Incidental Mutation 'R4028:Adam12'
ID 313092
Institutional Source Beutler Lab
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Name ADAM metallopeptidase domain 12
Synonyms Mltna, ADAM12
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.386) question?
Stock # R4028 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 133484928-133826826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133531725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 503 (N503K)
Ref Sequence ENSEMBL: ENSMUSP00000065213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680] [ENSMUST00000138363]
AlphaFold Q61824
Predicted Effect probably damaging
Transcript: ENSMUST00000067680
AA Change: N503K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: N503K

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 165 1.1e-27 PFAM
Pfam:Reprolysin_5 210 392 2.1e-24 PFAM
Pfam:Reprolysin_4 210 408 3.8e-16 PFAM
Pfam:Reprolysin 212 414 1.4e-74 PFAM
Pfam:Reprolysin_2 232 404 6e-18 PFAM
Pfam:Reprolysin_3 236 359 1.3e-16 PFAM
DISIN 431 506 4.29e-42 SMART
ACR 507 650 1.75e-67 SMART
transmembrane domain 705 727 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138363
AA Change: N181K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555
AA Change: N181K

DomainStartEndE-ValueType
Pfam:Reprolysin 4 92 4.5e-24 PFAM
Pfam:Reprolysin_2 6 82 2.1e-11 PFAM
Pfam:Reprolysin_5 9 70 2.8e-11 PFAM
Pfam:Reprolysin_4 11 87 8.9e-8 PFAM
DISIN 109 184 4.29e-42 SMART
ACR 185 328 1.75e-67 SMART
transmembrane domain 383 405 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
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, functional protein that localizes to the cell surface. About a third of the mice lacking the encoded protein die before weaning. Overexpression of the encoded protein in a mouse model of Duchenne muscular dystrophy alleviates the muscle pathology by preventing cell necrosis and inflammation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 T A 2: 25,167,750 (GRCm39) I439N probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Birc2 T C 9: 7,819,352 (GRCm39) N520S probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Clec1b G A 6: 129,378,774 (GRCm39) R87H probably benign Het
Cox7a2l A G 17: 83,810,069 (GRCm39) I123T probably benign Het
Cyp2j5 A T 4: 96,529,653 (GRCm39) Y239* probably null Het
Dnajc6 G A 4: 101,474,054 (GRCm39) C485Y probably damaging Het
Dync1i1 C T 6: 5,961,842 (GRCm39) S341F probably damaging Het
Fbln1 A G 15: 85,111,317 (GRCm39) N157S probably benign Het
Get1 T C 16: 95,946,784 (GRCm39) probably null Het
Gpatch2 A G 1: 186,958,337 (GRCm39) S231G possibly damaging Het
Grin2b T C 6: 135,713,433 (GRCm39) D816G probably damaging Het
Kndc1 T A 7: 139,509,941 (GRCm39) F1261Y probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Ntrk3 T C 7: 77,842,458 (GRCm39) E790G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4c3 T C 2: 89,851,567 (GRCm39) N281S probably damaging Het
Or52k2 A T 7: 102,254,500 (GRCm39) D313V possibly damaging Het
Pibf1 A G 14: 99,416,777 (GRCm39) E450G probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pkdrej A T 15: 85,701,693 (GRCm39) N1414K probably benign Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slc28a3 T C 13: 58,758,570 (GRCm39) S18G probably benign Het
Slc7a1 C A 5: 148,282,622 (GRCm39) C75F probably benign Het
Snrnp200 A G 2: 127,079,486 (GRCm39) D1865G probably damaging Het
Tnrc6a T A 7: 122,769,344 (GRCm39) I378N probably damaging Het
Trim3 A G 7: 105,267,452 (GRCm39) V309A probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Zdhhc11 T C 13: 74,125,390 (GRCm39) L210P probably damaging Het
