Incidental Mutation 'R2029:Adam18'
ID 220964
Institutional Source Beutler Lab
Gene Symbol Adam18
Ensembl Gene ENSMUSG00000031552
Gene Name a disintegrin and metallopeptidase domain 18
Synonyms Dtgn3, Adam27
MMRRC Submission 040036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2029 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 25092262-25164771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 25140893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 286 (G286A)
Ref Sequence ENSEMBL: ENSMUSP00000033957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000173833]
AlphaFold Q9R157
Predicted Effect probably damaging
Transcript: ENSMUST00000033957
AA Change: G286A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: G286A

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 damaging
Transcript: ENSMUST00000173833
AA Change: G286A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: G286A

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 0.7497 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (97/99)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,089,142 (GRCm39) A519T probably benign Het
Anxa2 T A 9: 69,371,762 (GRCm39) S2T possibly damaging Het
Ap3m1 G A 14: 21,089,217 (GRCm39) S261L possibly damaging Het
Baz2b A T 2: 59,743,067 (GRCm39) probably benign Het
Brdt T A 5: 107,507,090 (GRCm39) S497T probably benign Het
Cdh11 A G 8: 103,406,404 (GRCm39) F23S probably benign Het
Cdh16 A C 8: 105,344,434 (GRCm39) L540R probably damaging Het
Ces5a A T 8: 94,261,205 (GRCm39) L74Q probably damaging Het
Cfap69 A G 5: 5,654,306 (GRCm39) S543P probably damaging Het
Cfap74 T C 4: 155,526,538 (GRCm39) I763T possibly damaging Het
Cma1 T A 14: 56,181,191 (GRCm39) R58S possibly damaging Het
Csmd3 C T 15: 47,701,975 (GRCm39) D1599N probably damaging Het
Cyld A G 8: 89,471,940 (GRCm39) K857R probably benign Het
Cyp3a16 T C 5: 145,388,667 (GRCm39) D270G probably damaging Het
D1Pas1 T C 1: 186,700,286 (GRCm39) S72P possibly damaging Het
Ddx3y T C Y: 1,266,389 (GRCm39) E331G probably benign Het
Degs1l T A 1: 180,882,496 (GRCm39) I86K probably benign Het
Dis3l2 T C 1: 86,782,189 (GRCm39) probably benign Het
Dop1a G T 9: 86,403,418 (GRCm39) W1539C probably damaging Het
Dop1b A G 16: 93,566,323 (GRCm39) K917E probably benign Het
Ecpas G A 4: 58,844,165 (GRCm39) R534* probably null Het
Efcab3 T C 11: 104,990,851 (GRCm39) I5462T probably damaging Het
Eif1ad15 A T 12: 88,288,191 (GRCm39) S21T unknown Het
Epo A G 5: 137,483,447 (GRCm39) probably benign Het
Figla T A 6: 85,997,624 (GRCm39) probably benign Het
Flvcr1 T C 1: 190,753,353 (GRCm39) D273G probably benign Het
Fryl T A 5: 73,179,465 (GRCm39) R304* probably null Het
Gcm1 T G 9: 77,972,326 (GRCm39) D422E possibly damaging Het
Get3 A T 8: 85,746,403 (GRCm39) Y148* probably null Het
Ggt6 A G 11: 72,328,367 (GRCm39) D251G possibly damaging Het
Git2 A G 5: 114,904,511 (GRCm39) probably null Het
Gm18856 A T 13: 14,139,376 (GRCm39) probably benign Het
Gm20939 T A 17: 95,183,252 (GRCm39) probably benign Het
Gpr176 A G 2: 118,109,913 (GRCm39) Y449H probably benign Het
H2-Eb1 A G 17: 34,533,366 (GRCm39) E196G probably damaging Het
H2-M10.6 A G 17: 37,124,799 (GRCm39) T239A possibly damaging Het
Haus5 T C 7: 30,358,825 (GRCm39) N237S possibly damaging Het
Hectd3 T C 4: 116,857,882 (GRCm39) M605T probably damaging Het
Hps3 T C 3: 20,084,691 (GRCm39) I166V probably benign Het
Ighv5-21 A T 12: 114,286,434 (GRCm39) probably benign Het
Kdm6b C T 11: 69,294,418 (GRCm39) G1218D unknown Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Kmt2a A T 9: 44,729,747 (GRCm39) S3523R probably benign Het
Lnpep A T 17: 17,788,661 (GRCm39) N481K probably damaging Het
