Incidental Mutation 'IGL01994:Adam15'
ID 183638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam15
Ensembl Gene ENSMUSG00000028041
Gene Name ADAM metallopeptidase domain 15
Synonyms metargidin, MDC15
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # IGL01994
Quality Score
Status
Chromosome 3
Chromosomal Location 89246947-89257589 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 89248812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029674] [ENSMUST00000029676] [ENSMUST00000074582] [ENSMUST00000107446] [ENSMUST00000107448] [ENSMUST00000184651]
AlphaFold O88839
Predicted Effect probably benign
Transcript: ENSMUST00000029674
SMART Domains Protein: ENSMUSP00000029674
Gene: ENSMUSG00000028040

DomainStartEndE-ValueType
Pfam:Ephrin 22 160 7.6e-53 PFAM
low complexity region 188 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000029676
SMART Domains Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 29 158 1.2e-14 PFAM
Pfam:Reprolysin_3 208 360 1e-12 PFAM
Pfam:Reprolysin_5 212 394 1.5e-15 PFAM
Pfam:Reprolysin_4 214 410 3.1e-8 PFAM
Pfam:Reprolysin 214 416 1.6e-54 PFAM
Pfam:Reprolysin_2 257 405 9.9e-12 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 763 781 N/A INTRINSIC
low complexity region 808 862 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074582
SMART Domains Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 2.6e-21 PFAM
Pfam:Reprolysin_5 212 394 1.6e-15 PFAM
Pfam:Reprolysin_4 214 410 2.9e-8 PFAM
Pfam:Reprolysin 214 415 4.2e-56 PFAM
Pfam:Reprolysin_3 238 360 1.7e-14 PFAM
Pfam:Reprolysin_2 254 405 1.1e-10 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 760 813 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107446
SMART Domains Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 9.9e-22 PFAM
Pfam:Reprolysin_3 209 360 5.9e-15 PFAM
Pfam:Reprolysin_5 212 394 5e-16 PFAM
Pfam:Reprolysin_4 213 410 1e-8 PFAM
Pfam:Reprolysin 214 415 1.4e-56 PFAM
Pfam:Reprolysin_2 253 405 4e-11 PFAM
low complexity region 416 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107448
SMART Domains Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 2.7e-21 PFAM
Pfam:Reprolysin_5 212 394 1.6e-15 PFAM
Pfam:Reprolysin_4 214 410 3e-8 PFAM
Pfam:Reprolysin 214 415 4.4e-56 PFAM
Pfam:Reprolysin_3 238 360 1.8e-14 PFAM
Pfam:Reprolysin_2 254 405 1.2e-10 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 783 837 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144608
Predicted Effect probably benign
Transcript: ENSMUST00000184651
SMART Domains Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 2.9e-21 PFAM
Pfam:Reprolysin_5 212 394 1.7e-15 PFAM
Pfam:Reprolysin_4 214 410 3.1e-8 PFAM
Pfam:Reprolysin 214 415 4.6e-56 PFAM
Pfam:Reprolysin_3 238 360 1.9e-14 PFAM
Pfam:Reprolysin_2 255 405 1.2e-10 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 763 781 N/A INTRINSIC
low complexity region 808 862 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139705
