Incidental Mutation 'IGL02982:Adam5'
ID 406604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam5
Ensembl Gene ENSMUSG00000031554
Gene Name a disintegrin and metallopeptidase domain 5
Synonyms tMDCII
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02982
Quality Score
Status
Chromosome 8
Chromosomal Location 25217109-25314385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25294447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 384 (A384D)
Ref Sequence ENSEMBL: ENSMUSP00000147290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]
AlphaFold Q3TTE0
Predicted Effect probably benign
Transcript: ENSMUST00000050300
AA Change: A384D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: A384D

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Pep_M12B_propep 16 142 1.6e-19 PFAM
Pfam:Reprolysin 185 378 7.7e-59 PFAM
DISIN 397 474 9.1e-42 SMART
ACR 475 618 6.9e-58 SMART
transmembrane domain 695 712 N/A INTRINSIC
low complexity region 718 751 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118419
AA Change: A384D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: A384D

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Pep_M12B_propep 16 142 4.7e-30 PFAM
Pfam:Reprolysin 185 378 7.9e-56 PFAM
DISIN 397 474 1.78e-39 SMART
ACR 475 618 2.06e-55 SMART
transmembrane domain 695 712 N/A INTRINSIC
low complexity region 718 750 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130939
Predicted Effect unknown
Transcript: ENSMUST00000132180
AA Change: A301D
SMART Domains Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: A301D

