Incidental Mutation 'R1510:Adam18'
ID 167852
Institutional Source Beutler Lab
Gene Symbol Adam18
Ensembl Gene ENSMUSG00000031552
Gene Name a disintegrin and metallopeptidase domain 18
Synonyms Dtgn3, Adam27
MMRRC Submission 039557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1510 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 25092262-25164771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25115847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 616 (T616S)
Ref Sequence ENSEMBL: ENSMUSP00000133378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000138232] [ENSMUST00000173833]
AlphaFold Q9R157
Predicted Effect probably benign
Transcript: ENSMUST00000033957
AA Change: T616S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: T616S

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 15 140 1.7e-25 PFAM
Pfam:Reprolysin 180 377 1.1e-57 PFAM
DISIN 396 474 1.03e-35 SMART
ACR 475 613 1.12e-51 SMART
transmembrane domain 684 703 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138232
Predicted Effect probably benign
Transcript: ENSMUST00000173833
AA Change: T616S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: T616S

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 15 140 9.5e-35 PFAM
Pfam:Reprolysin 180 378 7.7e-56 PFAM
DISIN 396 474 1.03e-35 SMART
ACR 475 613 1.12e-51 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (79/79)
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 expressed in a regulated fashion during early stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with that of controls. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,073,181 (GRCm39) L326S probably damaging Het
Adam22 T C 5: 8,202,408 (GRCm39) K215E probably benign Het
Ahi1 T G 10: 20,835,699 (GRCm39) S11A probably benign Het
Asb18 T C 1: 89,923,976 (GRCm39) M96V possibly damaging Het
Baz2b T C 2: 59,752,553 (GRCm39) D1149G probably damaging Het
C1qtnf3 A G 15: 10,975,722 (GRCm39) E176G probably benign Het
Cd151 T A 7: 141,050,280 (GRCm39) S172T probably benign Het
Cdh2 G T 18: 16,781,651 (GRCm39) L90I probably benign Het
Cdkl3 T C 11: 51,924,341 (GRCm39) V55A possibly damaging Het
Cfap90 T A 13: 68,745,596 (GRCm39) M1K probably null Het
Chst8 T A 7: 34,374,693 (GRCm39) H382L probably benign Het
Cyb5r4 T C 9: 86,948,696 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,950,209 (GRCm39) D264G possibly damaging Het
Daam1 A G 12: 72,024,500 (GRCm39) M814V probably damaging Het
Ddx19b A G 8: 111,742,285 (GRCm39) I150T probably damaging Het
Dync1li1 T G 9: 114,518,278 (GRCm39) S50A possibly damaging Het
Fat3 A T 9: 15,871,351 (GRCm39) L3680Q probably damaging Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Gm21286 T G 4: 60,794,931 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,060 (GRCm39) Y126H probably damaging Het
Inhba G T 13: 16,201,607 (GRCm39) V390L probably damaging Het
Ino80 C T 2: 119,280,530 (GRCm39) R278H probably damaging Het
