Incidental Mutation 'R7127:Adam5'
ID 552396
Institutional Source Beutler Lab
Gene Symbol Adam5
Ensembl Gene ENSMUSG00000031554
Gene Name a disintegrin and metallopeptidase domain 5
Synonyms tMDCII
MMRRC Submission 045246-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7127 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 25217109-25314385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25300797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 244 (I244N)
Ref Sequence ENSEMBL: ENSMUSP00000052661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]
AlphaFold Q3TTE0
Predicted Effect probably damaging
Transcript: ENSMUST00000050300
AA Change: I244N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: I244N

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Pep_M12B_propep 16 142 1.6e-19 PFAM
Pfam:Reprolysin 185 378 7.7e-59 PFAM
DISIN 397 474 9.1e-42 SMART
ACR 475 618 6.9e-58 SMART
transmembrane domain 695 712 N/A INTRINSIC
low complexity region 718 751 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118419
AA Change: I244N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: I244N

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Pep_M12B_propep 16 142 4.7e-30 PFAM
Pfam:Reprolysin 185 378 7.9e-56 PFAM
DISIN 397 474 1.78e-39 SMART
ACR 475 618 2.06e-55 SMART
transmembrane domain 695 712 N/A INTRINSIC
low complexity region 718 750 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: I161N

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 1 60 6.7e-14 PFAM
Pfam:Reprolysin 103 296 2.5e-61 PFAM
DISIN 315 392 1.78e-39 SMART
ACR 393 536 2.06e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209935
AA Change: I244N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,931,825 (GRCm39) T26I probably benign Het
Adam7 A G 14: 68,752,218 (GRCm39) probably null Het
Aox4 T A 1: 58,268,033 (GRCm39) N204K probably benign Het
Arl13b C T 16: 62,622,102 (GRCm39) G397D probably damaging Het
AU041133 T C 10: 81,986,700 (GRCm39) F118L probably benign Het
Brinp1 C T 4: 68,711,260 (GRCm39) R316H probably benign Het
Cabcoco1 C T 10: 68,272,160 (GRCm39) V268I probably benign Het
Car15 T C 16: 17,656,060 (GRCm39) probably benign Het
Ccdc185 G T 1: 182,576,421 (GRCm39) D89E possibly damaging Het
Cckar T A 5: 53,863,817 (GRCm39) Y48F probably damaging Het
Cdyl T A 13: 36,040,651 (GRCm39) S282T probably benign Het
Clca3a1 T C 3: 144,711,806 (GRCm39) T730A probably damaging Het
Cracr2b T C 7: 141,045,695 (GRCm39) S318P possibly damaging Het
Depdc1b T C 13: 108,460,462 (GRCm39) F24S probably damaging Het
Duox2 C T 2: 122,122,430 (GRCm39) G565D probably benign Het
Ehbp1 A T 11: 22,003,529 (GRCm39) Y1073* probably null Het
Epg5 A T 18: 78,072,140 (GRCm39) N2384I probably damaging Het
Fam171b A G 2: 83,710,110 (GRCm39) D594G probably benign Het
Flad1 A G 3: 89,310,725 (GRCm39) Y441H probably damaging Het
Fn1 T C 1: 71,636,703 (GRCm39) T2150A probably benign Het
Fnta C A 8: 26,497,231 (GRCm39) R206L probably damaging Het
Gadd45b A T 10: 80,766,999 (GRCm39) M95L probably benign Het
Gbp8 A T 5: 105,165,578 (GRCm39) H358Q probably benign Het
Glipr1l3 C A 10: 111,983,995 (GRCm39) G157V probably damaging Het
Hoxc13 T C 15: 102,829,903 (GRCm39) I94T possibly damaging Het
Hunk A G 16: 90,272,779 (GRCm39) D361G probably damaging Het
Igkv3-4 T A 6: 70,649,155 (GRCm39) Y51* probably null Het
Kif26a C T 12: 112,144,579 (GRCm39) P1611L probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lrrc8d T C 5: 105,960,829 (GRCm39) V413A probably damaging Het
