Incidental Mutation 'IGL02555:Adam9'
ID298482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam9
Ensembl Gene ENSMUSG00000031555
Gene Namea disintegrin and metallopeptidase domain 9 (meltrin gamma)
SynonymsMDC9, MDC9, Mltng, Mltng
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02555
Quality Score
Status
Chromosome8
Chromosomal Location24949611-25016927 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24966736 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 661 (N661D)
Ref Sequence ENSEMBL: ENSMUSP00000146545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000208247]
Predicted Effect probably damaging
Transcript: ENSMUST00000084032
AA Change: N661D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: N661D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 163 8.5e-36 PFAM
Pfam:Reprolysin_5 210 386 5.5e-20 PFAM
Pfam:Reprolysin_4 210 402 1.4e-11 PFAM
Pfam:Reprolysin 212 406 1e-67 PFAM
Pfam:Reprolysin_2 232 396 1.1e-12 PFAM
Pfam:Reprolysin_3 236 358 8.1e-19 PFAM
DISIN 423 499 8.7e-44 SMART
ACR 500 637 9.7e-75 SMART
EGF 643 674 9.9e-2 SMART
transmembrane domain 699 718 N/A INTRINSIC
low complexity region 753 787 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084035
AA Change: N661D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: N661D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 34 163 8.1e-31 PFAM
Pfam:Reprolysin_5 210 386 5.8e-22 PFAM
Pfam:Reprolysin_4 210 402 1.6e-13 PFAM
Pfam:Reprolysin 212 406 1.9e-73 PFAM
Pfam:Reprolysin_2 232 396 9.4e-15 PFAM
Pfam:Reprolysin_3 236 358 3.4e-19 PFAM
DISIN 423 499 1.71e-41 SMART
ACR 500 637 2.86e-72 SMART
EGF 643 674 2.03e1 SMART
transmembrane domain 699 718 N/A INTRINSIC
low complexity region 753 794 N/A INTRINSIC
low complexity region 808 826 N/A INTRINSIC
low complexity region 831 839 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000208247
AA Change: N661D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik G T 15: 74,881,608 probably benign Het
Actr1b G A 1: 36,701,747 R199C probably damaging Het
Amy1 C T 3: 113,564,892 E164K probably benign Het
Arid5b A C 10: 68,101,904 D221E probably benign Het
B3galt1 G T 2: 68,118,561 V207F probably benign Het
Begain A G 12: 109,034,189 S219P probably damaging Het
Clip1 A G 5: 123,621,794 probably null Het
Cps1 A G 1: 67,214,021 K1224R probably benign Het
Dnm1 A G 2: 32,328,038 Y449H probably damaging Het
Epas1 A T 17: 86,829,064 M755L probably benign Het
F13b T C 1: 139,517,186 C525R probably damaging Het
Fmnl2 A G 2: 53,126,851 probably null Het
Gm5346 A T 8: 43,625,268 C640S probably damaging Het
Ighv5-15 A G 12: 113,827,115 F3L probably benign Het
Inpp4a A G 1: 37,379,968 Q538R possibly damaging Het
Insrr A T 3: 87,813,817 M1092L probably damaging Het
Itgb8 C T 12: 119,189,881 V300M probably damaging Het
Kcnk5 A T 14: 20,141,985 H369Q probably benign Het
Olfr1023 G A 2: 85,887,398 M199I probably benign Het
Olfr1249 G A 2: 89,630,203 R232C probably damaging Het
Olfr1294 A G 2: 111,537,917 V124A probably damaging Het
Olfr24 T A 9: 18,755,473 H54L probably benign Het
Plxdc2 A G 2: 16,729,341 I417M probably benign Het
Polr1a G A 6: 71,920,457 E186K probably damaging Het
Ppp3cb A T 14: 20,530,953 F134L probably damaging Het
Prox2 C T 12: 85,095,260 W56* probably null Het
Scaf4 C T 16: 90,250,305 A395T unknown Het
Sh3tc2 G T 18: 61,990,237 A690S probably damaging Het
Slc34a1 T C 13: 55,401,168 S144P possibly damaging Het
Slc6a6 C T 6: 91,748,330 probably benign Het
Tubgcp3 A T 8: 12,639,595 M557K probably benign Het
Vmn2r103 A T 17: 19,811,611 D549V probably damaging Het
Washc2 T A 6: 116,209,100 N90K probably damaging Het
Other mutations in Adam9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Adam9 APN 8 24967196 missense probably benign 0.03
IGL01786:Adam9 APN 8 24996839 missense probably damaging 1.00
IGL02095:Adam9 APN 8 24996729 missense probably benign 0.00
IGL02322:Adam9 APN 8 24955974 missense probably damaging 1.00
IGL02869:Adam9 APN 8 24970618 missense probably damaging 1.00
R0126:Adam9 UTSW 8 24970737 missense probably damaging 1.00
R0448:Adam9 UTSW 8 24964910 missense probably damaging 1.00
R0552:Adam9 UTSW 8 24963010 missense probably benign 0.00
R0730:Adam9 UTSW 8 24996758 missense probably benign 0.02
R1455:Adam9 UTSW 8 24993109 missense probably benign 0.00
R1974:Adam9 UTSW 8 24992224 missense probably damaging 1.00
R2043:Adam9 UTSW 8 24996653 critical splice donor site probably null
R2054:Adam9 UTSW 8 24991294 missense probably damaging 1.00
R2091:Adam9 UTSW 8 24995184 splice site probably benign
R2111:Adam9 UTSW 8 24982126 splice site probably benign
R4261:Adam9 UTSW 8 24964907 nonsense probably null
R4852:Adam9 UTSW 8 25003301 missense probably damaging 1.00
R5165:Adam9 UTSW 8 24967174 missense possibly damaging 0.88
R6022:Adam9 UTSW 8 25003305 missense possibly damaging 0.87
R6101:Adam9 UTSW 8 24970759 missense probably damaging 1.00
R6105:Adam9 UTSW 8 24970759 missense probably damaging 1.00
R6415:Adam9 UTSW 8 24978482 missense probably damaging 1.00
Posted On2015-04-16