Other mutations in Adam12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Adam12 APN 7 133,511,610 (GRCm39) missense possibly damaging 0.51
IGL01403:Adam12 APN 7 133,521,339 (GRCm39) missense probably benign 0.00
IGL01482:Adam12 APN 7 133,569,577 (GRCm39) missense probably damaging 1.00
IGL01922:Adam12 APN 7 133,539,201 (GRCm39) nonsense probably null
IGL02397:Adam12 APN 7 133,511,548 (GRCm39) splice site probably benign
IGL03401:Adam12 APN 7 133,518,192 (GRCm39) missense probably damaging 1.00
R0122:Adam12 UTSW 7 133,614,077 (GRCm39) missense probably benign 0.45
R0200:Adam12 UTSW 7 133,576,145 (GRCm39) splice site probably null
R0463:Adam12 UTSW 7 133,576,145 (GRCm39) splice site probably null
R0927:Adam12 UTSW 7 133,599,959 (GRCm39) missense probably damaging 1.00
R1258:Adam12 UTSW 7 133,539,176 (GRCm39) missense probably damaging 1.00
R1440:Adam12 UTSW 7 133,533,543 (GRCm39) missense probably benign 0.03
R1483:Adam12 UTSW 7 133,531,754 (GRCm39) missense probably benign 0.41
R1692:Adam12 UTSW 7 133,489,673 (GRCm39) makesense probably null
R1797:Adam12 UTSW 7 133,569,590 (GRCm39) missense probably benign 0.03
R2134:Adam12 UTSW 7 133,614,017 (GRCm39) nonsense probably null
R2230:Adam12 UTSW 7 133,521,347 (GRCm39) missense probably damaging 1.00
R2350:Adam12 UTSW 7 133,521,253 (GRCm39) missense probably damaging 1.00
R2944:Adam12 UTSW 7 133,577,236 (GRCm39) missense probably null 0.02
R3688:Adam12 UTSW 7 133,566,525 (GRCm39) nonsense probably null
R3747:Adam12 UTSW 7 133,774,594 (GRCm39) missense probably damaging 0.96
R3749:Adam12 UTSW 7 133,774,594 (GRCm39) missense probably damaging 0.96
R3750:Adam12 UTSW 7 133,774,594 (GRCm39) missense probably damaging 0.96
R4130:Adam12 UTSW 7 133,514,653 (GRCm39) missense probably damaging 1.00
R4131:Adam12 UTSW 7 133,514,653 (GRCm39) missense probably damaging 1.00
R4346:Adam12 UTSW 7 133,583,264 (GRCm39) missense possibly damaging 0.82
R4701:Adam12 UTSW 7 133,518,191 (GRCm39) missense possibly damaging 0.64
R4887:Adam12 UTSW 7 133,774,550 (GRCm39) missense possibly damaging 0.74
R5355:Adam12 UTSW 7 133,489,671 (GRCm39) makesense probably null
R5468:Adam12 UTSW 7 133,577,202 (GRCm39) missense probably damaging 1.00
R5486:Adam12 UTSW 7 133,509,401 (GRCm39) missense possibly damaging 0.75
R5990:Adam12 UTSW 7 133,533,465 (GRCm39) missense probably damaging 1.00
R6504:Adam12 UTSW 7 133,531,713 (GRCm39) missense probably damaging 1.00
R6783:Adam12 UTSW 7 133,576,126 (GRCm39) missense probably damaging 1.00
R7117:Adam12 UTSW 7 133,518,191 (GRCm39) missense probably benign 0.00
R7263:Adam12 UTSW 7 133,521,240 (GRCm39) missense possibly damaging 0.68
R7749:Adam12 UTSW 7 133,826,542 (GRCm39) missense unknown
R7820:Adam12 UTSW 7 133,599,917 (GRCm39) missense probably benign 0.00
R7880:Adam12 UTSW 7 133,511,691 (GRCm39) missense possibly damaging 0.94
R7891:Adam12 UTSW 7 133,599,961 (GRCm39) missense probably benign 0.00
R8114:Adam12 UTSW 7 133,569,617 (GRCm39) missense probably damaging 1.00
R8160:Adam12 UTSW 7 133,569,770 (GRCm39) splice site probably null
R8683:Adam12 UTSW 7 133,491,929 (GRCm39) missense possibly damaging 0.49
R9236:Adam12 UTSW 7 133,614,022 (GRCm39) missense probably benign 0.03
R9277:Adam12 UTSW 7 133,521,561 (GRCm39) missense probably benign 0.00
R9480:Adam12 UTSW 7 133,736,470 (GRCm39) missense probably damaging 0.98
R9515:Adam12 UTSW 7 133,509,373 (GRCm39) missense probably benign 0.03
R9599:Adam12 UTSW 7 133,566,454 (GRCm39) missense probably damaging 0.99
X0057:Adam12 UTSW 7 133,614,044 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GACAGACTCGTGCGCATAAAG -3'
(R):5'- CATCAGAGGGGATGGCTTTG -3'

Sequencing Primer
(F):5'- GTGCGCATAAAGCATCCTTC -3'
(R):5'- GGATGGCTTTGAAATCCCCAC -3'
Posted On 2015-04-30