Incidental Mutation 'IGL02929:Adam32'
ID 364003
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 # IGL02929
Quality Score
Status
Chromosome 8
Chromosomal Location 25326156-25438820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25362659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 13 (V13L)
Ref Sequence ENSEMBL: ENSMUSP00000133631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119720] [ENSMUST00000121438] [ENSMUST00000173069]
AlphaFold Q8K410
Predicted Effect probably benign
Transcript: ENSMUST00000119720
AA Change: V589L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: V589L

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 benign
Transcript: ENSMUST00000121438
AA Change: V589L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: V589L

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: ENSMUST00000140573
SMART Domains Protein: ENSMUSP00000133843
Gene: ENSMUSG00000037437

DomainStartEndE-ValueType
Blast:DISIN 2 22 5e-7 BLAST
Pfam:ADAM_CR 24 71 1.3e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173069
AA Change: V13L

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133631
Gene: ENSMUSG00000037437
AA Change: V13L

DomainStartEndE-ValueType
Blast:ACR 1 46 7e-25 BLAST
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign 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
IGL01501:Adam32 APN 8 25,404,369 (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
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 2015-12-18