Incidental Mutation 'R7230:Adam33'
ID 562406
Institutional Source Beutler Lab
Gene Symbol Adam33
Ensembl Gene ENSMUSG00000027318
Gene Name a disintegrin and metallopeptidase domain 33
Synonyms
MMRRC Submission 045302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7230 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130892739-130905734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130895483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 579 (C579S)
Ref Sequence ENSEMBL: ENSMUSP00000105861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052104] [ENSMUST00000110232] [ENSMUST00000183552]
AlphaFold Q923W9
Predicted Effect probably damaging
Transcript: ENSMUST00000052104
AA Change: C579S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: C579S

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: C579S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: C579S

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
SMART Domains Protein: ENSMUSP00000122608
Gene: ENSMUSG00000027318
AA Change: C437S

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: 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 damaging
Transcript: ENSMUST00000183552
AA Change: C579S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: C579S

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 probably benign
Transcript: ENSMUST00000184921
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A C 7: 45,766,812 (GRCm39) D989E probably benign Het
Adad1 A G 3: 37,119,315 (GRCm39) Y132C probably damaging Het
Adam6a A C 12: 113,509,202 (GRCm39) Q525P probably damaging Het
Alpk3 C T 7: 80,743,042 (GRCm39) P953L probably damaging Het
Arb2a G A 13: 77,907,591 (GRCm39) E5K probably damaging Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Bpgm A G 6: 34,464,502 (GRCm39) E73G possibly damaging Het
Cab39 T A 1: 85,775,880 (GRCm39) probably null Het
Ccdc162 A G 10: 41,554,809 (GRCm39) L285P probably damaging Het
Ccdc30 T C 4: 119,196,979 (GRCm39) E429G possibly damaging Het
Cct3 C T 3: 88,220,567 (GRCm39) R260W probably damaging Het
Chd1 C A 17: 15,927,199 (GRCm39) probably null Het
Cxcr4 T G 1: 128,517,527 (GRCm39) T45P probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dlec1 T G 9: 118,953,606 (GRCm39) probably null Het
Dram2 T G 3: 106,480,294 (GRCm39) Y202* probably null Het
Etl4 C A 2: 20,802,799 (GRCm39) T1035K probably damaging Het
F5 T C 1: 164,012,522 (GRCm39) F479L probably benign Het
Frrs1l C A 4: 56,972,372 (GRCm39) G110W probably damaging Het
Gpbp1l1 T A 4: 116,445,807 (GRCm39) I303N probably damaging Het
Grik5 A G 7: 24,722,495 (GRCm39) F538S probably damaging Het
Hgsnat C A 8: 26,444,860 (GRCm39) probably null Het
Hs2st1 T C 3: 144,140,307 (GRCm39) D338G probably benign Het
Impdh1 T C 6: 29,206,062 (GRCm39) probably null Het
Ipo9 T C 1: 135,334,496 (GRCm39) probably benign Het
Kdm4b T G 17: 56,676,155 (GRCm39) L220R probably damaging Het
Map1a T A 2: 121,131,299 (GRCm39) F705Y probably damaging Het
Med22 C T 2: 26,798,223 (GRCm39) D99N probably benign Het
Muc6 T C 7: 141,235,479 (GRCm39) Y519C probably damaging Het
Myt1l A G 12: 29,833,873 (GRCm39) I25M probably damaging Het
Ncam1 T A 9: 49,421,123 (GRCm39) I731F probably benign Het
Nlrp4f T A 13: 65,342,715 (GRCm39) H310L probably benign Het
Or2ag1b A T 7: 106,288,731 (GRCm39) M69K possibly damaging Het
Or2ag2b C A 7: 106,417,386 (GRCm39) T32K possibly damaging Het
Or4f14 T A 2: 111,742,906 (GRCm39) Y123F probably damaging Het
Or4k40 A T 2: 111,251,261 (GRCm39) F12I probably damaging Het
Prl8a6 T A 13: 27,617,021 (GRCm39) Y223F probably benign Het
Prss39 A G 1: 34,541,228 (GRCm39) D244G probably damaging Het
Ptx4 A T 17: 25,342,077 (GRCm39) Q184L possibly damaging Het
Slc26a1 A T 5: 108,819,611 (GRCm39) D545E probably damaging Het
Slc7a12 T C 3: 14,570,441 (GRCm39) S398P probably damaging Het
Slc9a4 T C 1: 40,639,931 (GRCm39) V241A probably damaging Het
Snw1 T C 12: 87,511,324 (GRCm39) D109G probably damaging Het
Syne2 T A 12: 75,980,674 (GRCm39) I1477K probably benign Het
Timd4 A T 11: 46,701,691 (GRCm39) Y18F probably benign Het
Tmprss2 A G 16: 97,379,797 (GRCm39) Y168H probably benign Het
Ttn A T 2: 76,569,044 (GRCm39) I27283K probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vasn C T 16: 4,467,486 (GRCm39) R478C probably benign Het
Zfp58 A T 13: 67,640,082 (GRCm39) C136* probably null 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
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
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'- GGCATGGAGGACTCAATAACC -3'
(R):5'- GAATTCGCAAGGGAACTGTG -3'

Sequencing Primer
(F):5'- AGGGCTCACCATTCTAGGTC -3'
(R):5'- ACTGTGGCCAGGACCACAAG -3'
Posted On 2019-06-26