Incidental Mutation 'IGL02590:Adam5'
ID299694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam5
Ensembl Gene ENSMUSG00000031554
Gene Namea disintegrin and metallopeptidase domain 5
SynonymstMDCII
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL02590
Quality Score
Status
Chromosome8
Chromosomal Location24727093-24824369 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to G at 24744135 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]
Predicted Effect unknown
Transcript: ENSMUST00000050300
AA Change: R723S
SMART Domains Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: R723S

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 unknown
Transcript: ENSMUST00000118419
AA Change: R723S
SMART Domains Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: R723S

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 probably benign
Transcript: ENSMUST00000132180
SMART Domains Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,457,834 F118S probably damaging Het
Bok T C 1: 93,686,675 probably benign Het
C1s1 C T 6: 124,531,276 V585I possibly damaging Het
Chd2 C T 7: 73,453,200 V1346I probably benign Het
Cyb5a A T 18: 84,871,607 T54S probably benign Het
Dnah7b A T 1: 46,123,777 T428S probably benign Het
Efhc1 T C 1: 20,967,384 Y262H probably damaging Het
Fyb2 A T 4: 104,979,053 I404F probably damaging Het
Glra2 T C X: 165,254,226 N237S probably benign Het
Gypc A G 18: 32,530,007 *96R probably null Het
Il15 T C 8: 82,343,283 I51V probably benign Het
Itgb2 T C 10: 77,559,513 C483R probably damaging Het
Kdr C T 5: 75,936,323 D1272N probably benign Het
Kif14 C A 1: 136,496,004 T969K probably benign Het
Klhl42 T C 6: 147,092,312 S261P probably damaging Het
Lrp1 C A 10: 127,552,791 G3263V probably damaging Het
Mid1 A G X: 169,927,023 E5G probably damaging Het
Mmrn2 T A 14: 34,399,267 L698* probably null Het
Myh14 T G 7: 44,624,079 Q1393P probably damaging Het
Ncoa7 C T 10: 30,694,163 E267K probably damaging Het
Obox5 T C 7: 15,757,592 I19T possibly damaging Het
Olfr1054 A G 2: 86,333,000 S119P possibly damaging Het
Olfr53 A G 7: 140,652,392 probably null Het
Pcnx A G 12: 81,994,978 Y2128C probably damaging Het
Plcb1 A G 2: 135,294,864 D293G probably benign Het
Prpf4b T C 13: 34,888,146 probably benign Het
Psapl1 A T 5: 36,205,053 T330S probably benign Het
Rap1gap A G 4: 137,720,300 T453A probably damaging Het
Ric1 T A 19: 29,567,481 probably benign Het
Robo1 A G 16: 73,043,132 E1590G probably benign Het
Sorl1 C T 9: 42,046,561 V596I probably benign Het
Tlr12 A G 4: 128,617,389 I356T probably benign Het
Trav8d-2 T C 14: 53,042,449 S8P possibly damaging Het
Tyms C A 5: 30,064,151 V75L probably benign Het
Vmn1r230 T A 17: 20,846,910 S120R probably damaging Het
Vmn2r84 T A 10: 130,391,487 probably benign Het
Wdr27 C T 17: 14,917,779 A388T possibly damaging Het
Other mutations in Adam5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Adam5 APN 8 24818742 missense probably benign 0.18
IGL01285:Adam5 APN 8 24781594 missense probably benign 0.02
IGL01310:Adam5 APN 8 24742134 intron probably benign
IGL01510:Adam5 APN 8 24804465 missense probably damaging 1.00
IGL01570:Adam5 APN 8 24810823 missense probably damaging 1.00
IGL02017:Adam5 APN 8 24781759 missense probably benign 0.38
IGL02191:Adam5 APN 8 24812423 nonsense probably null
IGL02397:Adam5 APN 8 24744133 intron probably benign
IGL02488:Adam5 APN 8 24792006 missense probably damaging 0.98
IGL02490:Adam5 APN 8 24781704 nonsense probably null
IGL02499:Adam5 APN 8 24781565 critical splice donor site probably null
IGL02539:Adam5 APN 8 24786213 nonsense probably null
IGL02677:Adam5 APN 8 24812379 splice site probably benign
IGL02679:Adam5 APN 8 24806526 missense probably damaging 1.00
IGL02982:Adam5 APN 8 24804431 missense probably benign 0.02
IGL03146:Adam5 APN 8 24804503 missense probably damaging 0.98
IGL03162:Adam5 APN 8 24781604 missense probably benign 0.30
IGL03284:Adam5 APN 8 24786338 splice site probably benign
R0081:Adam5 UTSW 8 24781687 missense probably damaging 1.00
R0377:Adam5 UTSW 8 24747541 missense probably benign 0.08
R0398:Adam5 UTSW 8 24813432 missense probably benign 0.17
R0771:Adam5 UTSW 8 24786299 missense probably benign 0.04
R0925:Adam5 UTSW 8 24812425 missense probably benign 0.09
R1547:Adam5 UTSW 8 24810713 missense probably benign 0.10
R1985:Adam5 UTSW 8 24746739 missense probably benign 0.01
R2115:Adam5 UTSW 8 24744145 intron probably benign
R2125:Adam5 UTSW 8 24815118 missense probably damaging 1.00
R2144:Adam5 UTSW 8 24815480 missense probably benign 0.14
R3151:Adam5 UTSW 8 24781631 missense probably damaging 0.99
R3612:Adam5 UTSW 8 24818089 splice site probably benign
R3844:Adam5 UTSW 8 24813410 missense probably benign 0.12
R3873:Adam5 UTSW 8 24815109 missense probably benign 0.02
R4514:Adam5 UTSW 8 24818136 missense probably damaging 1.00
R4843:Adam5 UTSW 8 24813536 missense probably damaging 1.00
R4866:Adam5 UTSW 8 24742156 splice site probably null
R4866:Adam5 UTSW 8 24781603 missense probably damaging 0.98
R4900:Adam5 UTSW 8 24742156 splice site probably null
R4900:Adam5 UTSW 8 24781603 missense probably damaging 0.98
R4903:Adam5 UTSW 8 24786232 missense probably damaging 1.00
R4936:Adam5 UTSW 8 24786271 missense probably damaging 1.00
R4964:Adam5 UTSW 8 24786232 missense probably damaging 1.00
R5259:Adam5 UTSW 8 24810834 missense possibly damaging 0.90
R5293:Adam5 UTSW 8 24810706 missense possibly damaging 0.46
R5724:Adam5 UTSW 8 24804495 nonsense probably null
R5859:Adam5 UTSW 8 24813461 missense probably benign
R6004:Adam5 UTSW 8 24781669 missense probably benign 0.04
R6175:Adam5 UTSW 8 24786151 missense probably benign 0.00
R6539:Adam5 UTSW 8 24782600 missense possibly damaging 0.85
R6994:Adam5 UTSW 8 24786246 nonsense probably null
R6996:Adam5 UTSW 8 24806501 missense probably damaging 1.00
R7009:Adam5 UTSW 8 24806438 missense probably benign 0.00
R7115:Adam5 UTSW 8 24781696 missense possibly damaging 0.69
R7127:Adam5 UTSW 8 24810781 missense probably damaging 1.00
X0019:Adam5 UTSW 8 24812443 missense probably benign 0.00
X0022:Adam5 UTSW 8 24813563 critical splice acceptor site probably null
X0027:Adam5 UTSW 8 24818772 missense probably damaging 1.00
Posted On2015-04-16