Incidental Mutation 'R3784:Adam11'
ID 272181
Institutional Source Beutler Lab
Gene Symbol Adam11
Ensembl Gene ENSMUSG00000020926
Gene Name a disintegrin and metallopeptidase domain 11
Synonyms Mdc
MMRRC Submission 040876-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3784 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102652265-102671088 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 102665193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068150] [ENSMUST00000103081]
AlphaFold Q9R1V4
Predicted Effect probably null
Transcript: ENSMUST00000068150
SMART Domains Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 50 193 5.7e-29 PFAM
Pfam:Reprolysin_5 241 390 2.1e-9 PFAM
Pfam:Reprolysin 243 442 1.1e-68 PFAM
Pfam:Reprolysin_3 267 378 1.3e-9 PFAM
DISIN 457 533 3.91e-36 SMART
ACR 534 673 2.76e-56 SMART
EGF 680 714 2.32e-1 SMART
transmembrane domain 740 762 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000103081
SMART Domains Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 49 193 1.1e-28 PFAM
Pfam:Reprolysin_5 241 390 2.3e-9 PFAM
Pfam:Reprolysin 243 442 5.3e-62 PFAM
Pfam:Reprolysin_3 267 385 4.5e-9 PFAM
DISIN 457 533 3.91e-36 SMART
ACR 534 673 2.76e-56 SMART
EGF 680 714 2.32e-1 SMART
transmembrane domain 740 762 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141563
Meta Mutation Damage Score 0.9505 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (44/44)
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. The protein encoded by this gene is believed to lack metalloproteinase activity due to the lack of a critical catalytic motif. Mice lacking the encoded protein exhibit defects in spatial learning, motor coordination and altered perception of pain. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
3110082I17Rik G T 5: 139,441,197 (GRCm39) P35Q probably damaging Het
Ank2 A G 3: 126,746,842 (GRCm39) L581P probably damaging Het
Armc2 T C 10: 41,798,190 (GRCm39) I779V probably benign Het
Atp8a2 A T 14: 60,011,415 (GRCm39) Y965N probably damaging Het
C3 A G 17: 57,533,067 (GRCm39) V146A probably damaging Het
Cfap206 A T 4: 34,716,445 (GRCm39) I340N probably damaging Het
Col3a1 A G 1: 45,386,295 (GRCm39) D145G probably damaging Het
Drosha A G 15: 12,890,615 (GRCm39) D954G possibly damaging Het
Fam161b A T 12: 84,408,464 (GRCm39) probably null Het
Fat2 C T 11: 55,147,012 (GRCm39) A3995T probably benign Het
Foxg1 A G 12: 49,432,382 (GRCm39) T372A probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Hook1 T C 4: 95,877,888 (GRCm39) F55L probably damaging Het
Iars2 T C 1: 185,019,328 (GRCm39) K986R probably benign Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Klra8 T A 6: 130,102,018 (GRCm39) D139V probably benign Het
Mical3 T C 6: 120,998,298 (GRCm39) Y20C probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Ncoa6 G A 2: 155,249,677 (GRCm39) T1209I probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Olfml2b A G 1: 170,509,551 (GRCm39) D633G probably damaging Het
Plekhg3 T C 12: 76,607,294 (GRCm39) probably null Het
Plxna2 T A 1: 194,326,925 (GRCm39) D286E probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Prmt7 C A 8: 106,968,768 (GRCm39) Q361K probably benign Het
Prrc2c T C 1: 162,537,238 (GRCm39) probably benign Het