Jade3 T G X: 20,384,057 (GRCm39) N799K probably benign Het
Kcnn1 G A 8: 71,316,714 (GRCm39) probably benign Het
Klhl6 T C 16: 19,765,848 (GRCm39) T585A probably damaging Het
Kmt2d T A 15: 98,754,258 (GRCm39) probably benign Het
Krt17 C T 11: 100,148,365 (GRCm39) E359K possibly damaging Het
Lce1b T G 3: 92,563,283 (GRCm39) R83S unknown Het
Lck T C 4: 129,449,461 (GRCm39) S290G possibly damaging Het
Ltbp3 T C 19: 5,798,915 (GRCm39) S544P probably benign Het
Lypd6b T A 2: 49,824,831 (GRCm39) S4R probably damaging Het
Macf1 T C 4: 123,328,555 (GRCm39) D4724G probably null Het
Mcoln2 A G 3: 145,882,365 (GRCm39) T255A probably benign Het
Mcph1 T A 8: 18,682,703 (GRCm39) probably null Het
Mki67 C A 7: 135,297,900 (GRCm39) R2378L probably benign Het
Mxd1 A G 6: 86,630,137 (GRCm39) V27A possibly damaging Het
Myo5a T C 9: 75,078,833 (GRCm39) Y864H probably benign Het
Ndel1 A T 11: 68,713,482 (GRCm39) N318K possibly damaging Het
Oasl1 A G 5: 115,066,167 (GRCm39) Q95R probably benign Het
Or5ac16 A T 16: 59,022,546 (GRCm39) M81K probably damaging Het
Or5j3 T C 2: 86,128,715 (GRCm39) L185P probably damaging Het
Or5p57 T C 7: 107,665,735 (GRCm39) Y60C probably damaging Het
Or6b2b A T 1: 92,419,339 (GRCm39) I46N probably damaging Het
Parp10 T A 15: 76,125,617 (GRCm39) Q487L probably damaging Het
Pcdh10 C T 3: 45,333,838 (GRCm39) R51C probably damaging Het
Pdpr A T 8: 111,851,107 (GRCm39) probably benign Het
Pfpl A T 19: 12,407,060 (GRCm39) D437V probably benign Het
Pik3c2a G A 7: 115,987,280 (GRCm39) T547I probably benign Het
Pkdrej A C 15: 85,700,963 (GRCm39) S1658A possibly damaging Het
Pkn3 T C 2: 29,969,776 (GRCm39) probably null Het
Plekhh2 A G 17: 84,867,004 (GRCm39) probably null Het
Plxdc1 A T 11: 97,823,150 (GRCm39) C357S probably damaging Het
Pnp A G 14: 51,188,042 (GRCm39) T132A possibly damaging Het
Prorp A T 12: 55,350,997 (GRCm39) Q102L probably benign Het
Rcan2 A G 17: 44,147,315 (GRCm39) D51G probably damaging Het
Rcn1 T C 2: 105,219,434 (GRCm39) N253S probably damaging Het
Rreb1 T A 13: 38,115,860 (GRCm39) I1073N probably benign Het
Scaf4 G T 16: 90,042,282 (GRCm39) D686E unknown Het
Sfxn5 A C 6: 85,213,907 (GRCm39) M221R probably damaging Het
Slc38a1 A G 15: 96,507,741 (GRCm39) F104L probably damaging Het
Slc8a1 A T 17: 81,955,547 (GRCm39) V497D probably damaging Het
Spryd3 C A 15: 102,027,396 (GRCm39) G290C probably damaging Het
Stc2 A T 11: 31,315,418 (GRCm39) Y140* probably null Het
Stfa2 A T 16: 36,228,673 (GRCm39) I8K possibly damaging Het
Sult3a2 A T 10: 33,658,026 (GRCm39) M29K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Triobp G A 15: 78,887,967 (GRCm39) R1908Q probably damaging Het
Trpm2 T A 10: 77,802,828 (GRCm39) R7* probably null Het
Ttn T C 2: 76,782,501 (GRCm39) I912V probably benign Het
Tusc2 T A 9: 107,442,080 (GRCm39) V93E probably damaging Het
Uhrf2 T A 19: 30,016,461 (GRCm39) probably benign Het
