Incidental Mutation 'R5964:Adam15'
ID 471929
Institutional Source Beutler Lab
Gene Symbol Adam15
Ensembl Gene ENSMUSG00000028041
Gene Name ADAM metallopeptidase domain 15
Synonyms metargidin, MDC15
MMRRC Submission 044149-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R5964 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89246947-89257589 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 89250874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 581 (Q581*)
Ref Sequence ENSEMBL: ENSMUSP00000139147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029676] [ENSMUST00000074582] [ENSMUST00000107446] [ENSMUST00000107448] [ENSMUST00000184651]
AlphaFold O88839
Predicted Effect probably null
Transcript: ENSMUST00000029676
AA Change: Q581*
SMART Domains Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: Q581*

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 null
Transcript: ENSMUST00000074582
AA Change: Q581*
SMART Domains Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: Q581*

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 null
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 null
Transcript: ENSMUST00000107448
AA Change: Q581*
SMART Domains Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: Q581*

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: ENSMUST00000134590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144608
Predicted Effect probably null
Transcript: ENSMUST00000184651
AA Change: Q581*
SMART Domains Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: Q581*

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: ENSMUST00000180791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155295
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 96% (87/91)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,587,423 (GRCm39) V44A probably damaging Het
Alpk3 T A 7: 80,742,008 (GRCm39) D608E possibly damaging Het
Aspm C A 1: 139,382,965 (GRCm39) probably benign Het
Bbs2 T C 8: 94,794,995 (GRCm39) N692S probably benign Het
Bend4 A G 5: 67,575,161 (GRCm39) I240T probably benign Het
Casp8 G T 1: 58,872,895 (GRCm39) R277L possibly damaging Het
Ccdc61 A T 7: 18,634,865 (GRCm39) I123N probably damaging Het
Ccr9 T G 9: 123,608,499 (GRCm39) I60M probably benign Het
Cd163 T A 6: 124,303,531 (GRCm39) W1066R probably benign Het
Cd226 A T 18: 89,225,307 (GRCm39) H68L probably benign Het
Cdkn3 T A 14: 47,004,674 (GRCm39) C79S probably null Het
Cnnm1 A T 19: 43,458,162 (GRCm39) E658V probably benign Het
Cog7 T C 7: 121,555,252 (GRCm39) R304G probably damaging Het
Cpt1a T A 19: 3,415,760 (GRCm39) V286E possibly damaging Het
Creg2 C A 1: 39,664,122 (GRCm39) R212L probably benign Het
Cyp26a1 T G 19: 37,688,410 (GRCm39) S311A probably damaging Het
Cyp2b10 T C 7: 25,625,648 (GRCm39) Y484H probably benign Het
Cyp3a44 T A 5: 145,725,277 (GRCm39) Y308F possibly damaging Het
Dlg5 A G 14: 24,214,157 (GRCm39) V744A probably benign Het
Dlgap2 T A 8: 14,777,128 (GRCm39) Y124* probably null Het
Dnah3 T C 7: 119,522,103 (GRCm39) D4030G probably benign Het
Dnah5 A G 15: 28,458,730 (GRCm39) T4456A possibly damaging Het
Dtx2 T A 5: 136,052,553 (GRCm39) V347D probably benign Het
Gigyf2 C T 1: 87,334,889 (GRCm39) T294M probably damaging Het
