Incidental Mutation 'R0014:Adam17'
ID 8006
Institutional Source Beutler Lab
Gene Symbol Adam17
Ensembl Gene ENSMUSG00000052593
Gene Name a disintegrin and metallopeptidase domain 17
Synonyms CD156b, Tace
MMRRC Submission 038309-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R0014 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 21373510-21423633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21386645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 445 (E445K)
Ref Sequence ENSEMBL: ENSMUSP00000136407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064536] [ENSMUST00000101551] [ENSMUST00000127974] [ENSMUST00000145118] [ENSMUST00000232526] [ENSMUST00000232107]
AlphaFold Q9Z0F8
Predicted Effect probably benign
Transcript: ENSMUST00000064536
AA Change: E445K

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: E445K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 28 167 1.1e-11 PFAM
Pfam:Reprolysin_5 221 451 6.7e-37 PFAM
Pfam:Reprolysin_4 221 469 3.2e-24 PFAM
Pfam:Reprolysin_2 244 464 8.8e-29 PFAM
Pfam:Reprolysin_3 248 416 1.2e-12 PFAM
Pfam:Reprolysin 383 474 3.1e-9 PFAM
DISIN 484 561 6.27e-26 SMART
PDB:2M2F|A 581 642 4e-32 PDB
transmembrane domain 672 694 N/A INTRINSIC
low complexity region 739 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101551
AA Change: E464K

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: E464K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 167 9.7e-15 PFAM
Pfam:Reprolysin_5 221 470 5e-34 PFAM
Pfam:Reprolysin_4 221 488 6.1e-20 PFAM
Pfam:Reprolysin_2 264 483 2.6e-34 PFAM
Pfam:Reprolysin_3 267 435 2.8e-14 PFAM
Pfam:Reprolysin 330 493 5.3e-9 PFAM
DISIN 503 580 6.27e-26 SMART
Pfam:ADAM17_MPD 600 661 1e-23 PFAM
transmembrane domain 691 713 N/A INTRINSIC
low complexity region 758 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127974
SMART Domains Protein: ENSMUSP00000136677
Gene: ENSMUSG00000052593

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 25 167 9.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132339
Predicted Effect probably benign
Transcript: ENSMUST00000145118
AA Change: E445K

