Incidental Mutation 'R4903:Adam5'
ID 377950
Institutional Source Beutler Lab
Gene Symbol Adam5
Ensembl Gene ENSMUSG00000031554
Gene Name a disintegrin and metallopeptidase domain 5
Synonyms tMDCII
MMRRC Submission 042506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4903 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 25217109-25314385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25276248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 473 (Y473C)
Ref Sequence ENSEMBL: ENSMUSP00000147290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]
AlphaFold Q3TTE0
Predicted Effect probably damaging
Transcript: ENSMUST00000050300
AA Change: Y473C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: Y473C

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: Y473C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: Y473C

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 noncoding transcript
Transcript: ENSMUST00000130939
Predicted Effect unknown
Transcript: ENSMUST00000132180
AA Change: Y390C
SMART Domains Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: Y390C

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: Y473C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abca9 A G 11: 110,037,827 (GRCm39) Y508H probably damaging Het
Abcc9 A T 6: 142,546,691 (GRCm39) L1347H probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Agbl2 A G 2: 90,627,817 (GRCm39) I207M possibly damaging Het
Akna C A 4: 63,292,274 (GRCm39) R1130S probably damaging Het
Alg12 A T 15: 88,698,743 (GRCm39) I194N probably damaging Het
Alk T A 17: 72,176,558 (GRCm39) H1582L probably damaging Het
Atn1 G C 6: 124,720,220 (GRCm39) probably benign Het
Carhsp1 T C 16: 8,478,864 (GRCm39) T130A probably damaging Het
Chrna3 T C 9: 54,922,810 (GRCm39) T333A probably benign Het
Ctsr T A 13: 61,310,945 (GRCm39) I34L probably benign Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Dars2 G C 1: 160,878,941 (GRCm39) P362R probably benign Het
Dnah10 A G 5: 124,894,812 (GRCm39) E3459G probably damaging Het
Dus2 G A 8: 106,771,437 (GRCm39) D188N probably benign Het
Ece2 C T 16: 20,449,972 (GRCm39) R189* probably null Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Egr2 T A 10: 67,374,163 (GRCm39) I51N probably damaging Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
G2e3 A G 12: 51,418,413 (GRCm39) I603V probably benign Het
Gm11564 A C 11: 99,705,858 (GRCm39) C191G unknown Het
Gpatch8 A G 11: 102,370,959 (GRCm39) S860P unknown Het
Gprin1 C G 13: 54,885,742 (GRCm39) W844S probably damaging Het
Hhipl2 T A 1: 183,207,698 (GRCm39) Y252* probably null Het
Hormad1 T A 3: 95,492,531 (GRCm39) probably null Het
Hrg A G 16: 22,779,901 (GRCm39) probably benign Het
Hsh2d C T 8: 72,947,372 (GRCm39) A23V probably benign Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Jak2 A G 19: 29,252,436 (GRCm39) S129G probably benign Het
Kif1a C T 1: 92,949,456 (GRCm39) E1579K probably damaging Het
Lhcgr A T 17: 89,049,789 (GRCm39) I579N probably damaging Het
Lrig3 A T 10: 125,832,482 (GRCm39) probably null Het
Man2c1 C A 9: 57,046,240 (GRCm39) Q465K probably benign Het
Map3k5 T A 10: 19,994,235 (GRCm39) L1043Q probably null Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mapk8ip3 A G 17: 25,120,183 (GRCm39) S946P probably benign Het
Mrpl50 T C 4: 49,514,488 (GRCm39) Y61C probably damaging Het
Myf5 A T 10: 107,321,733 (GRCm39) C20* probably null Het
Nek11 T C 9: 105,191,921 (GRCm39) K163R possibly damaging Het
Or1l4b A T 2: 37,036,383 (GRCm39) H53L probably benign Het
Or4c105 A T 2: 88,648,342 (GRCm39) I276L probably benign Het
Pcdhga9 C A 18: 37,872,058 (GRCm39) T629K probably damaging Het
Pglyrp1 A G 7: 18,624,128 (GRCm39) N137S probably benign Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pitpnm2 T A 5: 124,290,668 (GRCm39) Y6F probably damaging Het
Pkd1 T G 17: 24,790,976 (GRCm39) V1057G probably benign Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plekha5 T A 6: 140,532,093 (GRCm39) M586K probably damaging Het
Ppp4r4 T A 12: 103,557,030 (GRCm39) probably null Het
Rasal3 C T 17: 32,616,357 (GRCm39) C278Y probably damaging Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Sema3d A G 5: 12,613,125 (GRCm39) K401E probably benign Het
Sema7a T C 9: 57,862,378 (GRCm39) Y194H probably benign Het
Senp5 A T 16: 31,802,117 (GRCm39) Y585N probably damaging Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Shbg C T 11: 69,505,912 (GRCm39) S365N probably benign Het
Slc39a6 A T 18: 24,730,925 (GRCm39) S65T probably damaging Het
Stk3 T C 15: 34,959,212 (GRCm39) E320G probably damaging Het
Syk T A 13: 52,765,117 (GRCm39) H81Q probably damaging Het
Tet1 A G 10: 62,658,437 (GRCm39) W1470R probably damaging Het
Thada C A 17: 84,559,828 (GRCm39) V1450L possibly damaging Het
Tmem241 A G 18: 12,237,176 (GRCm39) S87P probably damaging Het
Trdv1 T A 14: 54,119,375 (GRCm39) probably benign Het
Trim40 T C 17: 37,194,117 (GRCm39) E192G possibly damaging Het
Trip11 A T 12: 101,853,065 (GRCm39) probably null Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Tshr A G 12: 91,367,962 (GRCm39) D35G probably benign Het
Tssc4 T C 7: 142,624,322 (GRCm39) V210A probably damaging Het
Ttk T A 9: 83,747,201 (GRCm39) I680N probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl4a T C 18: 80,250,493 (GRCm39) F30L probably damaging Het
Ubac2 G T 14: 122,231,650 (GRCm39) C192F probably benign Het
Vmn1r12 A G 6: 57,136,502 (GRCm39) T156A possibly damaging Het
Zfp747l1 T A 7: 126,984,578 (GRCm39) T175S 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
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
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'- TTAGCTGTTACGAGGTGACAC -3'
(R):5'- GATTCATCCTAAGGGAGGCC -3'

Sequencing Primer
(F):5'- ACGAGGTGACACATTTTTGTCC -3'
(R):5'- GAGCCTTTCCTTTTACAATGACAGGG -3'
Posted On 2016-04-15