Incidental Mutation 'R1401:Adam33'
ID 160094
Institutional Source Beutler Lab
Gene Symbol Adam33
Ensembl Gene ENSMUSG00000027318
Gene Name a disintegrin and metallopeptidase domain 33
Synonyms
MMRRC Submission 039463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1401 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130892739-130905734 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 130893391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000052104] [ENSMUST00000110232] [ENSMUST00000183552]
AlphaFold Q923W9
Predicted Effect probably benign
Transcript: ENSMUST00000052104
SMART Domains Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 38 168 1.9e-28 PFAM
Pfam:Reprolysin_5 209 390 6.9e-21 PFAM
Pfam:Reprolysin_4 209 401 3.5e-9 PFAM
Pfam:Reprolysin 211 410 1.9e-60 PFAM
Pfam:Reprolysin_2 232 400 3e-14 PFAM
Pfam:Reprolysin_3 235 357 1.2e-16 PFAM
DISIN 427 502 8.4e-42 SMART
ACR 503 647 6.8e-51 SMART
transmembrane domain 677 699 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110232
SMART Domains Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Pep_M12B_propep 36 168 1.3e-24 PFAM
Pfam:Reprolysin_5 209 390 8.5e-23 PFAM
Pfam:Reprolysin_4 209 401 4.2e-11 PFAM
Pfam:Reprolysin 211 410 4e-63 PFAM
Pfam:Reprolysin_2 231 400 7.3e-17 PFAM
Pfam:Reprolysin_3 235 357 2.2e-20 PFAM
DISIN 427 502 1.66e-39 SMART
ACR 503 646 7.59e-54 SMART
EGF 653 682 1.53e-1 SMART
transmembrane domain 703 725 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132436
Predicted Effect probably benign
Transcript: ENSMUST00000135149
SMART Domains Protein: ENSMUSP00000122608
Gene: ENSMUSG00000027318

DomainStartEndE-ValueType
Pfam:Reprolysin_5 68 249 1.8e-23 PFAM
Pfam:Reprolysin_4 68 260 8.6e-12 PFAM
Pfam:Reprolysin 70 269 8.3e-64 PFAM
Pfam:Reprolysin_2 90 259 1.5e-17 PFAM
Pfam:Reprolysin_3 94 216 5.1e-21 PFAM
DISIN 286 361 1.66e-39 SMART
ACR 362 505 8.02e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183552
SMART Domains Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Pep_M12B_propep 38 168 2.4e-30 PFAM
Pfam:Reprolysin_5 209 390 8.2e-23 PFAM
Pfam:Reprolysin_4 209 401 4.2e-11 PFAM
Pfam:Reprolysin 211 410 2.4e-62 PFAM
Pfam:Reprolysin_2 232 400 2.8e-16 PFAM
Pfam:Reprolysin_3 235 357 1.5e-18 PFAM
DISIN 427 502 1.66e-39 SMART
ACR 503 646 7.59e-54 SMART
EGF 653 682 1.53e-1 SMART
transmembrane domain 703 725 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149625
Predicted Effect probably benign
Transcript: ENSMUST00000184921
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 98% (87/89)
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. This gene is widely expressed, most highly in the adult brain, heart, kidney, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a targeted gene deletion are viable, fertile, developmentally normal and display normal allergen-induced airway hyperreactivity, IgE production, mucus metaplasia, and airway inflammation in an OVA-induced model of allergic asthma. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(4)

Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abcg1 T A 17: 31,333,132 (GRCm39) I625N possibly damaging Het
Adgrl2 A T 3: 148,528,617 (GRCm39) I1185N probably damaging Het
Afp A T 5: 90,649,486 (GRCm39) probably benign Het
Aggf1 A G 13: 95,501,356 (GRCm39) V342A probably benign Het
Ankrd11 A T 8: 123,619,789 (GRCm39) S1333R probably benign Het
Arhgef11 C A 3: 87,640,776 (GRCm39) S1311* probably null Het
Atp6v1g1 T C 4: 63,466,878 (GRCm39) Y47H probably benign Het