Med6 C T 12: 81,635,774 (GRCm39) R86Q probably damaging Het
Myrf A T 19: 10,192,705 (GRCm39) S605T probably benign Het
Or6c66b T A 10: 129,376,936 (GRCm39) C177S probably damaging Het
Plk3 A T 4: 116,987,767 (GRCm39) V429E probably benign Het
Plrg1 C T 3: 82,967,222 (GRCm39) P131L probably damaging Het
Plscr4 C T 9: 92,372,831 (GRCm39) R318* probably null Het
Rab34 A T 11: 78,082,056 (GRCm39) K152* probably null Het
Rasef A T 4: 73,662,369 (GRCm39) S194T probably damaging Het
Rcc1 A G 4: 132,062,107 (GRCm39) S269P probably damaging Het
Resf1 T C 6: 149,229,443 (GRCm39) F830L possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scin A G 12: 40,155,071 (GRCm39) I174T possibly damaging Het
Serpinb8 A G 1: 107,525,200 (GRCm39) M1V probably null Het
Smok3c A T 5: 138,062,971 (GRCm39) I153F probably damaging Het
Spen G A 4: 141,203,419 (GRCm39) S1736L possibly damaging Het
Sspo T A 6: 48,426,446 (GRCm39) M155K probably benign Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sun2 T C 15: 79,612,100 (GRCm39) I528M probably benign Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Taok2 G T 7: 126,466,326 (GRCm39) A831E possibly damaging Het
Tas2r126 T C 6: 42,411,739 (GRCm39) F91L probably damaging Het
Tas2r140 A G 6: 133,031,922 (GRCm39) S279P possibly damaging Het
Tiam1 A T 16: 89,657,148 (GRCm39) L696H probably damaging Het
Trank1 T G 9: 111,194,864 (GRCm39) S963A possibly damaging Het
Trf A G 9: 103,102,326 (GRCm39) V184A probably benign Het
Ttll13 T A 7: 79,903,406 (GRCm39) M231K possibly damaging Het
Tuba1a T G 15: 98,849,455 (GRCm39) T41P probably benign Het
Zfhx4 A G 3: 5,478,104 (GRCm39) Q3573R probably damaging Het
Zfp141 G A 7: 42,124,853 (GRCm39) H540Y probably damaging Het
Other mutations in Adam5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Adam5 APN 8 25,308,758 (GRCm39) missense probably benign 0.18
IGL01285:Adam5 APN 8 25,271,610 (GRCm39) missense probably benign 0.02
IGL01310:Adam5 APN 8 25,232,150 (GRCm39) intron probably benign
IGL01510:Adam5 APN 8 25,294,481 (GRCm39) missense probably damaging 1.00
IGL01570:Adam5 APN 8 25,300,839 (GRCm39) missense probably damaging 1.00
IGL02017:Adam5 APN 8 25,271,775 (GRCm39) missense probably benign 0.38
IGL02191:Adam5 APN 8 25,302,439 (GRCm39) nonsense probably null
IGL02397:Adam5 APN 8 25,234,149 (GRCm39) intron probably benign
IGL02488:Adam5 APN 8 25,282,022 (GRCm39) missense probably damaging 0.98
IGL02490:Adam5 APN 8 25,271,720 (GRCm39) nonsense probably null
IGL02499:Adam5 APN 8 25,271,581 (GRCm39) critical splice donor site probably null
IGL02539:Adam5 APN 8 25,276,229 (GRCm39) nonsense probably null
IGL02590:Adam5 APN 8 25,234,151 (GRCm39) intron probably benign
IGL02677:Adam5 APN 8 25,302,395 (GRCm39) splice site probably benign
IGL02679:Adam5 APN 8 25,296,542 (GRCm39) missense probably damaging 1.00
IGL02982:Adam5 APN 8 25,294,447 (GRCm39) missense probably benign 0.02
IGL03146:Adam5 APN 8 25,294,519 (GRCm39) missense probably damaging 0.98
IGL03162:Adam5 APN 8 25,271,620 (GRCm39) missense probably benign 0.30
IGL03284:Adam5 APN 8 25,276,354 (GRCm39) splice site probably benign
R0081:Adam5 UTSW 8 25,271,703 (GRCm39) missense probably damaging 1.00
R0377:Adam5 UTSW 8 25,237,557 (GRCm39) missense probably benign 0.08
R0398:Adam5 UTSW 8 25,303,448 (GRCm39) missense probably benign 0.17
R0771:Adam5 UTSW 8 25,276,315 (GRCm39) missense probably benign 0.04
