Incidental Mutation 'R7213:Adam17'
ID 561239
Institutional Source Beutler Lab
Gene Symbol Adam17
Ensembl Gene ENSMUSG00000052593
Gene Name a disintegrin and metallopeptidase domain 17
Synonyms CD156b, Tace
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 21373510-21423633 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 21386679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 452 (Y452*)
Ref Sequence ENSEMBL: ENSMUSP00000099087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064536] [ENSMUST00000101551] [ENSMUST00000127974] [ENSMUST00000145118] [ENSMUST00000232107] [ENSMUST00000232526]
AlphaFold Q9Z0F8
Predicted Effect probably null
Transcript: ENSMUST00000064536
AA Change: Y433*
SMART Domains Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: Y433*

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 null
Transcript: ENSMUST00000101551
AA Change: Y452*
SMART Domains Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: Y452*

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 probably null
Transcript: ENSMUST00000145118
AA Change: Y433*
SMART Domains Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593
AA Change: Y433*

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 probably benign
Transcript: ENSMUST00000232107
Predicted Effect probably benign
Transcript: ENSMUST00000232526
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S probably 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
R0014:Adam17 UTSW 12 21,386,645 (GRCm39) missense probably benign 0.36
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
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
Predicted Primers PCR Primer
(F):5'- AGGGACCCAAACTTACATGTG -3'
(R):5'- AAAATATAGCCTGGGCCCAACTG -3'

Sequencing Primer
(F):5'- TAAAAGCACCCTTAAGATGAGCTTC -3'
(R):5'- CCCAACTGGCAAAAATAACTGATG -3'
Posted On 2019-06-26