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. This gene is prominently expressed in vascular cells, the endocardium, hypertrophic cells in developing bone, and specific areas of hippocampus and cerebellum. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein have increased bone mass resulting from osteoblast proliferation, and exhibit reduced neovascularization in a mouse model for retinopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice develop normally and exhibit normal angiogenesis, but show a resistance to pathological neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,305,563 (GRCm39) Y418N probably benign Het
Adam32 C A 8: 25,392,812 (GRCm39) probably benign Het
Adamts12 T A 15: 11,345,680 (GRCm39) C1574S probably damaging Het
Adck1 T C 12: 88,397,926 (GRCm39) S187P possibly damaging Het
Atp13a3 A G 16: 30,156,336 (GRCm39) V949A possibly damaging Het
Atxn3 T C 12: 101,908,439 (GRCm39) T138A probably benign Het
Atxn7l2 C T 3: 108,110,859 (GRCm39) R559Q probably damaging Het
Bicra G T 7: 15,706,741 (GRCm39) S1233R possibly damaging Het
Cacybp G T 1: 160,034,206 (GRCm39) N101K probably damaging Het
Cops7b T C 1: 86,528,828 (GRCm39) L185P probably damaging Het
Cttnbp2 T C 6: 18,420,814 (GRCm39) D899G possibly damaging Het
Cyp4f37 C T 17: 32,844,150 (GRCm39) R85* probably null Het
Dnah3 T G 7: 119,550,437 (GRCm39) N3294T possibly damaging Het
Elmo1 T A 13: 20,526,634 (GRCm39) Y395N probably damaging Het
Fam234b T A 6: 135,202,203 (GRCm39) Y308* probably null Het
Fam43a A G 16: 30,419,481 (GRCm39) K22E probably damaging Het
Fcer2a T C 8: 3,738,302 (GRCm39) N123D possibly damaging Het
Gm11595 A G 11: 99,663,027 (GRCm39) C218R unknown Het
Gria4 T C 9: 4,537,726 (GRCm39) Y194C probably damaging Het
Grin2d T C 7: 45,507,396 (GRCm39) E435G probably damaging Het
Hectd1 T C 12: 51,844,725 (GRCm39) E506G probably damaging Het
Htt G A 5: 34,989,948 (GRCm39) S1160N possibly damaging Het
Ift140 A G 17: 25,267,417 (GRCm39) E605G probably damaging Het
Il17re T C 6: 113,445,411 (GRCm39) V374A probably benign Het
Ippk A G 13: 49,612,093 (GRCm39) Q439R possibly damaging Het
Itgam G A 7: 127,700,899 (GRCm39) V530M probably damaging Het
Kirrel3 A G 9: 34,931,429 (GRCm39) H47R possibly damaging Het
Klk1b24 A T 7: 43,841,057 (GRCm39) I162F probably damaging Het
Lama1 A T 17: 68,059,434 (GRCm39) T606S probably benign Het
Lama2 C T 10: 27,343,199 (GRCm39) probably null Het
Lrp2 A G 2: 69,313,945 (GRCm39) I2262T probably benign Het
Mamdc4 A T 2: 25,458,546 (GRCm39) I317N possibly damaging Het
Mtmr3 G T 11: 4,437,938 (GRCm39) H839N probably benign Het
Ncr1 G T 7: 4,344,253 (GRCm39) V177F probably benign Het
Nop58 T C 1: 59,743,242 (GRCm39) S219P probably damaging Het
Nrg3 T C 14: 38,734,043 (GRCm39) Y281C probably damaging Het
Nsf A G 11: 103,819,608 (GRCm39) S54P probably damaging Het
Or56b6 A T 7: 104,925,153 (GRCm39) noncoding transcript Het
Or6k8-ps1 T A 1: 173,979,102 (GRCm39) S7T probably benign Het
Plxnc1 T C 10: 94,685,801 (GRCm39) K730R probably damaging Het
Polr2g A T 19: 8,771,740 (GRCm39) probably benign Het
Rps13 A G 7: 115,932,925 (GRCm39) probably benign Het
Scgb2b7 A G 7: 31,403,409 (GRCm39) I99T probably benign Het
Slc22a27 G T 19: 7,887,108 (GRCm39) H260Q possibly damaging Het
Spata18 G T 5: 73,814,944 (GRCm39) probably null Het
Tns2 A G 15: 102,019,814 (GRCm39) E560G possibly damaging Het
Trbv16 T C 6: 41,128,715 (GRCm39) probably benign Het
Ubr3 T A 2: 69,851,520 (GRCm39) I1829N probably damaging Het
Vcl C T 14: 21,053,311 (GRCm39) T442I probably damaging Het
