Incidental Mutation 'R2020:Adam17'
ID 223871
Institutional Source Beutler Lab
Gene Symbol Adam17
Ensembl Gene ENSMUSG00000052593
Gene Name a disintegrin and metallopeptidase domain 17
Synonyms CD156b, Tace
MMRRC Submission 040029-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R2020 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 21373510-21423633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21399876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 177 (R177C)
Ref Sequence ENSEMBL: ENSMUSP00000136407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064536] [ENSMUST00000101551] [ENSMUST00000127974] [ENSMUST00000142092] [ENSMUST00000145118] [ENSMUST00000232526] [ENSMUST00000232107]
AlphaFold Q9Z0F8
Predicted Effect probably damaging
Transcript: ENSMUST00000064536
AA Change: R177C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: R177C

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 damaging
Transcript: ENSMUST00000101551
AA Change: R177C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: R177C

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 damaging
Transcript: ENSMUST00000127974
AA Change: R177C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136677
Gene: ENSMUSG00000052593
AA Change: R177C

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 25 167 9.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142092
SMART Domains Protein: ENSMUSP00000136255
Gene: ENSMUSG00000052593

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145118
AA Change: R177C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593
AA Change: R177C

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: ENSMUST00000158372
Predicted Effect probably benign
Transcript: ENSMUST00000232526
Predicted Effect probably benign
Transcript: ENSMUST00000232107
Meta Mutation Damage Score 0.6201 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 99% (87/88)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik C A 1: 158,796,482 (GRCm39) noncoding transcript Het
Ak7 G A 12: 105,711,591 (GRCm39) probably null Het
Akap9 T C 5: 4,011,967 (GRCm39) V890A probably damaging Het
Alg6 A G 4: 99,626,369 (GRCm39) N59S probably damaging Het
Alkbh5 G T 11: 60,429,375 (GRCm39) A43S probably benign Het
Anxa2 C A 9: 69,391,099 (GRCm39) D162E probably damaging Het
Arap1 A G 7: 101,050,725 (GRCm39) H1136R probably benign Het
Arhgap18 A G 10: 26,730,900 (GRCm39) R121G probably benign Het
Arhgef4 A T 1: 34,762,891 (GRCm39) T716S unknown Het
Atg2a T C 19: 6,300,299 (GRCm39) probably null Het
Ccdc27 T C 4: 154,117,770 (GRCm39) I480V probably null Het
Cdipt T C 7: 126,576,105 (GRCm39) V20A possibly damaging Het
Cgrrf1 C T 14: 47,067,902 (GRCm39) probably benign Het
Chd7 G A 4: 8,855,226 (GRCm39) V2152I probably benign Het
Chd8 T A 14: 52,452,698 (GRCm39) S1274C probably damaging Het
Chuk A T 19: 44,095,782 (GRCm39) M17K possibly damaging Het
Col14a1 C T 15: 55,309,577 (GRCm39) probably benign Het
Col20a1 G A 2: 180,654,956 (GRCm39) probably null Het
Cped1 A G 6: 22,143,963 (GRCm39) I570V probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Ddx27 A C 2: 166,875,691 (GRCm39) Q674P probably damaging Het
Dennd6a T A 14: 26,333,158 (GRCm39) F131L probably damaging Het
Dhx38 G A 8: 110,283,501 (GRCm39) probably benign Het
Dido1 G T 2: 180,301,378 (GRCm39) N2175K unknown Het
Dmxl1 T A 18: 50,022,625 (GRCm39) Y1654* probably null Het
Dock7 T A 4: 98,847,338 (GRCm39) H1658L probably damaging Het
Dync2h1 T A 9: 7,122,772 (GRCm39) E2061D probably damaging Het
Dync2h1 T C 9: 7,162,925 (GRCm39) I555V probably benign Het
Eif2ak2 T C 17: 79,171,392 (GRCm39) E337G possibly damaging Het
Fabp12 T A 3: 10,315,209 (GRCm39) D46V probably benign Het
