Incidental Mutation 'R5845:Amz2'
ID 453577
Institutional Source Beutler Lab
Gene Symbol Amz2
Ensembl Gene ENSMUSG00000020610
Gene Name archaelysin family metallopeptidase 2
Synonyms ESTM12
MMRRC Submission 044063-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5845 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109316772-109328974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109324755 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q400C8
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: 121,764,146 (GRCm39) Y928N probably benign Het
Cage1 T A 13: 38,199,682 (GRCm39) S732C probably damaging Het
Ccnf C A 17: 24,459,767 (GRCm39) D229Y possibly damaging Het
Cdon G T 9: 35,368,762 (GRCm39) C332F probably damaging Het
Clca3b G A 3: 144,531,077 (GRCm39) R758C possibly damaging Het
Cyp2ab1 C T 16: 20,131,082 (GRCm39) R349H probably benign Het
Dock10 C T 1: 80,483,459 (GRCm39) probably benign Het
Dock5 A T 14: 68,078,550 (GRCm39) Y225N possibly damaging Het
Ear2 G A 14: 44,340,618 (GRCm39) R92K probably benign Het
Eif3c T C 7: 126,163,927 (GRCm39) S39G probably damaging Het
Eml3 A G 19: 8,916,582 (GRCm39) D701G probably damaging Het
Fat3 G A 9: 16,288,506 (GRCm39) T339I probably damaging Het
Fbn2 T C 18: 58,186,840 (GRCm39) D1687G possibly damaging Het
Fcnb C T 2: 27,969,633 (GRCm39) probably null Het
Flacc1 T A 1: 58,706,937 (GRCm39) E243D possibly damaging Het
Fscb A G 12: 64,519,558 (GRCm39) V636A unknown Het
Gm6124 A G 7: 38,869,299 (GRCm39) noncoding transcript Het
Hectd4 T A 5: 121,445,587 (GRCm39) probably null Het
Hrnr A T 3: 93,239,944 (GRCm39) H3394L unknown Het
Hs1bp3 A G 12: 8,386,275 (GRCm39) R226G probably benign Het
Ifngr2 T C 16: 91,351,947 (GRCm39) V61A probably benign Het
Irag2 G A 6: 145,117,392 (GRCm39) M376I probably benign Het
Kcnk2 T C 1: 189,009,918 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Mgam T A 6: 40,652,257 (GRCm39) N810K possibly damaging Het
Mis18a A G 16: 90,518,522 (GRCm39) probably null Het
Nsmce3 A G 7: 64,521,936 (GRCm39) V244A possibly damaging Het
Or10ag59 T C 2: 87,406,367 (GRCm39) I313T probably benign Het
Plxna4 A T 6: 32,214,711 (GRCm39) V590D probably damaging Het
Prkab1 A T 5: 116,162,219 (GRCm39) D30E probably benign Het
Rasgrp3 A T 17: 75,810,142 (GRCm39) N281Y possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Septin2 T A 1: 93,426,757 (GRCm39) probably null Het
Slc26a6 T G 9: 108,739,282 (GRCm39) V609G possibly damaging Het
Spta1 T A 1: 174,068,662 (GRCm39) M2154K probably damaging Het
Stoml2 T G 4: 43,030,008 (GRCm39) probably benign Het
Sult6b1 A C 17: 79,202,059 (GRCm39) S148A probably damaging Het
Tmem131l A G 3: 83,847,860 (GRCm39) V335A probably damaging Het
Tmem221 T A 8: 72,007,788 (GRCm39) probably null Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Trpm8 T C 1: 88,255,902 (GRCm39) Y186H probably benign Het
Trpv1 T C 11: 73,131,407 (GRCm39) I7T probably damaging Het
Ttc34 T C 4: 154,949,929 (GRCm39) S961P probably benign Het
Ubr1 T C 2: 120,734,486 (GRCm39) D1138G probably benign Het
Ubr7 C T 12: 102,732,571 (GRCm39) R188C probably damaging Het
Uspl1 C T 5: 149,130,770 (GRCm39) P118S probably benign Het
Vdr C A 15: 97,767,647 (GRCm39) E114D possibly damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zswim4 T A 8: 84,943,871 (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
R6341:Amz2 UTSW 11 109,319,653 (GRCm39) missense probably benign 0.10
R6384:Amz2 UTSW 11 109,319,860 (GRCm39) missense probably damaging 0.99
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'- TCTCGGGTGTGGAAACAATC -3'
(R):5'- CACTTCTAGGAGAGGCAAACTTG -3'

Sequencing Primer
(F):5'- AATCCAGATGTGCACTGCCTG -3'
(R):5'- AGAGGCAAACTTGTAAGTACCTAC -3'
Posted On 2017-02-10