Incidental Mutation 'R4821:Adam33'
ID 370204
Institutional Source Beutler Lab
Gene Symbol Adam33
Ensembl Gene ENSMUSG00000027318
Gene Name a disintegrin and metallopeptidase domain 33
Synonyms
MMRRC Submission 042437-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4821 (G1)
Quality Score 221
Status Validated
Chromosome 2
Chromosomal Location 130892739-130905734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130903115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 43 (P43L)
Ref Sequence ENSEMBL: ENSMUSP00000139344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052104] [ENSMUST00000110232] [ENSMUST00000183552]
AlphaFold Q923W9
Predicted Effect probably benign
Transcript: ENSMUST00000052104
AA Change: P43L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: P43L

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
AA Change: P43L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: P43L

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: ENSMUST00000124481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134742
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 unknown
Transcript: ENSMUST00000147333
AA Change: P42L
SMART Domains Protein: ENSMUSP00000117097
Gene: ENSMUSG00000027318
AA Change: P42L

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: ENSMUST00000183552
AA Change: P43L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: P43L

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
Meta Mutation Damage Score 0.0787 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (79/79)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,871 (GRCm39) K150R probably damaging Het
Aak1 T C 6: 86,827,171 (GRCm39) V46A probably damaging Het
Abcb9 T C 5: 124,228,212 (GRCm39) T10A probably benign Het
Acaca A G 11: 84,185,813 (GRCm39) D116G possibly damaging Het
Adamtsl2 T A 2: 26,988,604 (GRCm39) probably null Het
Akap13 A G 7: 75,327,255 (GRCm39) probably benign Het
Art1 T A 7: 101,756,385 (GRCm39) L192Q probably damaging Het
Baalc A G 15: 38,796,575 (GRCm39) probably benign Het
Baz2a A G 10: 127,946,978 (GRCm39) E164G probably damaging Het
Bcs1l A G 1: 74,631,144 (GRCm39) I391V probably benign Het
Cacna1c T C 6: 118,673,386 (GRCm39) T497A probably damaging Het
Cap2 C A 13: 46,763,586 (GRCm39) T164N probably damaging Het
Ccdc57 A G 11: 120,751,225 (GRCm39) probably null Het
Ccdc88c T C 12: 100,904,338 (GRCm39) N1120S probably benign Het
Cfap210 T C 2: 69,612,452 (GRCm39) E96G possibly damaging Het
Chd7 T A 4: 8,844,706 (GRCm39) V1605D probably damaging Het
Col12a1 A T 9: 79,622,622 (GRCm39) probably benign Het
Commd3 T C 2: 18,677,339 (GRCm39) S22P probably benign Het
Cpd T C 11: 76,737,063 (GRCm39) I244V probably benign Het
Cpeb2 C A 5: 43,390,817 (GRCm39) probably benign Het
Cyp2c65 A G 19: 39,060,635 (GRCm39) D165G probably damaging Het
Ddx1 T C 12: 13,289,148 (GRCm39) Y152C probably damaging Het
Dennd4a G A 9: 64,804,531 (GRCm39) C1290Y possibly damaging Het
Ebf4 G A 2: 130,148,965 (GRCm39) M232I probably benign Het
Farp2 A G 1: 93,502,192 (GRCm39) probably null Het
Frk T C 10: 34,360,233 (GRCm39) V78A probably benign Het
Gm5799 A G 14: 43,782,098 (GRCm39) D90G probably damaging Het
Gpr45 C G 1: 43,069,613 (GRCm39) probably benign Het
Hfm1 C T 5: 107,002,606 (GRCm39) probably null Het
Igkv4-57-1 T A 6: 69,521,387 (GRCm39) D105V probably damaging Het
Impdh2-ps A G 8: 100,757,995 (GRCm39) noncoding transcript Het
Kctd4 G A 14: 76,200,217 (GRCm39) V63I probably benign Het
Lcn6 T A 2: 25,570,822 (GRCm39) L137M probably damaging Het
Lonrf1 T C 8: 36,687,126 (GRCm39) N737D probably benign Het
Mcu C T 10: 59,303,511 (GRCm39) V109M probably damaging Het
Mecom C A 3: 30,039,500 (GRCm39) K186N probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mybpc1 T C 10: 88,384,727 (GRCm39) D533G probably damaging Het
Nae1 A C 8: 105,246,416 (GRCm39) C294G probably damaging Het
Ncapg2 T G 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nkx2-2 A T 2: 147,027,763 (GRCm39) L59Q possibly damaging Het
Nrxn3 C T 12: 90,171,483 (GRCm39) T295I probably damaging Het
Obscn C T 11: 58,897,652 (GRCm39) probably benign Het
Obscn A T 11: 58,931,293 (GRCm39) M5781K probably damaging Het
Or11g24 A G 14: 50,662,206 (GRCm39) T77A possibly damaging Het
Or4k39 T C 2: 111,239,570 (GRCm39) noncoding transcript Het
Or4z4 T A 19: 12,076,110 (GRCm39) M298L probably benign Het
Pcdhb6 C A 18: 37,467,381 (GRCm39) P101T probably damaging Het
Pot1b A G 17: 55,979,885 (GRCm39) S324P possibly damaging Het
Potefam1 T C 2: 111,034,490 (GRCm39) probably null Het
Ppcdc C T 9: 57,342,194 (GRCm39) V43I probably benign Het
Prr13 A T 15: 102,369,120 (GRCm39) probably benign Het
Rab10os T A 12: 3,287,322 (GRCm39) noncoding transcript Het
Rabgap1 T C 2: 37,422,531 (GRCm39) S595P probably damaging Het
Rap1gap T C 4: 137,439,440 (GRCm39) S126P probably damaging Het
Rgs6 A T 12: 83,114,185 (GRCm39) probably null Het
Slc5a6 T A 5: 31,194,228 (GRCm39) K610* probably null Het
Sun5 C T 2: 153,711,386 (GRCm39) V27I probably benign Het
Tmco5b T C 2: 113,120,102 (GRCm39) I126T probably benign Het
Tmed7 G A 18: 46,726,480 (GRCm39) Q92* probably null Het
Trav7d-2 A G 14: 52,921,885 (GRCm39) D98G probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Ush2a T C 1: 188,485,848 (GRCm39) V2986A probably benign Het
Usp33 T C 3: 152,064,310 (GRCm39) V58A probably benign Het
Vmn2r94 T A 17: 18,477,293 (GRCm39) M373L probably benign Het
Ywhaq T C 12: 21,467,512 (GRCm39) probably benign Het
Zbbx G A 3: 74,989,054 (GRCm39) H345Y possibly damaging Het
Zfp346 G T 13: 55,261,626 (GRCm39) probably benign Het
Zfp616 C T 11: 73,975,033 (GRCm39) A434V probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y 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
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
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'- GGAGTGGCTTAACGGTACAG -3'
(R):5'- CGCTTCAAATTCCCCAATGG -3'

Sequencing Primer
(F):5'- CGGTACAGTGATTTGGTTCTGAGAAC -3'
(R):5'- CCAATGGGGATGGTTCCTG -3'
Posted On 2016-02-04