Incidental Mutation 'R0012:Adam33'
ID 32529
Institutional Source Beutler Lab
Gene Symbol Adam33
Ensembl Gene ENSMUSG00000027318
Gene Name a disintegrin and metallopeptidase domain 33
Synonyms
MMRRC Submission 038307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0012 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130892739-130905734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130894840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 687 (L687Q)
Ref Sequence ENSEMBL: ENSMUSP00000052486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052104] [ENSMUST00000110232] [ENSMUST00000183552]
AlphaFold Q923W9
Predicted Effect probably damaging
Transcript: ENSMUST00000052104
AA Change: L687Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: L687Q

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 damaging
Transcript: ENSMUST00000110232
AA Change: L713Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: L713Q

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 damaging
Transcript: ENSMUST00000183552
AA Change: L713Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: L713Q

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: ENSMUST00000147333
SMART Domains Protein: ENSMUSP00000117097
Gene: ENSMUSG00000027318

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 138 150 N/A INTRINSIC
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: ENSMUST00000184921
Meta Mutation Damage Score 0.3319 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 A G 5: 139,293,489 (GRCm39) probably benign Het
Add2 T A 6: 86,075,610 (GRCm39) V253E probably damaging Het
Agtr1a A T 13: 30,565,732 (GRCm39) I266F probably damaging Het
Anxa9 A G 3: 95,215,406 (GRCm39) probably benign Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
Bnip3 A G 7: 138,500,401 (GRCm39) probably benign Het
Brwd1 A C 16: 95,860,852 (GRCm39) S311R probably damaging Het
C2cd3 G A 7: 100,067,729 (GRCm39) V871M possibly damaging Het
Cacul1 A G 19: 60,552,691 (GRCm39) W145R probably damaging Het
Celf5 C A 10: 81,305,346 (GRCm39) V141L probably damaging Het
Cfap206 C A 4: 34,714,519 (GRCm39) L392F possibly damaging Het
Chd2 G T 7: 73,105,267 (GRCm39) T192K probably damaging Het
Chrna10 T C 7: 101,764,264 (GRCm39) N40S possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clspn T A 4: 126,458,722 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col5a3 A T 9: 20,688,404 (GRCm39) probably benign Het
Copb1 T A 7: 113,836,643 (GRCm39) K366N probably damaging Het
Cul9 G A 17: 46,849,436 (GRCm39) R570C probably benign Het
Cyp2c70 A T 19: 40,175,687 (GRCm39) L7Q probably null Het
Dock2 T C 11: 34,674,622 (GRCm39) E10G possibly damaging Het
Dpysl4 T G 7: 138,677,799 (GRCm39) I412S probably benign Het
Eaf2 T A 16: 36,628,536 (GRCm39) probably benign Het
Fasl T C 1: 161,615,733 (GRCm39) D41G probably benign Het
Fat2 A G 11: 55,153,697 (GRCm39) V3505A probably benign Het
Fbxo24 A G 5: 137,620,256 (GRCm39) F101S probably damaging Het
Fdft1 T C 14: 63,415,147 (GRCm39) I28M probably benign Het
Gcnt3 T C 9: 69,941,367 (GRCm39) I400M probably benign Het
Get3 T C 8: 85,751,725 (GRCm39) probably benign Het
Gpd2 T A 2: 57,228,880 (GRCm39) M228K probably damaging Het
Gsap T A 5: 21,431,227 (GRCm39) probably benign Het
Hipk1 A G 3: 103,670,996 (GRCm39) M467T probably damaging Het
