Incidental Mutation 'R6384:Amz2'
ID515513
Institutional Source Beutler Lab
Gene Symbol Amz2
Ensembl Gene ENSMUSG00000020610
Gene Namearchaelysin family metallopeptidase 2
SynonymsESTM12
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6384 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location109425946-109452813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109429034 bp
ZygosityHeterozygous
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]
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: 121,652,003 T97S probably benign Het
Adam34 T A 8: 43,650,799 D603V probably benign Het
Adamts5 C T 16: 85,862,828 V859I probably benign Het
Alb T A 5: 90,472,640 D536E possibly damaging Het
Asxl1 T C 2: 153,391,824 probably null Het
Bach1 C T 16: 87,719,857 Q429* probably null Het
Bcl6 A G 16: 23,974,865 Y111H probably damaging Het
Ccnj T C 19: 40,846,007 V338A probably benign Het
Cdca3 C T 6: 124,832,419 P174L probably damaging Het
Cdk17 T C 10: 93,211,965 L25P probably damaging Het
Cdr2 G A 7: 120,982,128 probably null Het
Cyp2c38 A T 19: 39,392,293 probably null Het
Ednra T C 8: 77,689,094 N175D probably damaging Het
Elp3 T C 14: 65,560,211 Y337C probably damaging Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Eps15l1 A T 8: 72,368,710 probably null Het
F11r A G 1: 171,460,940 N117S probably benign Het
Foxp2 C T 6: 15,437,948 T716I probably damaging Het
Gnaq A G 19: 16,316,013 probably null Het
Gpat2 G C 2: 127,431,918 G294R possibly damaging Het
Gpr158 T C 2: 21,826,288 M733T probably damaging Het
Hdac7 G A 15: 97,811,506 Q48* probably null Het
Hmga2 G A 10: 120,370,707 probably benign Het
Itgb7 A G 15: 102,224,451 V142A probably benign Het
Kif5a T C 10: 127,242,775 N334D probably damaging Het
Lrrc47 T C 4: 154,015,860 S298P probably benign Het
Map3k1 A T 13: 111,750,530 S1415R probably damaging Het
Mdn1 T A 4: 32,670,607 L424Q probably damaging Het
Numb A C 12: 83,803,974 L154R probably damaging Het
Olfr1076 A G 2: 86,509,037 K193E probably benign Het
Olfr944 T C 9: 39,217,978 V207A probably benign Het
Pdcd5 G T 7: 35,646,909 A92E possibly damaging Het
Pdcl2 C T 5: 76,331,008 probably null Het
Rbfa T C 18: 80,192,781 Y251C probably damaging Het
Rgsl1 G A 1: 153,827,545 T120I possibly damaging Het
Serpina3g A G 12: 104,240,396 Q152R probably null Het
Setx T C 2: 29,173,558 S2289P probably damaging Het
Slc6a16 A G 7: 45,257,593 probably null Het
Slco1a6 C T 6: 142,109,379 D280N probably benign Het
Syde2 T A 3: 145,998,813 Y240N probably damaging Het
Synpo2 G A 3: 123,113,049 Q873* probably null Het
Tlr2 A G 3: 83,836,994 V594A probably benign Het
Ttc16 C T 2: 32,767,549 A512T probably damaging Het
Tubb5 T C 17: 35,838,046 E3G probably damaging Het
Vmn2r112 T C 17: 22,605,155 Y464H probably damaging Het
Xcr1 T A 9: 123,855,782 H305L probably damaging Het
Yars T G 4: 129,196,978 probably null Het
Other mutations in Amz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Amz2 APN 11 109434021 missense probably damaging 0.97
IGL02454:Amz2 APN 11 109434061 splice site probably benign
IGL03163:Amz2 APN 11 109428925 missense probably benign 0.00
BB004:Amz2 UTSW 11 109429058 missense not run
BB014:Amz2 UTSW 11 109429058 missense not run
R0546:Amz2 UTSW 11 109433954 missense probably benign
R1617:Amz2 UTSW 11 109434024 missense probably benign 0.11
R1913:Amz2 UTSW 11 109428871 missense probably damaging 0.96
R2179:Amz2 UTSW 11 109429832 missense probably damaging 1.00
R4291:Amz2 UTSW 11 109434055 critical splice donor site probably null
R4722:Amz2 UTSW 11 109434631 missense probably damaging 1.00
R5797:Amz2 UTSW 11 109427079 start gained probably benign
R5845:Amz2 UTSW 11 109433929 missense probably damaging 1.00
R6341:Amz2 UTSW 11 109428827 missense probably benign 0.10
R7698:Amz2 UTSW 11 109429007 missense probably damaging 0.98
R7896:Amz2 UTSW 11 109436587 missense possibly damaging 0.80
R7979:Amz2 UTSW 11 109436587 missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- AGTGCTTGTGTCACAGTATGAG -3'
(R):5'- AAAGCTGCCCTTCGTTACAC -3'

Sequencing Primer
(F):5'- TGTCACAGTATGAGAAGTTAGATGC -3'
(R):5'- ATCTAACATACTTAGGGCCCTGGG -3'
Posted On2018-05-04