Incidental Mutation 'R5845:Amz2'
ID453577
Institutional Source Beutler Lab
Gene Symbol Amz2
Ensembl Gene ENSMUSG00000020610
Gene Namearchaelysin family metallopeptidase 2
SynonymsESTM12
MMRRC Submission 044063-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5845 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location109425946-109452813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109433929 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 213 (F213S)
Ref Sequence ENSEMBL: ENSMUSP00000099350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000092500] [ENSMUST00000103061]
Predicted Effect probably damaging
Transcript: ENSMUST00000020929
AA Change: F213S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
AA Change: F213S

DomainStartEndE-ValueType
Pfam:Peptidase_M54 220 302 7.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092500
AA Change: F213S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
AA Change: F213S

DomainStartEndE-ValueType
Pfam:Peptidase_M54 232 302 2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103061
AA Change: F213S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
AA Change: F213S

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: ENSMUST00000148057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155036
Meta Mutation Damage Score 0.6883 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,626,083 Y928N probably benign Het
Als2cr12 T A 1: 58,667,778 E243D possibly damaging Het
Cage1 T A 13: 38,015,706 S732C probably damaging Het
Ccnf C A 17: 24,240,793 D229Y possibly damaging Het
Cdon G T 9: 35,457,466 C332F probably damaging Het
Clca3b G A 3: 144,825,316 R758C possibly damaging Het
Cyp2ab1 C T 16: 20,312,332 R349H probably benign Het
Dock10 C T 1: 80,505,742 probably benign Het
Dock5 A T 14: 67,841,101 Y225N possibly damaging Het
Ear2 G A 14: 44,103,161 R92K probably benign Het
Eif3c T C 7: 126,564,755 S39G probably damaging Het
Eml3 A G 19: 8,939,218 D701G probably damaging Het
Fat3 G A 9: 16,377,210 T339I probably damaging Het
Fbn2 T C 18: 58,053,768 D1687G possibly damaging Het
Fcnb C T 2: 28,079,621 probably null Het
Fscb A G 12: 64,472,784 V636A unknown Het
Gm6124 A G 7: 39,219,875 noncoding transcript Het
Hectd4 T A 5: 121,307,524 probably null Het
Hrnr A T 3: 93,332,637 H3394L unknown Het
Hs1bp3 A G 12: 8,336,275 R226G probably benign Het
Ifngr2 T C 16: 91,555,059 V61A probably benign Het
Kcnk2 T C 1: 189,277,721 probably benign Het
Kmt2d G A 15: 98,852,109 probably benign Het
Lrmp G A 6: 145,171,666 M376I probably benign Het
Mgam T A 6: 40,675,323 N810K possibly damaging Het
Mis18a A G 16: 90,721,634 probably null Het
Nsmce3 A G 7: 64,872,188 V244A possibly damaging Het
Olfr1129 T C 2: 87,576,023 I313T probably benign Het
Plxna4 A T 6: 32,237,776 V590D probably damaging Het
Prkab1 A T 5: 116,024,160 D30E probably benign Het
Rasgrp3 A T 17: 75,503,147 N281Y possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Sept2 T A 1: 93,499,035 probably null Het
Slc26a6 T G 9: 108,862,083 V609G possibly damaging Het
Spta1 T A 1: 174,241,096 M2154K probably damaging Het
Stoml2 T G 4: 43,030,008 probably benign Het
Sult6b1 A C 17: 78,894,630 S148A probably damaging Het
Tmem131l A G 3: 83,940,553 V335A probably damaging Het
Tmem221 T A 8: 71,555,144 probably null Het
Tmem88 C G 11: 69,397,678 Q138H probably benign Het
Trpm8 T C 1: 88,328,180 Y186H probably benign Het
Trpv1 T C 11: 73,240,581 I7T probably damaging Het
Ttc34 T C 4: 154,865,472 S961P probably benign Het
Ubr1 T C 2: 120,904,005 D1138G probably benign Het
Ubr7 C T 12: 102,766,312 R188C probably damaging Het
Uspl1 C T 5: 149,193,960 P118S probably benign Het
Vdr C A 15: 97,869,766 E114D possibly damaging Het
Zfp853 C T 5: 143,288,669 V399M unknown Het
Zswim4 T A 8: 84,217,242 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
R5797:Amz2 UTSW 11 109427079 start gained probably benign
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 PCR Primer
(F):5'- TCTCGGGTGTGGAAACAATC -3'
(R):5'- CACTTCTAGGAGAGGCAAACTTG -3'

Sequencing Primer
(F):5'- AATCCAGATGTGCACTGCCTG -3'
(R):5'- AGAGGCAAACTTGTAAGTACCTAC -3'
Posted On2017-02-10