Hmgb4 T A 4: 128,154,518 (GRCm39) I17F probably damaging Het
Ints10 C A 8: 69,260,127 (GRCm39) L284M probably benign Het
Kif17 T G 4: 138,021,059 (GRCm39) S606A probably damaging Het
Lifr C A 15: 7,205,089 (GRCm39) T442K possibly damaging Het
Lypd4 A G 7: 24,564,757 (GRCm39) L127P probably damaging Het
Lyst A G 13: 13,862,279 (GRCm39) H2605R probably benign Het
Map3k4 A G 17: 12,457,076 (GRCm39) S1289P probably damaging Het
Mgam T A 6: 40,742,190 (GRCm39) probably null Het
Mob1b G A 5: 88,903,943 (GRCm39) probably benign Het
Mrgpra1 A G 7: 46,985,218 (GRCm39) S154P probably damaging Het
Ms4a4c C A 19: 11,396,344 (GRCm39) probably benign Het
Mthfd2l A T 5: 91,109,242 (GRCm39) H224L probably damaging Het
Myh8 T C 11: 67,190,847 (GRCm39) Y1350H probably benign Het
Nectin2 T C 7: 19,464,669 (GRCm39) probably benign Het
Nos1 A C 5: 118,031,967 (GRCm39) N305T probably damaging Het
Ogfrl1 T A 1: 23,409,206 (GRCm39) Q340L possibly damaging Het
Or2aj5 T C 16: 19,425,190 (GRCm39) N76S probably benign Het
Or4f62 A T 2: 111,987,171 (GRCm39) N292Y possibly damaging Het
Or6k14 T G 1: 173,927,773 (GRCm39) F250V probably damaging Het
Or9i1 C A 19: 13,839,187 (GRCm39) T10K probably damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Plekhg5 C A 4: 152,189,207 (GRCm39) D249E probably benign Het
Plet1 A G 9: 50,410,430 (GRCm39) I74V probably benign Het
Psmd2 T A 16: 20,480,434 (GRCm39) D718E probably damaging Het
Rab33b G T 3: 51,391,737 (GRCm39) probably benign Het
Rae1 T A 2: 172,844,466 (GRCm39) F4I unknown Het
Ralgapa2 A G 2: 146,254,672 (GRCm39) Y821H probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Sharpin G T 15: 76,232,543 (GRCm39) P156T possibly damaging Het
Slc38a4 C T 15: 96,897,510 (GRCm39) R435H probably damaging Het
Snrnp200 T C 2: 127,070,469 (GRCm39) V1061A probably benign Het
Suclg1 A G 6: 73,247,980 (GRCm39) T234A possibly damaging Het
Swsap1 T C 9: 21,868,318 (GRCm39) C197R probably benign Het
Tbx15 A G 3: 99,259,412 (GRCm39) T428A probably benign Het
Tet2 T C 3: 133,182,319 (GRCm39) Y1215C probably damaging Het
Tjp1 A G 7: 64,979,523 (GRCm39) probably benign Het
Tmem209 G T 6: 30,502,112 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,589,176 (GRCm39) E58G probably damaging Het
Trp53bp2 T A 1: 182,272,283 (GRCm39) M464K probably damaging Het
Ttc32 A G 12: 9,085,897 (GRCm39) Y148C possibly damaging Het
Unc80 T C 1: 66,546,550 (GRCm39) S541P probably damaging Het
Ushbp1 T C 8: 71,847,684 (GRCm39) probably benign Het
Vmn2r100 A G 17: 19,725,136 (GRCm39) M22V probably benign Het
Vmn2r100 A T 17: 19,746,296 (GRCm39) E485V probably damaging Het
Wdr24 G A 17: 26,046,087 (GRCm39) V471I probably benign Het
Zfp35 T A 18: 24,136,001 (GRCm39) M115K probably benign Het
Zfp429 G A 13: 67,538,796 (GRCm39) S216L probably benign Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A probably benign 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
R0471:Adam33 UTSW 2 130,896,399 (GRCm39) missense probably damaging 0.99
R1401:Adam33 UTSW 2 130,893,391 (GRCm39) unclassified probably benign
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'- TGTAGCCTCTCACTCTACAAAGCCC -3'
(R):5'- TGCTTGACTGCCTGCCATAACG -3'

Sequencing Primer
(F):5'- TCTCACTCTACAAAGCCCTGAAG -3'
(R):5'- GCAATCGTAACTGTCACTGTG -3'
Posted On 2013-05-09