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 1 60 6.7e-14 PFAM
Pfam:Reprolysin 103 296 2.5e-61 PFAM
DISIN 315 392 1.78e-39 SMART
ACR 393 536 2.06e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209935
AA Change: A384D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Adam5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Adam5 APN 8 25,308,758 (GRCm39) missense probably benign 0.18
IGL01285:Adam5 APN 8 25,271,610 (GRCm39) missense probably benign 0.02
IGL01310:Adam5 APN 8 25,232,150 (GRCm39) intron probably benign
IGL01510:Adam5 APN 8 25,294,481 (GRCm39) missense probably damaging 1.00
IGL01570:Adam5 APN 8 25,300,839 (GRCm39) missense probably damaging 1.00
IGL02017:Adam5 APN 8 25,271,775 (GRCm39) missense probably benign 0.38
IGL02191:Adam5 APN 8 25,302,439 (GRCm39) nonsense probably null
IGL02397:Adam5 APN 8 25,234,149 (GRCm39) intron probably benign
IGL02488:Adam5 APN 8 25,282,022 (GRCm39) missense probably damaging 0.98
IGL02490:Adam5 APN 8 25,271,720 (GRCm39) nonsense probably null
IGL02499:Adam5 APN 8 25,271,581 (GRCm39) critical splice donor site probably null
IGL02539:Adam5 APN 8 25,276,229 (GRCm39) nonsense probably null
IGL02590:Adam5 APN 8 25,234,151 (GRCm39) intron probably benign
IGL02677:Adam5 APN 8 25,302,395 (GRCm39) splice site probably benign
IGL02679:Adam5 APN 8 25,296,542 (GRCm39) missense probably damaging 1.00
IGL03146:Adam5 APN 8 25,294,519 (GRCm39) missense probably damaging 0.98
IGL03162:Adam5 APN 8 25,271,620 (GRCm39) missense probably benign 0.30
IGL03284:Adam5 APN 8 25,276,354 (GRCm39) splice site probably benign
R0081:Adam5 UTSW 8 25,271,703 (GRCm39) missense probably damaging 1.00
R0377:Adam5 UTSW 8 25,237,557 (GRCm39) missense probably benign 0.08
R0398:Adam5 UTSW 8 25,303,448 (GRCm39) missense probably benign 0.17
R0771:Adam5 UTSW 8 25,276,315 (GRCm39) missense probably benign 0.04
R0925:Adam5 UTSW 8 25,302,441 (GRCm39) missense probably benign 0.09
R1547:Adam5 UTSW 8 25,300,729 (GRCm39) missense probably benign 0.10
R1985:Adam5 UTSW 8 25,236,755 (GRCm39) missense probably benign 0.01
R2115:Adam5 UTSW 8 25,234,161 (GRCm39) intron probably benign
R2125:Adam5 UTSW 8 25,305,134 (GRCm39) missense probably damaging 1.00
R2144:Adam5 UTSW 8 25,305,496 (GRCm39) missense probably benign 0.14
R3151:Adam5 UTSW 8 25,271,647 (GRCm39) missense probably damaging 0.99
R3612:Adam5 UTSW 8 25,308,105 (GRCm39) splice site probably benign
R3844:Adam5 UTSW 8 25,303,426 (GRCm39) missense probably benign 0.12
R3873:Adam5 UTSW 8 25,305,125 (GRCm39) missense probably benign 0.02
R4514:Adam5 UTSW 8 25,308,152 (GRCm39) missense probably damaging 1.00
R4843:Adam5 UTSW 8 25,303,552 (GRCm39) missense probably damaging 1.00
R4866:Adam5 UTSW 8 25,271,619 (GRCm39) missense probably damaging 0.98
R4866:Adam5 UTSW 8 25,232,172 (GRCm39) splice site probably null
R4900:Adam5 UTSW 8 25,232,172 (GRCm39) splice site probably null
R4900:Adam5 UTSW 8 25,271,619 (GRCm39) missense probably damaging 0.98
R4903:Adam5 UTSW 8 25,276,248 (GRCm39) missense probably damaging 1.00
R4936:Adam5 UTSW 8 25,276,287 (GRCm39) missense probably damaging 1.00
R4964:Adam5 UTSW 8 25,276,248 (GRCm39) missense probably damaging 1.00
R5259:Adam5 UTSW 8 25,300,850 (GRCm39) missense possibly damaging 0.90
R5293:Adam5 UTSW 8 25,300,722 (GRCm39) missense possibly damaging 0.46
R5724:Adam5 UTSW 8 25,294,511 (GRCm39) nonsense probably null
R5859:Adam5 UTSW 8 25,303,477 (GRCm39) missense probably benign
R6004:Adam5 UTSW 8 25,271,685 (GRCm39) missense probably benign 0.04
R6175:Adam5 UTSW 8 25,276,167 (GRCm39) missense probably benign 0.00
R6539:Adam5 UTSW 8 25,272,616 (GRCm39) missense possibly damaging 0.85
R6994:Adam5 UTSW 8 25,276,262 (GRCm39) nonsense probably null
R6996:Adam5 UTSW 8 25,296,517 (GRCm39) missense probably damaging 1.00
R7009:Adam5 UTSW 8 25,296,454 (GRCm39) missense probably benign 0.00
R7115:Adam5 UTSW 8 25,271,712 (GRCm39) missense possibly damaging 0.69
R7127:Adam5 UTSW 8 25,300,797 (GRCm39) missense probably damaging 1.00
R7469:Adam5 UTSW 8 25,305,541 (GRCm39) missense probably benign 0.45
R7780:Adam5 UTSW 8 25,294,432 (GRCm39) missense possibly damaging 0.49
R8027:Adam5 UTSW 8 25,272,574 (GRCm39) missense probably damaging 1.00
R8069:Adam5 UTSW 8 25,303,541 (GRCm39) missense probably damaging 1.00
R8138:Adam5 UTSW 8 25,271,778 (GRCm39) missense probably damaging 1.00
R8305:Adam5 UTSW 8 25,300,719 (GRCm39) missense possibly damaging 0.93
R8359:Adam5 UTSW 8 25,296,502 (GRCm39) missense probably damaging 1.00
R8480:Adam5 UTSW 8 25,294,475 (GRCm39) nonsense probably null
R8743:Adam5 UTSW 8 25,276,264 (GRCm39) missense probably damaging 1.00
R9000:Adam5 UTSW 8 25,294,372 (GRCm39) critical splice donor site probably null
R9442:Adam5 UTSW 8 25,296,510 (GRCm39) missense probably damaging 0.96
R9474:Adam5 UTSW 8 25,237,540 (GRCm39) missense possibly damaging 0.95
R9602:Adam5 UTSW 8 25,303,402 (GRCm39) missense probably damaging 0.96
R9748:Adam5 UTSW 8 25,301,068 (GRCm39) missense probably benign 0.23
X0019:Adam5 UTSW 8 25,302,459 (GRCm39) missense probably benign 0.00
X0022:Adam5 UTSW 8 25,303,579 (GRCm39) critical splice acceptor site probably null
X0027:Adam5 UTSW 8 25,308,788 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02