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593
AA Change: E445K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 28 167 7.5e-12 PFAM
Pfam:Reprolysin_5 221 451 4.2e-37 PFAM
Pfam:Reprolysin_4 221 469 2e-24 PFAM
Pfam:Reprolysin_2 244 464 5.6e-29 PFAM
Pfam:Reprolysin_3 248 416 7.8e-13 PFAM
Pfam:Reprolysin 381 474 2.2e-9 PFAM
DISIN 484 561 6.27e-26 SMART
PDB:2M2F|A 581 638 5e-29 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155115
Predicted Effect probably benign
Transcript: ENSMUST00000232526
Predicted Effect probably benign
Transcript: ENSMUST00000232107
Meta Mutation Damage Score 0.1269 question?
Coding Region Coverage
  • 1x: 75.1%
  • 3x: 61.1%
  • 10x: 30.7%
  • 20x: 14.1%
Validation Efficiency 90% (62/69)
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 enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero or fail to survive beyond one week of age. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted, knock-out(2) Targeted, other(3) Gene trapped(8)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,250,547 (GRCm39) V399A possibly damaging Het
Ankrd52 C A 10: 128,222,321 (GRCm39) T583K probably benign Het
Ccr5 T C 9: 123,924,658 (GRCm39) F87S probably damaging Het
Clcc1 T A 3: 108,568,712 (GRCm39) C10* probably null Het
Cngb3 T C 4: 19,396,685 (GRCm39) I346T probably benign Het
Degs1l T C 1: 180,882,696 (GRCm39) F153L possibly damaging Het
Dmbx1 G T 4: 115,775,221 (GRCm39) T358K probably damaging Het
Dnai3 T C 3: 145,787,178 (GRCm39) probably null Het
Dpyd T C 3: 118,935,584 (GRCm39) S670P probably damaging Het
Epc2 A T 2: 49,412,537 (GRCm39) K172* probably null Het
Exog T C 9: 119,281,344 (GRCm39) I218T probably damaging Het
F2rl2 A T 13: 95,837,417 (GRCm39) N154I probably damaging Het
Fbxo30 T A 10: 11,165,603 (GRCm39) Y108* probably null Het
Fhad1 A T 4: 141,655,719 (GRCm39) L795Q probably damaging Het
Fyttd1 G A 16: 32,725,924 (GRCm39) R175Q probably damaging Het
Gbp5 T A 3: 142,212,496 (GRCm39) C395S probably damaging Het
Gen1 T C 12: 11,291,642 (GRCm39) N716D probably benign Het
Gucy1b1 T C 3: 81,947,168 (GRCm39) D347G probably damaging Het
Helz2 A G 2: 180,882,304 (GRCm39) L163P probably damaging Het
Hmox2 T A 16: 4,582,897 (GRCm39) L210Q probably damaging Het
Khdrbs3 A G 15: 68,896,684 (GRCm39) T115A probably benign Het
Lrrk2 T C 15: 91,686,248 (GRCm39) probably benign Het
Ncoa6 A C 2: 155,279,963 (GRCm39) S18A possibly damaging Het
Neb G A 2: 52,177,168 (GRCm39) A1391V probably damaging Het
Nek6 T C 2: 38,448,856 (GRCm39) probably benign Het
Pclo C T 5: 14,730,465 (GRCm39) probably benign Het
Pex1 G A 5: 3,676,141 (GRCm39) probably benign Het
Pi4kb T G 3: 94,906,208 (GRCm39) I612S probably damaging Het
Pitx2 T G 3: 129,012,148 (GRCm39) S193A possibly damaging Het
Psma8 A G 18: 14,859,587 (GRCm39) I86V possibly damaging Het
Slc7a2 T C 8: 41,364,065 (GRCm39) L426P probably damaging Het
Tut1 T A 19: 8,939,811 (GRCm39) L265Q possibly damaging Het
Zfp458 A G 13: 67,406,154 (GRCm39) V95A possibly damaging Het
Other mutations in Adam17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Adam17 APN 12 21,378,110 (GRCm39) missense probably damaging 1.00
IGL01340:Adam17 APN 12 21,380,058 (GRCm39) nonsense probably null
IGL01973:Adam17 APN 12 21,399,944 (GRCm39) missense probably damaging 1.00
IGL02223:Adam17 APN 12 21,411,706 (GRCm39) missense possibly damaging 0.92
IGL03153:Adam17 APN 12 21,395,698 (GRCm39) missense probably damaging 1.00
Steinway UTSW 12 21,403,949 (GRCm39) missense probably damaging 1.00
wavedx UTSW 12 21,390,751 (GRCm39) missense probably damaging 1.00
R0080:Adam17 UTSW 12 21,379,049 (GRCm39) splice site probably benign
R0082:Adam17 UTSW 12 21,379,049 (GRCm39) splice site probably benign
R0324:Adam17 UTSW 12 21,399,939 (GRCm39) missense probably benign 0.00
R0511:Adam17 UTSW 12 21,390,459 (GRCm39) splice site probably benign
R0745:Adam17 UTSW 12 21,382,222 (GRCm39) splice site probably benign
R1314:Adam17 UTSW 12 21,379,072 (GRCm39) missense probably damaging 1.00
R1547:Adam17 UTSW 12 21,403,958 (GRCm39) missense probably damaging 1.00
R1594:Adam17 UTSW 12 21,390,471 (GRCm39) critical splice donor site probably null
R1607:Adam17 UTSW 12 21,384,139 (GRCm39) splice site probably null
R1812:Adam17 UTSW 12 21,411,768 (GRCm39) missense probably damaging 0.97
R2020:Adam17 UTSW 12 21,399,876 (GRCm39) missense probably damaging 1.00
R3408:Adam17 UTSW 12 21,379,119 (GRCm39) missense probably damaging 1.00
R3735:Adam17 UTSW 12 21,375,413 (GRCm39) missense probably benign 0.05
R3886:Adam17 UTSW 12 21,375,588 (GRCm39) missense probably damaging 1.00
R3888:Adam17 UTSW 12 21,375,588 (GRCm39) missense probably damaging 1.00
R4062:Adam17 UTSW 12 21,375,458 (GRCm39) missense probably damaging 1.00
R4415:Adam17 UTSW 12 21,395,702 (GRCm39) missense possibly damaging 0.90
R4563:Adam17 UTSW 12 21,382,089 (GRCm39) missense probably damaging 1.00
R4658:Adam17 UTSW 12 21,382,161 (GRCm39) missense probably damaging 1.00
R4763:Adam17 UTSW 12 21,384,016 (GRCm39) missense probably benign
R4793:Adam17 UTSW 12 21,397,396 (GRCm39) missense probably benign
R5101:Adam17 UTSW 12 21,423,406 (GRCm39) missense possibly damaging 0.85
R5120:Adam17 UTSW 12 21,393,020 (GRCm39) intron probably benign
R5514:Adam17 UTSW 12 21,390,520 (GRCm39) missense probably damaging 0.98
R5592:Adam17 UTSW 12 21,384,138 (GRCm39) missense probably damaging 1.00
R5874:Adam17 UTSW 12 21,379,087 (GRCm39) missense possibly damaging 0.76
R6110:Adam17 UTSW 12 21,403,949 (GRCm39) missense probably damaging 1.00
R6451:Adam17 UTSW 12 21,392,883 (GRCm39) missense probably benign 0.00
R6930:Adam17 UTSW 12 21,403,949 (GRCm39) missense probably damaging 1.00
R6970:Adam17 UTSW 12 21,395,669 (GRCm39) missense probably benign 0.06
R7213:Adam17 UTSW 12 21,386,679 (GRCm39) nonsense probably null
R7302:Adam17 UTSW 12 21,405,694 (GRCm39) intron probably benign
R7361:Adam17 UTSW 12 21,375,602 (GRCm39) missense probably damaging 0.98
R7667:Adam17 UTSW 12 21,383,953 (GRCm39) critical splice donor site probably null
R7799:Adam17 UTSW 12 21,390,493 (GRCm39) missense probably damaging 1.00
R8762:Adam17 UTSW 12 21,401,595 (GRCm39) missense probably benign 0.03
R8958:Adam17 UTSW 12 21,399,934 (GRCm39) missense possibly damaging 0.61
R9108:Adam17 UTSW 12 21,380,132 (GRCm39) missense probably benign
R9163:Adam17 UTSW 12 21,401,588 (GRCm39) missense probably benign 0.00
R9295:Adam17 UTSW 12 21,399,938 (GRCm39) missense probably benign 0.02
R9345:Adam17 UTSW 12 21,378,056 (GRCm39) missense probably damaging 1.00
R9444:Adam17 UTSW 12 21,375,536 (GRCm39) missense probably benign 0.28
R9522:Adam17 UTSW 12 21,395,693 (GRCm39) missense probably damaging 1.00
R9582:Adam17 UTSW 12 21,386,665 (GRCm39) missense probably benign 0.14
X0063:Adam17 UTSW 12 21,382,586 (GRCm39) missense probably benign 0.17
Z1176:Adam17 UTSW 12 21,411,738 (GRCm39) missense possibly damaging 0.94
Posted On 2012-11-20