Incidental Mutation 'R5797:Amz2'
ID447285
Institutional Source Beutler Lab
Gene Symbol Amz2
Ensembl Gene ENSMUSG00000020610
Gene Namearchaelysin family metallopeptidase 2
SynonymsESTM12
MMRRC Submission 043209-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5797 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location109425946-109452813 bp(+) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) G to T at 109427079 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000092500] [ENSMUST00000103061]
Predicted Effect probably benign
Transcript: ENSMUST00000020929
SMART Domains Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610

DomainStartEndE-ValueType
Pfam:Peptidase_M54 220 302 7.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092500
SMART Domains Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610

DomainStartEndE-ValueType
Pfam:Peptidase_M54 232 302 2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103061
SMART Domains Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610

DomainStartEndE-ValueType
Pfam:Peptidase_M54 232 302 2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125108
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A T 8: 36,498,415 K30* probably null Het
Abhd18 T C 3: 40,933,551 F277L probably benign Het
Acsf2 A G 11: 94,571,679 V170A probably damaging Het
Atp4a A G 7: 30,712,649 Y65C probably damaging Het
Canx T C 11: 50,301,017 I356V probably benign Het
Cfap54 T A 10: 92,967,576 T1535S probably benign Het
Cts3 A T 13: 61,568,392 W52R probably damaging Het
Cyb5rl A T 4: 107,084,207 E276D possibly damaging Het
Dhx30 T C 9: 110,098,820 N78S probably damaging Het
Dmap1 A T 4: 117,675,480 V333E possibly damaging Het
Dnah10 A G 5: 124,821,386 E3744G probably benign Het
Efcab6 C T 15: 83,924,277 C828Y possibly damaging Het
Fam227b A C 2: 126,007,334 I326S probably benign Het
Fbrs C A 7: 127,487,291 H604Q probably damaging Het
Fshr T G 17: 89,011,075 N129T probably damaging Het
Gja3 T C 14: 57,035,713 R401G probably damaging Het
Gm572 G A 4: 148,666,798 M209I probably benign Het
Gne G A 4: 44,060,030 T121M probably damaging Het
Gnmt T C 17: 46,726,379 N160D probably damaging Het
Kalrn T C 16: 34,212,249 Y1125C probably damaging Het
Kif2a A T 13: 106,975,376 C524S probably damaging Het
Kl A G 5: 150,991,538 N910S possibly damaging Het
Lrrtm2 C T 18: 35,213,706 R181H probably damaging Het
Mkln1 A G 6: 31,433,069 D214G probably benign Het
Muc5b C A 7: 141,851,582 T909N unknown Het
Myh13 T A 11: 67,335,002 D335E possibly damaging Het
Myo5b A G 18: 74,701,521 E884G probably benign Het
Naip1 T C 13: 100,444,526 D71G possibly damaging Het
Nxpe4 T A 9: 48,396,538 I314N possibly damaging Het
Pcnt T C 10: 76,392,756 E1525G probably benign Het
Pkd1 T A 17: 24,592,641 H153Q possibly damaging Het
Prkdc T A 16: 15,737,834 Y2157* probably null Het
Scd3 T C 19: 44,215,511 I46T probably benign Het
Sdha A T 13: 74,334,357 M279K probably damaging Het
Slco4c1 A G 1: 96,819,104 V671A probably benign Het
Slitrk3 T A 3: 73,048,629 T937S probably damaging Het
Sncaip A T 18: 52,898,204 T442S probably benign Het
Sptb T C 12: 76,603,699 D1748G possibly damaging Het
Vmn2r12 A T 5: 109,085,870 C825* 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 probably damaging 0.96
BB014:Amz2 UTSW 11 109429058 missense probably damaging 0.96
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
R5845:Amz2 UTSW 11 109433929 missense probably damaging 1.00
R6341:Amz2 UTSW 11 109428827 missense probably benign 0.10
R6384:Amz2 UTSW 11 109429034 missense probably damaging 0.99
R7698:Amz2 UTSW 11 109429007 missense probably damaging 0.98
R7896:Amz2 UTSW 11 109436587 missense possibly damaging 0.80
R7927:Amz2 UTSW 11 109429058 missense probably damaging 0.96
Predicted Primers
Posted On2016-12-15