R0925:Adam5 UTSW 8 25,302,441 (GRCm39) missense probably benign 0.09
R1547:Adam5 UTSW 8 25,300,729 (GRCm39) missense probably benign 0.10
R1985:Adam5 UTSW 8 25,236,755 (GRCm39) missense probably benign 0.01
R2115:Adam5 UTSW 8 25,234,161 (GRCm39) intron probably benign
R2125:Adam5 UTSW 8 25,305,134 (GRCm39) missense probably damaging 1.00
R2144:Adam5 UTSW 8 25,305,496 (GRCm39) missense probably benign 0.14
R3151:Adam5 UTSW 8 25,271,647 (GRCm39) missense probably damaging 0.99
R3612:Adam5 UTSW 8 25,308,105 (GRCm39) splice site probably benign
R3844:Adam5 UTSW 8 25,303,426 (GRCm39) missense probably benign 0.12
R3873:Adam5 UTSW 8 25,305,125 (GRCm39) missense probably benign 0.02
R4514:Adam5 UTSW 8 25,308,152 (GRCm39) missense probably damaging 1.00
R4843:Adam5 UTSW 8 25,303,552 (GRCm39) missense probably damaging 1.00
R4866:Adam5 UTSW 8 25,232,172 (GRCm39) splice site probably null
R4866:Adam5 UTSW 8 25,271,619 (GRCm39) missense probably damaging 0.98
R4900:Adam5 UTSW 8 25,271,619 (GRCm39) missense probably damaging 0.98
R4900:Adam5 UTSW 8 25,232,172 (GRCm39) splice site probably null
R4903:Adam5 UTSW 8 25,276,248 (GRCm39) missense probably damaging 1.00
R4936:Adam5 UTSW 8 25,276,287 (GRCm39) missense probably damaging 1.00
R4964:Adam5 UTSW 8 25,276,248 (GRCm39) missense probably damaging 1.00
R5259:Adam5 UTSW 8 25,300,850 (GRCm39) missense possibly damaging 0.90
R5293:Adam5 UTSW 8 25,300,722 (GRCm39) missense possibly damaging 0.46
R5724:Adam5 UTSW 8 25,294,511 (GRCm39) nonsense probably null
R5859:Adam5 UTSW 8 25,303,477 (GRCm39) missense probably benign
R6004:Adam5 UTSW 8 25,271,685 (GRCm39) missense probably benign 0.04
R6175:Adam5 UTSW 8 25,276,167 (GRCm39) missense probably benign 0.00
R6539:Adam5 UTSW 8 25,272,616 (GRCm39) missense possibly damaging 0.85
R6994:Adam5 UTSW 8 25,276,262 (GRCm39) nonsense probably null
R6996:Adam5 UTSW 8 25,296,517 (GRCm39) missense probably damaging 1.00
R7009:Adam5 UTSW 8 25,296,454 (GRCm39) missense probably benign 0.00
R7115:Adam5 UTSW 8 25,271,712 (GRCm39) missense possibly damaging 0.69
R7469:Adam5 UTSW 8 25,305,541 (GRCm39) missense probably benign 0.45
R7780:Adam5 UTSW 8 25,294,432 (GRCm39) missense possibly damaging 0.49
R8027:Adam5 UTSW 8 25,272,574 (GRCm39) missense probably damaging 1.00
R8069:Adam5 UTSW 8 25,303,541 (GRCm39) missense probably damaging 1.00
R8138:Adam5 UTSW 8 25,271,778 (GRCm39) missense probably damaging 1.00
R8305:Adam5 UTSW 8 25,300,719 (GRCm39) missense possibly damaging 0.93
R8359:Adam5 UTSW 8 25,296,502 (GRCm39) missense probably damaging 1.00
R8480:Adam5 UTSW 8 25,294,475 (GRCm39) nonsense probably null
R8743:Adam5 UTSW 8 25,276,264 (GRCm39) missense probably damaging 1.00
R9000:Adam5 UTSW 8 25,294,372 (GRCm39) critical splice donor site probably null
R9442:Adam5 UTSW 8 25,296,510 (GRCm39) missense probably damaging 0.96
R9474:Adam5 UTSW 8 25,237,540 (GRCm39) missense possibly damaging 0.95
R9602:Adam5 UTSW 8 25,303,402 (GRCm39) missense probably damaging 0.96
R9748:Adam5 UTSW 8 25,301,068 (GRCm39) missense probably benign 0.23
X0019:Adam5 UTSW 8 25,302,459 (GRCm39) missense probably benign 0.00
X0022:Adam5 UTSW 8 25,303,579 (GRCm39) critical splice acceptor site probably null
X0027:Adam5 UTSW 8 25,308,788 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGTTGGATTCATTCTCATAGACTTC -3'
(R):5'- GTGCTATATTTTGCTAAGCTCCTGAAG -3'

Sequencing Primer
(F):5'- TTCAGCGTTAGTAGGTGC -3'
(R):5'- GCCTCTTTGTAACCTGAAATAACC -3'
Posted On 2019-05-15