Psg27 T A 7: 18,294,279 (GRCm39) Q376L probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rad51b C T 12: 79,347,419 (GRCm39) Q28* probably null Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Senp6 T G 9: 79,999,568 (GRCm39) I74S probably benign Het
Spats2l A G 1: 57,924,938 (GRCm39) E112G probably damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Taf15 G A 11: 83,397,248 (GRCm39) D313N unknown Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tubb6 A G 18: 67,526,063 (GRCm39) T72A possibly damaging Het
Txndc16 A T 14: 45,403,343 (GRCm39) V32E probably damaging Het
Vmn1r200 A T 13: 22,580,025 (GRCm39) Y276F possibly damaging Het
Other mutations in Adam11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Adam11 APN 11 102,667,657 (GRCm39) missense probably benign 0.40
IGL00497:Adam11 APN 11 102,660,973 (GRCm39) missense probably damaging 1.00
IGL00570:Adam11 APN 11 102,667,176 (GRCm39) missense possibly damaging 0.76
IGL01875:Adam11 APN 11 102,663,682 (GRCm39) missense probably damaging 1.00
IGL01945:Adam11 APN 11 102,663,736 (GRCm39) missense probably damaging 0.99
IGL02266:Adam11 APN 11 102,663,493 (GRCm39) missense probably damaging 1.00
IGL02702:Adam11 APN 11 102,667,864 (GRCm39) missense probably benign 0.26
IGL03395:Adam11 APN 11 102,663,746 (GRCm39) missense probably damaging 1.00
G1citation:Adam11 UTSW 11 102,667,501 (GRCm39) missense possibly damaging 0.68
R0091:Adam11 UTSW 11 102,663,665 (GRCm39) missense probably damaging 1.00
R0135:Adam11 UTSW 11 102,667,399 (GRCm39) missense probably damaging 1.00
R1068:Adam11 UTSW 11 102,667,204 (GRCm39) missense probably damaging 1.00
R1529:Adam11 UTSW 11 102,665,939 (GRCm39) critical splice donor site probably null
R2197:Adam11 UTSW 11 102,660,750 (GRCm39) missense possibly damaging 0.94
R2357:Adam11 UTSW 11 102,665,334 (GRCm39) missense probably benign
R3082:Adam11 UTSW 11 102,660,943 (GRCm39) splice site probably benign
R5254:Adam11 UTSW 11 102,665,098 (GRCm39) nonsense probably null
R5367:Adam11 UTSW 11 102,664,479 (GRCm39) missense probably benign 0.00
R5444:Adam11 UTSW 11 102,663,674 (GRCm39) missense probably damaging 1.00
R5699:Adam11 UTSW 11 102,664,466 (GRCm39) missense probably benign 0.00
R5881:Adam11 UTSW 11 102,664,636 (GRCm39) missense probably benign 0.17
R6193:Adam11 UTSW 11 102,662,087 (GRCm39) missense probably benign
R6422:Adam11 UTSW 11 102,665,109 (GRCm39) missense possibly damaging 0.95
R6798:Adam11 UTSW 11 102,667,834 (GRCm39) missense probably damaging 1.00
R6822:Adam11 UTSW 11 102,667,501 (GRCm39) missense possibly damaging 0.68
R7173:Adam11 UTSW 11 102,662,757 (GRCm39) missense possibly damaging 0.93
R7207:Adam11 UTSW 11 102,662,883 (GRCm39) missense probably benign 0.03
R7719:Adam11 UTSW 11 102,663,303 (GRCm39) missense probably benign 0.01
R8341:Adam11 UTSW 11 102,667,362 (GRCm39) missense probably damaging 1.00
R8951:Adam11 UTSW 11 102,665,193 (GRCm39) critical splice donor site probably null
R9309:Adam11 UTSW 11 102,663,710 (GRCm39) missense probably damaging 1.00
R9457:Adam11 UTSW 11 102,660,724 (GRCm39) missense probably benign 0.22
R9747:Adam11 UTSW 11 102,663,495 (GRCm39) missense probably damaging 1.00
R9786:Adam11 UTSW 11 102,653,090 (GRCm39) missense probably benign 0.00
X0023:Adam11 UTSW 11 102,665,456 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATTGTCGTGCAACCTCAGGG -3'
(R):5'- CGTGCGTCAAGGTGCATTTT -3'

Sequencing Primer
(F):5'- AACCTCAGGGCAGTCCTTC -3'
(R):5'- TCGGCTGCACTCCTGAG -3'
Posted On 2015-03-25