Lrp1b T C 2: 41,231,861 (GRCm39) H1203R probably benign Het
Lrrc8a C T 2: 30,146,661 (GRCm39) R492W probably damaging Het
Magel2 T A 7: 62,030,342 (GRCm39) V1082D unknown Het
Memo1 A C 17: 74,552,049 (GRCm39) H82Q probably null Het
Myh13 A T 11: 67,252,115 (GRCm39) T1408S probably benign Het
Myh2 A T 11: 67,085,451 (GRCm39) N1792Y possibly damaging Het
Myo1e A T 9: 70,275,969 (GRCm39) N728I possibly damaging Het
Myo1e T C 9: 70,285,997 (GRCm39) probably benign Het
Myo5c T C 9: 75,196,337 (GRCm39) probably benign Het
Or11l3 T A 11: 58,516,319 (GRCm39) L184F probably damaging Het
Or1e19 A G 11: 73,316,188 (GRCm39) V207A probably benign Het
Or2d2b T C 7: 106,705,643 (GRCm39) I142V probably benign Het
Or4c11c T A 2: 88,661,749 (GRCm39) M96K possibly damaging Het
Or51g1 T A 7: 102,633,478 (GRCm39) T298S probably damaging Het
Or52e3 T C 7: 102,868,967 (GRCm39) F14S probably damaging Het
Parp2 C T 14: 51,047,543 (GRCm39) A18V probably benign Het
Peli1 T A 11: 21,098,110 (GRCm39) C282S probably damaging Het
Phf8-ps G T 17: 33,286,598 (GRCm39) S68* probably null Het
Piezo2 T C 18: 63,252,006 (GRCm39) M404V possibly damaging Het
Pkn1 T A 8: 84,404,592 (GRCm39) Q496L possibly damaging Het
Pla2r1 A T 2: 60,262,317 (GRCm39) F1093L probably damaging Het
Ppp2r3d A G 9: 101,022,680 (GRCm39) V323A probably damaging Het
Pramel16 T A 4: 143,676,453 (GRCm39) Y217F probably benign Het
Prg2 C T 2: 84,812,342 (GRCm39) probably benign Het
Ptprb G A 10: 116,182,958 (GRCm39) G1545S probably benign Het
Rbm19 A G 5: 120,258,307 (GRCm39) D174G possibly damaging Het
Rhbdf2 T A 11: 116,491,974 (GRCm39) T526S probably damaging Het
Rpusd4 A G 9: 35,179,310 (GRCm39) N42S probably benign Het
Ryr3 T A 2: 112,477,361 (GRCm39) Q4455L possibly damaging Het
Sema4a G T 3: 88,358,668 (GRCm39) H30Q probably damaging Het
Skint1 G A 4: 111,878,653 (GRCm39) probably null Het
Slc1a3 A G 15: 8,675,153 (GRCm39) V284A probably benign Het
Slc30a9 A T 5: 67,497,318 (GRCm39) K288* probably null Het
Slc36a1 G T 11: 55,119,164 (GRCm39) A380S probably benign Het
Slc47a1 G A 11: 61,268,833 (GRCm39) probably benign Het
Snx19 A T 9: 30,340,296 (GRCm39) E478V probably benign Het
Spag6 T C 2: 18,738,916 (GRCm39) probably benign Het
Stag1 A T 9: 100,668,740 (GRCm39) T223S probably damaging Het
Terb1 A T 8: 105,224,732 (GRCm39) probably benign Het
Terf1 A G 1: 15,876,170 (GRCm39) D90G possibly damaging Het
Tex15 A G 8: 34,061,302 (GRCm39) D518G probably damaging Het
Tmem174 T A 13: 98,773,546 (GRCm39) M95L possibly damaging Het
Tnnt3 GTCCAGGCATCTC GTC 7: 142,066,364 (GRCm39) probably benign Het
Usp28 A G 9: 48,896,803 (GRCm39) D8G probably benign Het
Vmn2r105 T C 17: 20,444,840 (GRCm39) T551A probably damaging Het
Vmn2r107 A G 17: 20,595,549 (GRCm39) I701V probably benign Het
Vmn2r13 A C 5: 109,339,943 (GRCm39) F11V probably benign Het
Vmn2r85 G C 10: 130,261,443 (GRCm39) S298* probably null Het
Wdr6 C G 9: 108,452,554 (GRCm39) W443S probably damaging Het
Wipi1 A G 11: 109,474,016 (GRCm39) V210A probably damaging Het
Zfp317 A G 9: 19,556,532 (GRCm39) T47A probably benign Het
Zfp61 T C 7: 23,991,714 (GRCm39) T146A probably benign Het
Zfp964 A G 8: 70,116,567 (GRCm39) E389G unknown Het
Zfyve16 T C 13: 92,640,985 (GRCm39) D1253G probably damaging Het
Zpld2 T C 4: 133,929,669 (GRCm39) K212R possibly damaging Het
Zswim7 G A 11: 62,158,299 (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
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
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'- TGTCACAACCAGTTAGTGAAAGG -3'
(R):5'- TGACCTAAGGAGTTACTGCAC -3'

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