Incidental Mutation 'R5801:Adam15'
ID 490737
Institutional Source Beutler Lab
Gene Symbol Adam15
Ensembl Gene ENSMUSG00000028041
Gene Name ADAM metallopeptidase domain 15
Synonyms metargidin, MDC15
MMRRC Submission 043390-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R5801 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89246947-89257589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89249668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 667 (V667I)
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 damaging
Transcript: ENSMUST00000029676
AA Change: V667I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: V667I

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 damaging
Transcript: ENSMUST00000074582
AA Change: V667I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: V667I

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 damaging
Transcript: ENSMUST00000107448
AA Change: V667I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: V667I

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 damaging
Transcript: ENSMUST00000184651
AA Change: V667I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: V667I

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: ENSMUST00000180791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139705
Meta Mutation Damage Score 0.6440 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Adamts14 T C 10: 61,038,775 (GRCm39) S912G probably damaging Het
Adamts20 C A 15: 94,245,551 (GRCm39) E584* probably null Het
Ago3 A T 4: 126,265,561 (GRCm39) N284K possibly damaging Het
Alx3 T A 3: 107,512,257 (GRCm39) Y298* probably null Het
Arhgap32 A G 9: 32,167,084 (GRCm39) I574V probably benign Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Caskin2 T C 11: 115,694,299 (GRCm39) D400G probably damaging Het
Cdc73 T A 1: 143,484,281 (GRCm39) H525L probably benign Het
Cep135 A G 5: 76,778,523 (GRCm39) E674G probably damaging Het
Cic G A 7: 24,970,863 (GRCm39) R198Q possibly damaging Het
Col5a2 T C 1: 45,428,641 (GRCm39) probably null Het
Col6a5 A G 9: 105,825,566 (GRCm39) V9A unknown Het
Cpsf7 A T 19: 10,516,996 (GRCm39) D366V probably benign Het
Cuedc2 T C 19: 46,319,796 (GRCm39) E173G probably damaging Het
D5Ertd579e T C 5: 36,761,913 (GRCm39) E1318G probably damaging Het
Ddx55 T C 5: 124,704,560 (GRCm39) probably null Het
Dennd1b T A 1: 138,967,727 (GRCm39) probably null Het
Dpy19l3 T C 7: 35,424,723 (GRCm39) T111A probably benign Het
Edn1 C A 13: 42,460,282 (GRCm39) A179E probably benign Het
Eif2b1 T C 5: 124,712,775 (GRCm39) probably null Het
Epha5 A G 5: 84,479,085 (GRCm39) probably null Het
Erc1 T A 6: 119,750,783 (GRCm39) N466I probably damaging Het
Ermp1 A G 19: 29,590,228 (GRCm39) F825L probably damaging Het
Fbh1 T C 2: 11,774,637 (GRCm39) D36G probably damaging Het
Fbxo41 G T 6: 85,461,515 (GRCm39) F64L probably damaging Het
Gabrb2 T C 11: 42,312,216 (GRCm39) S14P probably benign Het
Gm6505 A T 3: 28,819,116 (GRCm39) noncoding transcript Het
Ighv1-18 T A 12: 114,646,328 (GRCm39) D91V probably damaging Het
Imp3 A G 9: 56,845,086 (GRCm39) D99G probably benign Het
Iqub T C 6: 24,449,768 (GRCm39) K699R probably benign Het
Itpk1 A G 12: 102,540,204 (GRCm39) V293A probably damaging Het
Lrrc49 A T 9: 60,509,916 (GRCm39) F157L probably damaging Het
Mapk1ip1 T A 7: 138,438,239 (GRCm39) T64S possibly damaging Het
Mrpl9 T C 3: 94,355,103 (GRCm39) L225P possibly damaging Het
Ms4a14 A G 19: 11,279,150 (GRCm39) L1136S possibly damaging Het
Ms4a14 A T 19: 11,279,246 (GRCm39) I1104K possibly damaging Het
Nkain2 T C 10: 32,278,264 (GRCm39) T54A probably damaging Het
Ociad2 A G 5: 73,483,642 (GRCm39) F60S probably damaging Het
Or1e1f T C 11: 73,855,772 (GRCm39) F113L probably benign Het
Polk T A 13: 96,620,094 (GRCm39) H723L probably damaging Het
Prickle4 C A 17: 47,999,698 (GRCm39) R285L possibly damaging Het
Psmd2 A G 16: 20,473,672 (GRCm39) N121S probably damaging Het
Rab11fip5 T A 6: 85,314,582 (GRCm39) S1212C probably damaging Het
Rasgef1c T G 11: 49,860,883 (GRCm39) M266R probably damaging Het
Rpusd4 A G 9: 35,181,369 (GRCm39) E155G possibly damaging Het
Rrbp1 A G 2: 143,831,703 (GRCm39) S155P probably damaging Het
Safb2 T C 17: 56,870,103 (GRCm39) Y991C possibly damaging Het
Shank1 G A 7: 44,006,240 (GRCm39) E1986K possibly damaging Het
Slc22a14 A G 9: 119,001,149 (GRCm39) F482L probably benign Het
Slc35e3 T A 10: 117,581,767 (GRCm39) M109L probably benign Het
Slco4c1 T C 1: 96,799,809 (GRCm39) N9S probably damaging Het
Slco6b1 C T 1: 96,875,356 (GRCm39) noncoding transcript Het
Sptan1 A G 2: 29,920,613 (GRCm39) probably null Het
Sptlc2 T C 12: 87,388,545 (GRCm39) probably null Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Strip1 A C 3: 107,528,757 (GRCm39) L391R possibly damaging Het
Tacr1 T A 6: 82,534,134 (GRCm39) S387T probably benign Het
Thbs2 A T 17: 14,908,125 (GRCm39) F213I probably damaging Het
Thbs3 A T 3: 89,131,704 (GRCm39) Y692F probably benign Het
Tktl2 C A 8: 66,966,299 (GRCm39) A619E probably benign Het
Tmc3 A T 7: 83,271,686 (GRCm39) E946V possibly damaging Het
Tmem132d A G 5: 127,861,964 (GRCm39) V719A possibly damaging Het
Trpa1 T C 1: 14,968,302 (GRCm39) H488R probably damaging Het
Tsfm TCACTCC TCACTCCACTCC 10: 126,858,706 (GRCm39) probably null Het
Wdr35 A G 12: 9,056,723 (GRCm39) T503A possibly damaging Het
Zfp109 T C 7: 23,928,126 (GRCm39) K436E probably damaging Het
Zfp423 A G 8: 88,585,990 (GRCm39) Y78H probably damaging Het
Zfp970 A G 2: 177,165,151 (GRCm39) K26E probably 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
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
Predicted Primers PCR Primer
(F):5'- CCTTCAGGAGTCACAGAGTCAAG -3'
(R):5'- CAGTCTGAGAAGCTTTAGGGG -3'

Sequencing Primer
(F):5'- GTCACAGAGTCAAGGGACAG -3'
(R):5'- TTCTTGAAAAGCCGGCAGTG -3'
Posted On 2017-10-24