Incidental Mutation 'R9000:Adam5'
ID 684915
Institutional Source Beutler Lab
Gene Symbol Adam5
Ensembl Gene ENSMUSG00000031554
Gene Name a disintegrin and metallopeptidase domain 5
Synonyms tMDCII
MMRRC Submission 068831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9000 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 25217109-25314385 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 25294372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000052661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]
AlphaFold Q3TTE0
Predicted Effect probably null
Transcript: ENSMUST00000050300
SMART Domains Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554

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 benign
Transcript: ENSMUST00000118419
SMART Domains Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554

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 probably benign
Transcript: ENSMUST00000132180
SMART Domains Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554

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 benign
Transcript: ENSMUST00000209935
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 90% (55/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,195 (GRCm39) N749S probably damaging Het
Acsl5 T C 19: 55,283,943 (GRCm39) *684Q probably null Het
Actr5 A T 2: 158,478,610 (GRCm39) T487S probably benign Het
Adam18 T A 8: 25,127,162 (GRCm39) H478L probably benign Het
Adamts3 T C 5: 89,854,570 (GRCm39) N475S probably benign Het
Akap9 G A 5: 4,105,650 (GRCm39) R2907H probably benign Het
Anapc1 A G 2: 128,476,628 (GRCm39) V1330A probably damaging Het
Arhgef37 A T 18: 61,637,333 (GRCm39) M443K possibly damaging Het
Atp13a1 T A 8: 70,254,725 (GRCm39) H753Q probably damaging Het
C2cd3 A G 7: 100,065,281 (GRCm39) H311R Het
Cdh23 A G 10: 60,140,277 (GRCm39) Y3222H possibly damaging Het
Ces2f A G 8: 105,677,661 (GRCm39) D222G probably benign Het
Cnot9 C T 1: 74,561,544 (GRCm39) R130C probably benign Het
Cntnap2 G A 6: 46,461,139 (GRCm39) probably benign Het
Daam2 A G 17: 49,769,197 (GRCm39) L932P probably damaging Het
Dgki T C 6: 37,074,643 (GRCm39) probably benign Het
Dync1h1 A C 12: 110,606,397 (GRCm39) Q2489P probably benign Het
Elovl2 A G 13: 41,338,810 (GRCm39) L280S probably benign Het
Fat1 C A 8: 45,497,587 (GRCm39) Y4357* probably null Het
Fat3 T A 9: 15,871,816 (GRCm39) Q3525L possibly damaging Het
Fat3 T C 9: 15,918,095 (GRCm39) I1443V probably benign Het
Fzd1 A G 5: 4,806,211 (GRCm39) I457T probably damaging Het
Kcnq5 G T 1: 21,557,483 (GRCm39) F332L probably damaging Het
Meiob A G 17: 25,047,916 (GRCm39) probably benign Het
Mrgprb4 A G 7: 47,848,769 (GRCm39) L53P probably damaging Het
Myt1l G A 12: 29,901,740 (GRCm39) V832I unknown Het
Nckap5l G A 15: 99,321,310 (GRCm39) P1186S probably damaging Het
Ndufa4l2 A T 10: 127,350,898 (GRCm39) R16S probably benign Het
Nrg2 T C 18: 36,151,682 (GRCm39) Y620C probably damaging Het
Or4p4b-ps1 T A 2: 88,454,525 (GRCm39) *293R probably null Het
Or52a24 T C 7: 103,381,672 (GRCm39) S180P probably damaging Het
Pip4k2a T G 2: 18,877,240 (GRCm39) Y165S possibly damaging Het
Plcd4 T A 1: 74,601,024 (GRCm39) C500* probably null Het
Plcl1 C T 1: 55,736,990 (GRCm39) P777L probably damaging Het
Pnliprp2 T C 19: 58,762,555 (GRCm39) Y387H probably benign Het
Prdm15 A T 16: 97,595,470 (GRCm39) D1119E probably benign Het
Prss51 T C 14: 64,332,420 (GRCm39) S36P possibly damaging Het
Prune1 A G 3: 95,162,635 (GRCm39) V346A probably benign Het
Saxo5 T C 8: 3,526,083 (GRCm39) S79P possibly damaging Het
Scn5a T C 9: 119,321,171 (GRCm39) T1464A possibly damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGGG GGGGCCCAGCTCAGCCACAGGG 7: 126,066,743 (GRCm39) probably benign Het
Sim1 T G 10: 50,860,316 (GRCm39) I726S probably benign Het
Sim1 T G 10: 50,860,317 (GRCm39) I726M possibly damaging Het
Slc38a4 G A 15: 96,897,475 (GRCm39) P447S possibly damaging Het
Slc5a12 A G 2: 110,454,525 (GRCm39) E362G probably damaging Het
Slc5a8 C A 10: 88,762,089 (GRCm39) N576K probably benign Het
Slc5a8 T A 10: 88,762,090 (GRCm39) Y577N probably benign Het
Snn A G 16: 10,890,322 (GRCm39) E47G probably damaging Het
Snx19 T C 9: 30,375,619 (GRCm39) V207A unknown Het
Srcap G A 7: 127,130,943 (GRCm39) V720I possibly damaging Het
Syn3 T A 10: 85,893,489 (GRCm39) R451S unknown Het
Tdrp A G 8: 14,003,989 (GRCm39) V116A probably benign Het
Tef G A 15: 81,695,773 (GRCm39) M1I probably null Het
Vmn1r232 T C 17: 21,134,111 (GRCm39) K163R probably damaging Het
Wrnip1 A G 13: 32,986,711 (GRCm39) E164G probably damaging Het
Zcchc14 T G 8: 122,336,880 (GRCm39) H178P unknown Het
Zfp37 T G 4: 62,126,651 (GRCm39) K69T unknown Het
Zfp947 A G 17: 22,365,161 (GRCm39) L171P probably benign 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
R7127:Adam5 UTSW 8 25,300,797 (GRCm39) missense probably damaging 1.00
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
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'- AGAAGCTCTGTGTCTCTCGC -3'
(R):5'- AGCAGCTTTGATCATGTACACATTG -3'

Sequencing Primer
(F):5'- CGCCTGTTCCAGAAGCTGTTAG -3'
(R):5'- CTAGATATTCTGGGGGTGTGAAGGAC -3'
Posted On 2021-10-11