Gli3 C G 13: 15,900,747 (GRCm39) S1378* probably null Het
Gnao1 G A 8: 94,693,627 (GRCm39) D337N probably benign Het
Gp2 T A 7: 119,048,352 (GRCm39) Q422L probably benign Het
Ifit1 T A 19: 34,625,869 (GRCm39) M335K possibly damaging Het
Ism1 T C 2: 139,520,677 (GRCm39) S30P probably benign Het
Itgax A G 7: 127,739,619 (GRCm39) D677G probably damaging Het
Kansl1l G A 1: 66,765,081 (GRCm39) A442V probably damaging Het
Kif13a T C 13: 46,925,000 (GRCm39) I311M probably damaging Het
Lrrc37 A G 11: 103,432,946 (GRCm39) S1232P possibly damaging Het
Lsm14b T A 2: 179,673,218 (GRCm39) S84R probably benign Het
Lzts3 A G 2: 130,478,208 (GRCm39) Y297H probably damaging Het
Map4k3 A G 17: 80,952,191 (GRCm39) I205T probably damaging Het
Matn2 A T 15: 34,410,311 (GRCm39) N501I probably damaging Het
Mctp2 T C 7: 71,752,925 (GRCm39) E776G probably damaging Het
Mex3d A T 10: 80,218,421 (GRCm39) N265K probably damaging Het
Myo5a A G 9: 75,111,115 (GRCm39) T1534A probably benign Het
Ncoa7 T C 10: 30,580,632 (GRCm39) M35V probably damaging Het
Nek4 G A 14: 30,679,036 (GRCm39) probably null Het
Ngrn T C 7: 79,911,681 (GRCm39) probably null Het
Nlrp1a T A 11: 71,013,846 (GRCm39) Q468L probably benign Het
Or11g27 T A 14: 50,771,655 (GRCm39) M262K probably damaging Het
Or5b98 A C 19: 12,931,895 (GRCm39) Q314P probably benign Het
Phtf2 T C 5: 20,980,932 (GRCm39) D433G probably damaging Het
Prdm13 G A 4: 21,683,852 (GRCm39) Q140* probably null Het
Prtg G A 9: 72,799,536 (GRCm39) G778E probably benign Het
Pum3 T C 19: 27,397,451 (GRCm39) E308G probably damaging Het
Pwp1 T G 10: 85,718,750 (GRCm39) F306V probably damaging Het
Rab24 A T 13: 55,469,389 (GRCm39) Y27N probably damaging Het
Rnf215 T C 11: 4,085,898 (GRCm39) F126L probably benign Het
Samd13 A T 3: 146,386,451 (GRCm39) probably benign Het
Serac1 T A 17: 6,115,324 (GRCm39) H213L probably benign Het
Slc45a3 A G 1: 131,905,811 (GRCm39) E278G probably damaging Het
Slit3 C T 11: 35,591,063 (GRCm39) R1292C probably damaging Het
Slx4 A T 16: 3,818,815 (GRCm39) probably null Het
Smarca4 C A 9: 21,558,726 (GRCm39) T631K probably benign Het
Snx16 C T 3: 10,499,541 (GRCm39) R163Q possibly damaging Het
Stk40 T C 4: 126,022,688 (GRCm39) V140A probably damaging Het
Tcf12 A T 9: 71,775,522 (GRCm39) D409E probably damaging Het
Tgfbr2 G T 9: 115,939,323 (GRCm39) T168K possibly damaging Het
Ticam1 G T 17: 56,578,703 (GRCm39) H131N probably damaging Het
Ttn C A 2: 76,660,232 (GRCm39) R7458I possibly damaging Het
Ttn C A 2: 76,543,855 (GRCm39) E31298* probably null Het
Usp7 A G 16: 8,529,966 (GRCm39) V133A possibly damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Wdfy4 T C 14: 32,827,968 (GRCm39) E1118G probably damaging Het
Zfp81 G C 17: 33,555,819 (GRCm39) P3A probably damaging Het
Znhit6 A G 3: 145,282,688 (GRCm39) K21R possibly damaging Het
Other mutations in Adam15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Adam15 APN 3 89,251,445 (GRCm39) missense probably benign 0.03
IGL01994:Adam15 APN 3 89,248,812 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTCTCAATCGCCCAGGCTAC -3'
(R):5'- GCCACTTTGCCTCCAAACAG -3'

Sequencing Primer
(F):5'- AGGCTACTCACCAGGCCAG -3'
(R):5'- CAGCCAACACTCGGGGTAATG -3'
Posted On 2017-03-31