Vmn2r102 T A 17: 19,880,731 (GRCm39) I24N probably benign Het
Vmn2r114 T C 17: 23,529,451 (GRCm39) D217G probably damaging Het
Vmn2r58 A G 7: 41,486,394 (GRCm39) Y834H probably damaging Het
Zdhhc8 G T 16: 18,045,636 (GRCm39) probably benign Het
Other mutations in Adam15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Adam15 APN 3 89,251,445 (GRCm39) missense probably benign 0.03
IGL02184:Adam15 APN 3 89,253,241 (GRCm39) splice site probably benign
IGL02501:Adam15 APN 3 89,247,769 (GRCm39) missense possibly damaging 0.82
IGL02821:Adam15 APN 3 89,252,663 (GRCm39) missense probably damaging 1.00
IGL02933:Adam15 APN 3 89,250,790 (GRCm39) missense possibly damaging 0.91
IGL03078:Adam15 APN 3 89,253,244 (GRCm39) splice site probably benign
IGL03185:Adam15 APN 3 89,255,212 (GRCm39) missense probably benign 0.41
PIT4280001:Adam15 UTSW 3 89,251,285 (GRCm39) critical splice acceptor site probably null
PIT4581001:Adam15 UTSW 3 89,251,139 (GRCm39) missense probably benign 0.00
R0559:Adam15 UTSW 3 89,251,085 (GRCm39) missense probably damaging 1.00
R1530:Adam15 UTSW 3 89,257,137 (GRCm39) missense probably damaging 0.99
R1670:Adam15 UTSW 3 89,255,817 (GRCm39) splice site probably benign
R1909:Adam15 UTSW 3 89,252,637 (GRCm39) missense probably benign 0.19
R3110:Adam15 UTSW 3 89,254,764 (GRCm39) missense probably benign 0.10
R3112:Adam15 UTSW 3 89,254,764 (GRCm39) missense probably benign 0.10
R3897:Adam15 UTSW 3 89,254,245 (GRCm39) missense probably benign 0.00
R4058:Adam15 UTSW 3 89,254,362 (GRCm39) missense possibly damaging 0.94
R4573:Adam15 UTSW 3 89,253,293 (GRCm39) missense probably damaging 1.00
R5267:Adam15 UTSW 3 89,257,206 (GRCm39) utr 5 prime probably benign
R5364:Adam15 UTSW 3 89,252,902 (GRCm39) missense probably damaging 1.00
R5801:Adam15 UTSW 3 89,249,668 (GRCm39) missense probably damaging 1.00
R5813:Adam15 UTSW 3 89,253,135 (GRCm39) missense probably benign 0.12
R5964:Adam15 UTSW 3 89,250,874 (GRCm39) nonsense probably null
R6218:Adam15 UTSW 3 89,251,190 (GRCm39) missense probably benign 0.00
R6564:Adam15 UTSW 3 89,254,519 (GRCm39) missense possibly damaging 0.56
R6579:Adam15 UTSW 3 89,252,936 (GRCm39) missense probably damaging 1.00
R6834:Adam15 UTSW 3 89,247,390 (GRCm39) missense probably damaging 0.96
R7131:Adam15 UTSW 3 89,254,287 (GRCm39) missense possibly damaging 0.64
R7204:Adam15 UTSW 3 89,254,244 (GRCm39) missense probably benign 0.01
R7578:Adam15 UTSW 3 89,251,499 (GRCm39) missense probably damaging 1.00
R7663:Adam15 UTSW 3 89,253,113 (GRCm39) missense probably damaging 0.99
R8016:Adam15 UTSW 3 89,252,668 (GRCm39) missense probably benign
R8098:Adam15 UTSW 3 89,251,193 (GRCm39) missense probably damaging 1.00
R8133:Adam15 UTSW 3 89,254,513 (GRCm39) missense probably benign 0.02
R8230:Adam15 UTSW 3 89,252,917 (GRCm39) missense probably benign 0.06
R9149:Adam15 UTSW 3 89,254,742 (GRCm39) missense possibly damaging 0.60
R9307:Adam15 UTSW 3 89,254,790 (GRCm39) missense possibly damaging 0.94
R9308:Adam15 UTSW 3 89,254,790 (GRCm39) missense possibly damaging 0.94
R9321:Adam15 UTSW 3 89,254,794 (GRCm39) critical splice acceptor site probably null
R9612:Adam15 UTSW 3 89,249,247 (GRCm39) missense probably damaging 1.00
R9670:Adam15 UTSW 3 89,253,270 (GRCm39) missense probably benign 0.10
Posted On 2014-05-07