Atp8b4 T C 2: 126,165,013 (GRCm39) probably null Het
Barx2 A G 9: 31,770,327 (GRCm39) L67P probably damaging Het
Bbs7 G A 3: 36,627,706 (GRCm39) P694S probably benign Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
C2 T C 17: 35,091,457 (GRCm39) T69A possibly damaging Het
C8b T G 4: 104,641,679 (GRCm39) L205R possibly damaging Het
Cct4 T G 11: 22,944,333 (GRCm39) N72K probably damaging Het
Cd300lg C A 11: 101,944,981 (GRCm39) P353H possibly damaging Het
Cdh20 A T 1: 104,875,222 (GRCm39) I335L possibly damaging Het
Cfhr2 T A 1: 139,738,757 (GRCm39) H268L probably benign Het
Chia1 T A 3: 106,036,255 (GRCm39) D278E probably benign Het
Cntn6 A G 6: 104,781,359 (GRCm39) T482A possibly damaging Het
Cst13 T A 2: 148,665,016 (GRCm39) F4I probably benign Het
Ctsc T A 7: 87,930,706 (GRCm39) V95E probably damaging Het
Ddhd1 A T 14: 45,842,508 (GRCm39) probably null Het
Dmxl2 A T 9: 54,322,712 (GRCm39) probably null Het
Dnah5 A C 15: 28,402,059 (GRCm39) T3407P probably damaging Het
Dock1 T A 7: 134,735,665 (GRCm39) Y1344* probably null Het
Eif4g3 T C 4: 137,933,395 (GRCm39) V1740A probably damaging Het
Epb41l5 A G 1: 119,506,634 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Gm10033 T C 8: 69,826,022 (GRCm39) noncoding transcript Het
Gm12790 A G 4: 101,825,396 (GRCm39) L6P probably benign Het
Gramd4 A G 15: 86,009,397 (GRCm39) D210G probably damaging Het
Hectd3 T C 4: 116,859,466 (GRCm39) S697P possibly damaging Het
Hsf4 T C 8: 106,002,235 (GRCm39) V399A probably benign Het
Hyal6 T A 6: 24,743,434 (GRCm39) C377S probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Mypn A G 10: 62,988,636 (GRCm39) V463A probably damaging Het
Nav1 T A 1: 135,388,163 (GRCm39) I1144L probably benign Het
Nckap5 A G 1: 125,942,398 (GRCm39) probably benign Het
Nipbl A T 15: 8,401,657 (GRCm39) S30T probably damaging Het
Nmt1 T C 11: 102,948,307 (GRCm39) F277S probably damaging Het
Nploc4 A C 11: 120,274,115 (GRCm39) probably benign Het
Nup54 C A 5: 92,576,080 (GRCm39) R137I probably damaging Het
Or52n2b T C 7: 104,565,963 (GRCm39) Y180C probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pkd1l1 G T 11: 8,804,487 (GRCm39) Y1701* probably null Het
Plekhg6 T C 6: 125,340,072 (GRCm39) T763A probably damaging Het
Pmepa1 C T 2: 173,070,368 (GRCm39) probably null Het
Ppfia2 A G 10: 106,666,518 (GRCm39) E408G possibly damaging Het
Pramel13 G A 4: 144,121,658 (GRCm39) T122M probably benign Het
Prl8a2 G A 13: 27,537,979 (GRCm39) V218I possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Shisal2b A T 13: 105,000,113 (GRCm39) C37S probably damaging Het
Slc13a1 A T 6: 24,118,082 (GRCm39) probably null Het
Slc17a8 T A 10: 89,427,076 (GRCm39) T342S probably damaging Het
Slc30a9 A G 5: 67,510,005 (GRCm39) E519G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc39a5 G A 10: 128,233,610 (GRCm39) L296F probably damaging Het
Slco6b1 A C 1: 96,857,610 (GRCm39) noncoding transcript Het
Slco6d1 G A 1: 98,418,341 (GRCm39) G509D probably damaging Het
Spen A G 4: 141,199,132 (GRCm39) V3142A probably damaging Het
Spta1 T A 1: 174,050,250 (GRCm39) H1763Q probably damaging Het
Srcap T C 7: 127,159,124 (GRCm39) probably benign Het
Stard9 T C 2: 120,543,328 (GRCm39) probably benign Het
Stat4 A G 1: 52,111,106 (GRCm39) probably benign Het
Svbp T A 4: 119,053,225 (GRCm39) probably benign Het
Tm2d1 A T 4: 98,258,833 (GRCm39) probably benign Het
Trpv1 C A 11: 73,130,952 (GRCm39) probably null Het
Trrap A G 5: 144,794,232 (GRCm39) D3713G possibly damaging Het
