Incidental Mutation 'R0443:Adam18'
ID 39279
Institutional Source Beutler Lab
Gene Symbol Adam18
Ensembl Gene ENSMUSG00000031552
Gene Name a disintegrin and metallopeptidase domain 18
Synonyms Dtgn3, Adam27
MMRRC Submission 038644-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0443 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 25092262-25164771 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 25119653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000138232] [ENSMUST00000173833]
AlphaFold Q9R157
Predicted Effect probably null
Transcript: ENSMUST00000033957
SMART Domains Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552

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
SMART Domains Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b G T 5: 26,053,409 (GRCm39) R246L probably damaging Het
Ankhd1 A G 18: 36,777,652 (GRCm39) S1612G possibly damaging Het
Caskin1 C T 17: 24,724,374 (GRCm39) A1054V probably damaging Het
Casz1 T C 4: 149,033,368 (GRCm39) V1380A possibly damaging Het
Ccn2 T C 10: 24,471,701 (GRCm39) probably benign Het
Cnot6l T G 5: 96,239,604 (GRCm39) probably benign Het
Crat T C 2: 30,293,640 (GRCm39) probably benign Het
Cux2 C T 5: 122,025,500 (GRCm39) R56H possibly damaging Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Dync2h1 G T 9: 7,167,244 (GRCm39) probably null Het
Epg5 T C 18: 77,999,118 (GRCm39) probably benign Het
Ergic3 G A 2: 155,858,707 (GRCm39) V278M probably benign Het
Fam20b A T 1: 156,509,023 (GRCm39) D396E probably benign Het
Gapvd1 A G 2: 34,594,633 (GRCm39) probably benign Het
Golga1 A T 2: 38,908,453 (GRCm39) S749T probably damaging Het
Gsdma2 C T 11: 98,548,514 (GRCm39) T255I probably damaging Het
Itga1 T A 13: 115,128,996 (GRCm39) D554V probably benign Het
Itgam C T 7: 127,680,806 (GRCm39) A245V probably damaging Het
Kcnk15 A G 2: 163,700,243 (GRCm39) T161A probably benign Het
Map3k19 A T 1: 127,750,152 (GRCm39) N1066K probably benign Het
Ms4a6b A G 19: 11,499,044 (GRCm39) I53V possibly damaging Het
Mtf1 C T 4: 124,718,075 (GRCm39) probably benign Het
Neb T C 2: 52,051,489 (GRCm39) probably null Het
Nop9 A G 14: 55,991,205 (GRCm39) S621G probably benign Het
Or1e19 A G 11: 73,316,581 (GRCm39) V76A probably damaging Het
Or5p60 A G 7: 107,724,023 (GRCm39) V149A probably benign Het
Or9a2 T A 6: 41,748,829 (GRCm39) I135F possibly damaging Het
Pacs1 A T 19: 5,322,611 (GRCm39) Y102* probably null Het
Pcdhb10 A C 18: 37,545,485 (GRCm39) D187A probably damaging Het
Pih1d2 A G 9: 50,532,403 (GRCm39) R170G possibly damaging Het
Pikfyve A G 1: 65,235,865 (GRCm39) H179R probably damaging Het
Pknox1 A G 17: 31,811,193 (GRCm39) S156G probably damaging Het
Prkcz T A 4: 155,353,597 (GRCm39) D250V probably damaging Het
Psg16 T A 7: 16,829,088 (GRCm39) I224N probably benign Het
Ro60 A G 1: 143,641,661 (GRCm39) probably benign Het
Slc25a40 T A 5: 8,497,348 (GRCm39) S229T probably benign Het
Slc43a2 T C 11: 75,435,493 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tas2r129 G T 6: 132,928,159 (GRCm39) C32F probably benign Het
Tfap2d C T 1: 19,174,591 (GRCm39) R15C possibly damaging Het
Tonsl T C 15: 76,523,884 (GRCm39) S39G probably benign Het
Trpc2 A G 7: 101,742,727 (GRCm39) probably benign Het
Ttc17 A G 2: 94,208,439 (GRCm39) F144S probably benign Het
Twnk G T 19: 44,996,578 (GRCm39) G337V possibly damaging Het
Uvssa A G 5: 33,546,168 (GRCm39) R180G possibly damaging Het
Vmn1r197 T A 13: 22,512,241 (GRCm39) I54K possibly damaging Het
Vmn1r71 G A 7: 10,482,238 (GRCm39) T84I probably benign Het
Zbtb49 T C 5: 38,358,174 (GRCm39) E693G 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
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
R1510:Adam18 UTSW 8 25,115,847 (GRCm39) missense probably benign 0.01
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'- TGCACATGCACACATCAGTCTACTC -3'
(R):5'- TTATGACATTGGCAGGCTGCCC -3'

Sequencing Primer
(F):5'- tgggagggagaggcagg -3'
(R):5'- TGAAAAAAGCACGCCCATTTTG -3'
Posted On 2013-05-23