Umodl1 G A 17: 31,178,203 (GRCm39) V60M probably damaging Het
Ush2a A T 1: 188,380,501 (GRCm39) D2270V probably damaging Het
Vmn2r80 A G 10: 79,005,553 (GRCm39) T397A possibly damaging Het
Wbp2 A G 11: 115,977,708 (GRCm39) V15A probably benign Het
Zfp182 T A X: 20,896,446 (GRCm39) R617W probably damaging Het
Zfp82 C A 7: 29,756,047 (GRCm39) R345L probably damaging Het
Zfp85 T C 13: 67,903,084 (GRCm39) probably benign Het
Other mutations in Adam18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Adam18 APN 8 25,118,149 (GRCm39) missense probably damaging 1.00
IGL01649:Adam18 APN 8 25,104,912 (GRCm39) missense possibly damaging 0.82
IGL02212:Adam18 APN 8 25,127,195 (GRCm39) missense probably benign 0.02
IGL02455:Adam18 APN 8 25,141,864 (GRCm39) missense probably damaging 0.96
IGL02525:Adam18 APN 8 25,131,783 (GRCm39) splice site probably benign
IGL02525:Adam18 APN 8 25,101,060 (GRCm39) missense probably benign 0.00
IGL02966:Adam18 APN 8 25,101,165 (GRCm39) splice site probably benign
IGL03136:Adam18 APN 8 25,131,852 (GRCm39) missense probably damaging 1.00
G5030:Adam18 UTSW 8 25,141,872 (GRCm39) missense probably benign 0.24
R0135:Adam18 UTSW 8 25,155,558 (GRCm39) missense possibly damaging 0.71
R0280:Adam18 UTSW 8 25,164,070 (GRCm39) missense probably benign 0.06
R0389:Adam18 UTSW 8 25,119,653 (GRCm39) splice site probably null
R0390:Adam18 UTSW 8 25,164,070 (GRCm39) missense probably benign 0.06
R0443:Adam18 UTSW 8 25,119,653 (GRCm39) splice site probably null
R0479:Adam18 UTSW 8 25,141,838 (GRCm39) missense probably benign
R0578:Adam18 UTSW 8 25,131,863 (GRCm39) missense possibly damaging 0.82
R0645:Adam18 UTSW 8 25,162,136 (GRCm39) nonsense probably null
R0881:Adam18 UTSW 8 25,162,159 (GRCm39) splice site probably benign
R0885:Adam18 UTSW 8 25,141,802 (GRCm39) missense probably damaging 1.00
R0973:Adam18 UTSW 8 25,137,869 (GRCm39) missense probably benign 0.01
R0973:Adam18 UTSW 8 25,137,869 (GRCm39) missense probably benign 0.01
R0974:Adam18 UTSW 8 25,137,869 (GRCm39) missense probably benign 0.01
R1005:Adam18 UTSW 8 25,155,530 (GRCm39) missense probably benign 0.05
R1356:Adam18 UTSW 8 25,158,611 (GRCm39) splice site probably benign
R1552:Adam18 UTSW 8 25,136,377 (GRCm39) missense probably benign
R1568:Adam18 UTSW 8 25,137,799 (GRCm39) splice site probably null
R1639:Adam18 UTSW 8 25,142,168 (GRCm39) missense probably benign 0.00
R1968:Adam18 UTSW 8 25,136,463 (GRCm39) missense probably benign 0.32
R2029:Adam18 UTSW 8 25,140,893 (GRCm39) missense probably damaging 1.00
R2058:Adam18 UTSW 8 25,162,082 (GRCm39) splice site probably benign
R2211:Adam18 UTSW 8 25,118,171 (GRCm39) missense probably damaging 0.96
R2237:Adam18 UTSW 8 25,136,303 (GRCm39) missense probably benign 0.01
R2238:Adam18 UTSW 8 25,136,303 (GRCm39) missense probably benign 0.01
R2239:Adam18 UTSW 8 25,136,303 (GRCm39) missense probably benign 0.01
R2518:Adam18 UTSW 8 25,127,157 (GRCm39) missense probably damaging 1.00