Ubr1 T A 2: 120,786,125 (GRCm39) D165V probably benign Het
Utrn C A 10: 12,524,897 (GRCm39) M2195I probably benign Het
Vmn1r229 G A 17: 21,034,904 (GRCm39) V50I possibly damaging Het
Vmn1r44 A T 6: 89,870,632 (GRCm39) H126L probably benign Het
Vmn2r116 T C 17: 23,605,570 (GRCm39) probably benign Het
Vmn2r27 A C 6: 124,168,591 (GRCm39) Y846* probably null Het
Vmn2r84 T A 10: 130,227,859 (GRCm39) S126C possibly damaging Het
Xylb T A 9: 119,197,133 (GRCm39) probably benign Het
Zfp282 A T 6: 47,867,108 (GRCm39) K232* probably null Het
Zfp39 C A 11: 58,781,149 (GRCm39) V538L probably benign Het
Zfp560 T C 9: 20,263,149 (GRCm39) N76D possibly damaging Het
Zmym4 C T 4: 126,804,962 (GRCm39) V433I probably benign Het
Zscan5b A G 7: 6,233,425 (GRCm39) E83G probably damaging Het
Other mutations in Adam33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Adam33 APN 2 130,896,183 (GRCm39) splice site probably benign
IGL01586:Adam33 APN 2 130,895,970 (GRCm39) missense probably damaging 1.00
IGL02156:Adam33 APN 2 130,895,078 (GRCm39) splice site probably benign
IGL02498:Adam33 APN 2 130,895,157 (GRCm39) missense probably damaging 1.00
3-1:Adam33 UTSW 2 130,896,041 (GRCm39) splice site probably null
R0012:Adam33 UTSW 2 130,894,840 (GRCm39) missense probably damaging 1.00
R0471:Adam33 UTSW 2 130,896,399 (GRCm39) missense probably damaging 0.99
R2071:Adam33 UTSW 2 130,897,266 (GRCm39) missense probably benign 0.01
R2095:Adam33 UTSW 2 130,895,629 (GRCm39) missense probably damaging 1.00
R2383:Adam33 UTSW 2 130,893,282 (GRCm39) missense probably benign 0.01
R4077:Adam33 UTSW 2 130,905,444 (GRCm39) utr 5 prime probably benign
R4403:Adam33 UTSW 2 130,895,190 (GRCm39) missense probably benign 0.03
R4821:Adam33 UTSW 2 130,903,115 (GRCm39) missense probably benign 0.03
R5110:Adam33 UTSW 2 130,895,690 (GRCm39) missense probably damaging 1.00
R5150:Adam33 UTSW 2 130,895,117 (GRCm39) intron probably benign
R5364:Adam33 UTSW 2 130,896,392 (GRCm39) critical splice donor site probably null
R5632:Adam33 UTSW 2 130,895,362 (GRCm39) missense probably damaging 1.00
R5818:Adam33 UTSW 2 130,896,278 (GRCm39) missense possibly damaging 0.51
R6226:Adam33 UTSW 2 130,897,530 (GRCm39) missense probably damaging 1.00
R6478:Adam33 UTSW 2 130,893,266 (GRCm39) missense probably benign 0.01
R6755:Adam33 UTSW 2 130,895,069 (GRCm39) missense probably damaging 1.00
R7230:Adam33 UTSW 2 130,895,483 (GRCm39) missense probably damaging 1.00
R7322:Adam33 UTSW 2 130,895,614 (GRCm39) missense probably damaging 1.00
R7395:Adam33 UTSW 2 130,903,089 (GRCm39) missense probably benign 0.00
R7650:Adam33 UTSW 2 130,903,067 (GRCm39) missense probably damaging 1.00
R7783:Adam33 UTSW 2 130,900,257 (GRCm39) missense unknown
R7809:Adam33 UTSW 2 130,893,266 (GRCm39) missense probably benign
R7932:Adam33 UTSW 2 130,905,617 (GRCm39) unclassified probably benign
R8210:Adam33 UTSW 2 130,898,250 (GRCm39) missense probably benign
R8969:Adam33 UTSW 2 130,894,994 (GRCm39) missense probably damaging 1.00
R9102:Adam33 UTSW 2 130,897,737 (GRCm39) missense probably benign 0.01
R9449:Adam33 UTSW 2 130,895,606 (GRCm39) missense possibly damaging 0.47
R9650:Adam33 UTSW 2 130,894,989 (GRCm39) missense possibly damaging 0.48
R9720:Adam33 UTSW 2 130,900,236 (GRCm39) missense
Z1177:Adam33 UTSW 2 130,900,582 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TAGGTAAGCTCAGAGTTCGCAGGG -3'
(R):5'- TAGACTGGCAGAGCACGGCTAAAC -3'

Sequencing Primer
(F):5'- CAGAGTTCGCAGGGTCTGAG -3'
(R):5'- GTGACGCCTACATCTAGACTGAG -3'
Posted On 2014-03-14