Incidental Mutation 'IGL01501:Adam32'
ID 88920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam32
Ensembl Gene ENSMUSG00000037437
Gene Name a disintegrin and metallopeptidase domain 32
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01501
Quality Score
Status
Chromosome 8
Chromosomal Location 25326156-25438820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25404369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 212 (N212I)
Ref Sequence ENSEMBL: ENSMUSP00000113627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119720] [ENSMUST00000121438]
AlphaFold Q8K410
Predicted Effect probably damaging
Transcript: ENSMUST00000119720
AA Change: N212I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: N212I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 32 145 4.5e-32 PFAM
Pfam:Reprolysin 187 384 4.1e-66 PFAM
Pfam:Reprolysin_3 211 318 6.2e-7 PFAM
DISIN 400 481 2.69e-16 SMART
ACR 482 622 6.83e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121438
AA Change: N212I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: N212I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 24 145 8.4e-26 PFAM
Pfam:Reprolysin 187 384 1.3e-68 PFAM
DISIN 400 481 2.69e-16 SMART
ACR 482 622 6.83e-38 SMART
EGF 631 660 1.73e0 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 719 754 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174059
SMART Domains Protein: ENSMUSP00000134680
Gene: ENSMUSG00000037437

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Pep_M12B_propep 19 141 4.6e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene was found to be expressed predominantly in the pachytene spermatocytes, where the processed protein is localized to the sperm surface. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T G 17: 56,109,002 (GRCm39) probably benign Het
Amer3 G A 1: 34,627,398 (GRCm39) V546M probably benign Het
Arfgef3 A G 10: 18,476,308 (GRCm39) S1504P possibly damaging Het
D630003M21Rik G A 2: 158,042,987 (GRCm39) A851V probably benign Het
Ddhd2 A T 8: 26,225,857 (GRCm39) M500K probably damaging Het
Fig4 A G 10: 41,146,370 (GRCm39) S191P probably benign Het
Gabrg3 T C 7: 56,374,214 (GRCm39) T451A probably damaging Het
Gzme T A 14: 56,356,858 (GRCm39) M35L probably damaging Het
Il6st A G 13: 112,616,593 (GRCm39) I47V probably benign Het
Klk1b11 A T 7: 43,649,258 (GRCm39) probably benign Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Or4f14b A G 2: 111,774,863 (GRCm39) *313Q probably null Het
Or5i1 T A 2: 87,613,480 (GRCm39) W199R possibly damaging Het
Ptprz1 A T 6: 22,973,081 (GRCm39) N283I probably damaging Het
Slc25a33 T C 4: 149,840,615 (GRCm39) probably benign Het
Snap91 T C 9: 86,720,178 (GRCm39) M120V probably damaging Het
Tbc1d8 G A 1: 39,428,416 (GRCm39) R510C probably damaging Het
Thoc1 T C 18: 9,986,321 (GRCm39) L351P possibly damaging Het
Tmco5b A G 2: 113,121,726 (GRCm39) K180R probably null Het
Zfp553 G T 7: 126,835,387 (GRCm39) S314I probably damaging Het
Zgrf1 G A 3: 127,396,211 (GRCm39) probably null Het
Other mutations in Adam32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Adam32 APN 8 25,411,370 (GRCm39) missense probably damaging 1.00
IGL00793:Adam32 APN 8 25,327,846 (GRCm39) splice site probably benign
IGL01317:Adam32 APN 8 25,362,597 (GRCm39) missense probably damaging 1.00
IGL01475:Adam32 APN 8 25,362,664 (GRCm39) missense probably damaging 1.00
IGL01659:Adam32 APN 8 25,360,790 (GRCm39) splice site probably benign
IGL01994:Adam32 APN 8 25,392,812 (GRCm39) splice site probably benign
IGL02137:Adam32 APN 8 25,362,610 (GRCm39) missense probably damaging 1.00
IGL02393:Adam32 APN 8 25,410,069 (GRCm39) missense probably damaging 1.00
IGL02516:Adam32 APN 8 25,388,612 (GRCm39) missense probably damaging 1.00
IGL02892:Adam32 APN 8 25,368,727 (GRCm39) intron probably benign
IGL02929:Adam32 APN 8 25,362,659 (GRCm39) missense possibly damaging 0.81
IGL03273:Adam32 APN 8 25,411,356 (GRCm39) missense probably damaging 1.00
PIT4515001:Adam32 UTSW 8 25,404,342 (GRCm39) missense possibly damaging 0.88
R0088:Adam32 UTSW 8 25,404,083 (GRCm39) missense probably damaging 1.00
R0098:Adam32 UTSW 8 25,404,405 (GRCm39) missense possibly damaging 0.79
R0098:Adam32 UTSW 8 25,404,405 (GRCm39) missense possibly damaging 0.79
R0189:Adam32 UTSW 8 25,412,353 (GRCm39) critical splice acceptor site probably null
R1740:Adam32 UTSW 8 25,411,314 (GRCm39) missense probably damaging 1.00
R1853:Adam32 UTSW 8 25,388,642 (GRCm39) missense probably benign 0.02
R2090:Adam32 UTSW 8 25,391,456 (GRCm39) critical splice donor site probably null
R2906:Adam32 UTSW 8 25,353,520 (GRCm39) missense probably damaging 1.00
R2907:Adam32 UTSW 8 25,353,520 (GRCm39) missense probably damaging 1.00
R4304:Adam32 UTSW 8 25,391,545 (GRCm39) missense probably damaging 1.00
R4612:Adam32 UTSW 8 25,362,752 (GRCm39) missense probably damaging 1.00
R4673:Adam32 UTSW 8 25,374,471 (GRCm39) missense probably damaging 1.00
R4786:Adam32 UTSW 8 25,353,509 (GRCm39) missense probably damaging 1.00
R5292:Adam32 UTSW 8 25,354,467 (GRCm39) missense possibly damaging 0.85
R5398:Adam32 UTSW 8 25,362,595 (GRCm39) missense possibly damaging 0.95
R5524:Adam32 UTSW 8 25,412,328 (GRCm39) missense probably damaging 0.99
R5939:Adam32 UTSW 8 25,404,138 (GRCm39) missense probably damaging 1.00
R6350:Adam32 UTSW 8 25,353,445 (GRCm39) missense possibly damaging 0.86
R6766:Adam32 UTSW 8 25,362,646 (GRCm39) missense probably damaging 0.96
R6893:Adam32 UTSW 8 25,368,770 (GRCm39) missense probably damaging 1.00
R7095:Adam32 UTSW 8 25,404,086 (GRCm39) missense probably damaging 1.00
R7241:Adam32 UTSW 8 25,388,510 (GRCm39) missense probably benign 0.00
R7457:Adam32 UTSW 8 25,374,635 (GRCm39) missense probably damaging 0.98
R7864:Adam32 UTSW 8 25,412,292 (GRCm39) missense probably benign 0.11
R8083:Adam32 UTSW 8 25,362,752 (GRCm39) missense probably damaging 1.00
R8248:Adam32 UTSW 8 25,391,486 (GRCm39) missense possibly damaging 0.93
R8376:Adam32 UTSW 8 25,409,936 (GRCm39) missense possibly damaging 0.81
R8681:Adam32 UTSW 8 25,327,811 (GRCm39) missense unknown
R9154:Adam32 UTSW 8 25,438,769 (GRCm39) small deletion probably benign
R9391:Adam32 UTSW 8 25,374,472 (GRCm39) missense probably damaging 0.99
Z1176:Adam32 UTSW 8 25,438,766 (GRCm39) nonsense probably null
Posted On 2013-12-03