R3122:Adam18 UTSW 8 25,118,248 (GRCm39) missense possibly damaging 0.74
R3426:Adam18 UTSW 8 25,157,620 (GRCm39) missense probably damaging 1.00
R3428:Adam18 UTSW 8 25,157,620 (GRCm39) missense probably damaging 1.00
R3967:Adam18 UTSW 8 25,119,726 (GRCm39) missense probably benign 0.12
R4833:Adam18 UTSW 8 25,164,117 (GRCm39) missense probably benign 0.01
R4965:Adam18 UTSW 8 25,131,827 (GRCm39) missense probably damaging 1.00
R5249:Adam18 UTSW 8 25,115,868 (GRCm39) missense probably benign 0.00
R5534:Adam18 UTSW 8 25,155,530 (GRCm39) missense probably benign 0.05
R5920:Adam18 UTSW 8 25,164,091 (GRCm39) missense probably damaging 1.00
R6329:Adam18 UTSW 8 25,104,843 (GRCm39) missense probably damaging 1.00
R6450:Adam18 UTSW 8 25,119,691 (GRCm39) missense probably benign 0.05
R6479:Adam18 UTSW 8 25,119,681 (GRCm39) missense probably benign 0.29
R6516:Adam18 UTSW 8 25,164,703 (GRCm39) missense probably damaging 1.00
R6603:Adam18 UTSW 8 25,155,518 (GRCm39) missense possibly damaging 0.63
R7194:Adam18 UTSW 8 25,141,868 (GRCm39) missense possibly damaging 0.67
R7226:Adam18 UTSW 8 25,137,824 (GRCm39) missense probably damaging 1.00
R7266:Adam18 UTSW 8 25,157,639 (GRCm39) missense probably benign 0.00
R7397:Adam18 UTSW 8 25,136,321 (GRCm39) missense possibly damaging 0.48
R7575:Adam18 UTSW 8 25,115,873 (GRCm39) missense possibly damaging 0.50
R7786:Adam18 UTSW 8 25,101,134 (GRCm39) missense probably benign 0.00
R7872:Adam18 UTSW 8 25,101,116 (GRCm39) missense probably benign 0.00
R8069:Adam18 UTSW 8 25,118,246 (GRCm39) missense possibly damaging 0.96
R8411:Adam18 UTSW 8 25,142,143 (GRCm39) missense probably damaging 1.00
R8713:Adam18 UTSW 8 25,142,189 (GRCm39) missense probably benign 0.22
R8785:Adam18 UTSW 8 25,140,911 (GRCm39) missense probably damaging 0.97
R8803:Adam18 UTSW 8 25,137,878 (GRCm39) missense probably benign 0.02
R8882:Adam18 UTSW 8 25,136,438 (GRCm39) missense probably benign 0.25
R8944:Adam18 UTSW 8 25,164,703 (GRCm39) missense probably damaging 1.00
R9000:Adam18 UTSW 8 25,127,162 (GRCm39) missense probably benign 0.27
R9184:Adam18 UTSW 8 25,137,847 (GRCm39) missense probably benign 0.22
R9258:Adam18 UTSW 8 25,158,574 (GRCm39) missense probably benign 0.05
R9306:Adam18 UTSW 8 25,136,420 (GRCm39) missense possibly damaging 0.74
R9377:Adam18 UTSW 8 25,104,859 (GRCm39) nonsense probably null
R9472:Adam18 UTSW 8 25,127,248 (GRCm39) missense probably benign 0.04
R9476:Adam18 UTSW 8 25,115,807 (GRCm39) missense probably benign 0.18
R9508:Adam18 UTSW 8 25,143,778 (GRCm39) missense possibly damaging 0.88
R9567:Adam18 UTSW 8 25,118,210 (GRCm39) missense probably benign 0.25
R9603:Adam18 UTSW 8 25,118,147 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- AGGAGAGCCACAGATCTTGCCAAC -3'
(R):5'- CGTGTGATCTCCATCAGCTCTGAAC -3'

Sequencing Primer
(F):5'- TAGCATCAGAGTAGCTCACTTGG -3'
(R):5'- GCTCTGAACAAACACTGCTATTG -3'
Posted On 2014-04-13