153,703,291 (GRCm39) T120I possibly damaging Het
Serpina3g A G 12: 104,206,655 (GRCm39) Q152R probably null Het
Setx T C 2: 29,063,570 (GRCm39) S2289P probably damaging Het
Slc6a16 A G 7: 44,907,017 (GRCm39) probably null Het
Slco1a6 C T 6: 142,055,105 (GRCm39) D280N probably benign Het
Syde2 T A 3: 145,704,568 (GRCm39) Y240N probably damaging Het
Synpo2 G A 3: 122,906,698 (GRCm39) Q873* probably null Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Ttc16 C T 2: 32,657,561 (GRCm39) A512T probably damaging Het
Tubb5 T C 17: 36,148,938 (GRCm39) E3G probably damaging Het
Vmn2r112 T C 17: 22,824,136 (GRCm39) Y464H probably damaging Het
Xcr1 T A 9: 123,684,847 (GRCm39) H305L probably damaging Het
Yars1 T G 4: 129,090,771 (GRCm39) probably null Het
Other mutations in Amz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Amz2 APN 11 109,324,847 (GRCm39) missense probably damaging 0.97
IGL02454:Amz2 APN 11 109,324,887 (GRCm39) splice site probably benign
IGL03163:Amz2 APN 11 109,319,751 (GRCm39) missense probably benign 0.00
BB004:Amz2 UTSW 11 109,319,884 (GRCm39) missense probably damaging 0.96
BB014:Amz2 UTSW 11 109,319,884 (GRCm39) missense probably damaging 0.96
R0546:Amz2 UTSW 11 109,324,780 (GRCm39) missense probably benign
R1617:Amz2 UTSW 11 109,324,850 (GRCm39) missense probably benign 0.11
R1913:Amz2 UTSW 11 109,319,697 (GRCm39) missense probably damaging 0.96
R2179:Amz2 UTSW 11 109,320,658 (GRCm39) missense probably damaging 1.00
R4291:Amz2 UTSW 11 109,324,881 (GRCm39) critical splice donor site probably null
R4722:Amz2 UTSW 11 109,325,457 (GRCm39) missense probably damaging 1.00
R5797:Amz2 UTSW 11 109,317,905 (GRCm39) start gained probably benign
R5845:Amz2 UTSW 11 109,324,755 (GRCm39) missense probably damaging 1.00
R6341:Amz2 UTSW 11 109,319,653 (GRCm39) missense probably benign 0.10
R7698:Amz2 UTSW 11 109,319,833 (GRCm39) missense probably damaging 0.98
R7896:Amz2 UTSW 11 109,327,413 (GRCm39) missense possibly damaging 0.80
R7927:Amz2 UTSW 11 109,319,884 (GRCm39) missense probably damaging 0.96
R9688:Amz2 UTSW 11 109,320,765 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGCTTGTGTCACAGTATGAG -3'
(R):5'- AAAGCTGCCCTTCGTTACAC -3'

Sequencing Primer
(F):5'- TGTCACAGTATGAGAAGTTAGATGC -3'
(R):5'- ATCTAACATACTTAGGGCCCTGGG -3'
Posted On 2018-05-04