Fcgbpl1 T C 7: 27,855,019 (GRCm39) S1882P probably benign Het
Fech C T 18: 64,611,798 (GRCm39) E79K probably damaging Het
Flnc A T 6: 29,444,362 (GRCm39) I693F probably damaging Het
Foxp2 G A 6: 15,324,643 (GRCm39) C97Y possibly damaging Het
Grin2b A G 6: 135,710,894 (GRCm39) M884T probably benign Het
Gtf2ird1 T C 5: 134,445,947 (GRCm39) D28G probably damaging Het
Gtf3c4 C A 2: 28,723,906 (GRCm39) G468W possibly damaging Het
Ift172 A T 5: 31,424,585 (GRCm39) L201* probably null Het
Ift70a1 A G 2: 75,811,279 (GRCm39) V268A probably benign Het
Il1rl2 C A 1: 40,404,374 (GRCm39) S498R probably damaging Het
Ildr1 C T 16: 36,545,903 (GRCm39) R489W probably damaging Het
Itga10 G A 3: 96,559,806 (GRCm39) G487D probably damaging Het
Klk1b8 A G 7: 43,448,640 (GRCm39) N128D probably benign Het
Lgr6 G A 1: 135,003,013 (GRCm39) T79M probably damaging Het
Med6 T C 12: 81,620,651 (GRCm39) T232A probably benign Het
Mgat4e A G 1: 134,469,060 (GRCm39) L328P probably damaging Het
Mttp A G 3: 137,824,163 (GRCm39) Y138H probably damaging Het
Ngef T C 1: 87,473,690 (GRCm39) R31G probably benign Het
Nipsnap2 C A 5: 129,830,287 (GRCm39) probably null Het
Nlgn2 G T 11: 69,719,267 (GRCm39) N194K probably damaging Het
Or1q1 G A 2: 36,887,664 (GRCm39) V281M possibly damaging Het
Or4a72 A T 2: 89,405,305 (GRCm39) M255K possibly damaging Het
Or5b98 G A 19: 12,931,696 (GRCm39) V248I possibly damaging Het
Or5m13b A G 2: 85,754,087 (GRCm39) I158M probably benign Het
Or8c16 A G 9: 38,130,728 (GRCm39) Y203C possibly damaging Het
Pcca T A 14: 123,050,634 (GRCm39) M101K possibly damaging Het
Plekha6 A G 1: 133,212,708 (GRCm39) T671A possibly damaging Het
Prex2 G A 1: 11,232,536 (GRCm39) V868M probably damaging Het
Prkcq G A 2: 11,284,332 (GRCm39) V501I probably benign Het
Prom1 T A 5: 44,168,595 (GRCm39) probably benign Het
Ptprd A G 4: 76,051,398 (GRCm39) V41A probably damaging Het
Rab39 C T 9: 53,597,698 (GRCm39) G189E possibly damaging Het
Ret T C 6: 118,157,343 (GRCm39) K236E possibly damaging Het
Rfx6 G A 10: 51,596,153 (GRCm39) probably null Het
Rnf213 A G 11: 119,352,744 (GRCm39) T3916A probably damaging Het
Rpn1 A G 6: 88,072,665 (GRCm39) N336S probably damaging Het
Sag G A 1: 87,733,037 (GRCm39) A2T probably damaging Het
Sco2 T C 15: 89,256,063 (GRCm39) Y197C probably damaging Het
Sec23b T C 2: 144,408,864 (GRCm39) I183T possibly damaging Het
Sec24b C T 3: 129,781,377 (GRCm39) V1166M probably damaging Het
Slc27a5 A T 7: 12,727,339 (GRCm39) F361Y probably damaging Het
Spaca9 A G 2: 28,586,013 (GRCm39) L17P probably damaging Het
Sqor T C 2: 122,646,027 (GRCm39) probably null Het
Stx18 A G 5: 38,292,588 (GRCm39) H230R probably damaging Het
Tas2r130 A T 6: 131,607,732 (GRCm39) I21N probably damaging Het
Tcaf3 A G 6: 42,570,658 (GRCm39) S365P possibly damaging Het
Tinagl1 G A 4: 130,060,765 (GRCm39) H351Y probably damaging Het
Tmc2 T C 2: 130,074,305 (GRCm39) Y333H probably damaging Het
Trp53bp2 A T 1: 182,270,384 (GRCm39) T395S probably damaging Het
Tsc22d1 T C 14: 76,655,773 (GRCm39) S751P probably damaging Het
Ttn A G 2: 76,657,368 (GRCm39) probably benign Het
Ugdh T C 5: 65,574,268 (GRCm39) Y425C probably damaging Het
Vmn1r115 G A 7: 20,578,094 (GRCm39) L273F probably null Het
Vmn2r109 A T 17: 20,761,448 (GRCm39) C636* probably null Het
Vmn2r59 A C 7: 41,693,203 (GRCm39) Y466D probably damaging Het
Zic5 C T 14: 122,702,242 (GRCm39) G163D unknown 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
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
Predicted Primers PCR Primer
(F):5'- CTGTAACAAAACTGTATTTTCAGACCA -3'
(R):5'- AGAAACTGTAAGATTAAACAAGCACT -3'

Sequencing Primer
(F):5'- GTTCGATTCCCAGTAACCACATGATG -3'
(R):5'- CCAAGAACAAAGAATGTTGTG -3'
Posted On 2014-08-25