Incidental Mutation 'R0189:Adam32'
ID 43485
Institutional Source Beutler Lab
Gene Symbol Adam32
Ensembl Gene ENSMUSG00000037437
Gene Name a disintegrin and metallopeptidase domain 32
Synonyms
MMRRC Submission 038450-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0189 (G1)
Quality Score 154
Status Validated (trace)
Chromosome 8
Chromosomal Location 25326156-25438820 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 25412353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119720] [ENSMUST00000121438]
AlphaFold Q8K410
Predicted Effect probably null
Transcript: ENSMUST00000119720
SMART Domains Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437

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 null
Transcript: ENSMUST00000121438
SMART Domains Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437

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 noncoding transcript
Transcript: ENSMUST00000133088
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
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.1%
Validation Efficiency 98% (96/98)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 109,999,479 (GRCm39) W1459R probably damaging Het
Abca9 A T 11: 110,032,488 (GRCm39) probably benign Het
Adam25 T A 8: 41,208,467 (GRCm39) C578S probably damaging Het
Add1 T C 5: 34,773,992 (GRCm39) V67A probably benign Het
Aggf1 A T 13: 95,492,988 (GRCm39) probably benign Het
Ahcyl2 A T 6: 29,891,242 (GRCm39) I449F probably benign Het
Ak6 A G 13: 100,791,650 (GRCm39) Y31C probably damaging Het
Akap6 T C 12: 53,188,037 (GRCm39) V1817A probably benign Het
Arhgef17 G T 7: 100,578,057 (GRCm39) P964T probably damaging Het
Atxn7l3b A T 10: 112,764,485 (GRCm39) L48Q possibly damaging Het
Bbs10 T G 10: 111,136,926 (GRCm39) S680A probably damaging Het
Bcl7c G A 7: 127,304,936 (GRCm39) T164I probably damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Ccdc110 T A 8: 46,388,119 (GRCm39) D25E probably damaging Het
Ccdc83 T A 7: 89,875,891 (GRCm39) T327S possibly damaging Het
Coro1b T C 19: 4,203,250 (GRCm39) Y364H probably damaging Het
Cstf3 A G 2: 104,482,791 (GRCm39) D313G probably damaging Het
Dlgap5 T A 14: 47,650,432 (GRCm39) probably null Het
Dusp3 A T 11: 101,872,547 (GRCm39) I83N probably damaging Het
Eea1 A T 10: 95,831,444 (GRCm39) K178N possibly damaging Het
Efr3b T A 12: 4,032,925 (GRCm39) D144V probably damaging Het
Gfus C A 15: 75,798,827 (GRCm39) D127Y probably damaging Het
Gm1110 T A 9: 26,794,514 (GRCm39) E504V probably null Het
Got2 T C 8: 96,614,881 (GRCm39) H18R probably benign Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Has2 A T 15: 56,531,831 (GRCm39) F295I probably damaging Het
Hcn3 T C 3: 89,056,107 (GRCm39) D519G probably damaging Het
Ino80 T A 2: 119,210,160 (GRCm39) D1377V probably benign Het
Iqsec3 A T 6: 121,390,521 (GRCm39) probably benign Het
Kif3c T A 12: 3,415,989 (GRCm39) S3R probably benign Het
Krt17 A G 11: 100,151,445 (GRCm39) I116T possibly damaging Het
Lrba T C 3: 86,275,816 (GRCm39) V1728A probably damaging Het
Map3k6 G T 4: 132,974,252 (GRCm39) V550L possibly damaging Het
Mcph1 T C 8: 18,838,487 (GRCm39) V803A probably damaging Het
Med13 A G 11: 86,210,702 (GRCm39) V480A probably benign Het
Ms4a20 A G 19: 11,074,311 (GRCm39) V207A possibly damaging Het
Msh5 T C 17: 35,248,630 (GRCm39) E772G probably null Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ndfip2 T C 14: 105,542,174 (GRCm39) L308P probably damaging Het
Ndufb10 T C 17: 24,943,209 (GRCm39) T34A probably benign Het
Nipal3 A T 4: 135,195,829 (GRCm39) I258N possibly damaging Het
Nup54 A G 5: 92,570,423 (GRCm39) V328A probably damaging Het
Oprm1 T C 10: 6,739,071 (GRCm39) V66A possibly damaging Het
Or10p21 T A 10: 128,847,191 (GRCm39) F12L possibly damaging Het
Or51ah3 G T 7: 103,210,289 (GRCm39) V202F probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or8b56 T A 9: 38,739,111 (GRCm39) Y41* probably null Het
Or9s14 T C 1: 92,535,615 (GRCm39) F19L probably damaging Het
Peg12 G A 7: 62,113,296 (GRCm39) T267I unknown Het
Phf20 A G 2: 156,145,061 (GRCm39) S890G probably benign Het
Plk2 C T 13: 110,535,997 (GRCm39) T567M probably damaging Het
Pola2 A T 19: 5,992,370 (GRCm39) probably benign Het
Ppp1r12b A G 1: 134,793,514 (GRCm39) probably null Het
Prickle1 A T 15: 93,400,900 (GRCm39) L528* probably null Het
Prpf6 T A 2: 181,297,250 (GRCm39) N903K probably benign Het
Ptprc G A 1: 138,010,453 (GRCm39) A601V probably benign Het
Ranbp1 A T 16: 18,059,607 (GRCm39) probably null Het
Rapgef6 C T 11: 54,582,075 (GRCm39) S1334L probably benign Het
Rgs2 T C 1: 143,878,022 (GRCm39) probably null Het
Ripk2 A T 4: 16,129,125 (GRCm39) probably null Het
Rnf17 A G 14: 56,719,650 (GRCm39) S967G probably null Het
Rock2 T A 12: 17,009,517 (GRCm39) probably benign Het
Rpusd3 C T 6: 113,392,514 (GRCm39) probably null Het
Scgb1b20 G T 7: 33,072,935 (GRCm39) V48L probably benign Het
Sec16a T A 2: 26,314,426 (GRCm39) probably null Het
Serpina5 T A 12: 104,069,589 (GRCm39) L267H probably damaging Het
Slc12a3 C T 8: 95,082,986 (GRCm39) H875Y probably benign Het
Slc45a4 A G 15: 73,453,763 (GRCm39) S745P probably benign Het
Sucla2 T C 14: 73,830,088 (GRCm39) V375A probably damaging Het
Sun2 C A 15: 79,621,277 (GRCm39) V213F probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 C T 6: 7,562,424 (GRCm39) R129C probably damaging Het
Taf6 T C 5: 138,180,975 (GRCm39) E202G probably benign Het
Tex21 T A 12: 76,286,307 (GRCm39) H64L probably benign Het
Tgs1 A G 4: 3,593,620 (GRCm39) S503G probably benign Het
Tmem184c C T 8: 78,324,441 (GRCm39) V350I possibly damaging Het
Tnks1bp1 A G 2: 84,901,273 (GRCm39) S960G possibly damaging Het
Trbc2 T C 6: 41,525,083 (GRCm39) probably benign Het
Tubgcp2 A T 7: 139,581,518 (GRCm39) probably benign Het
Vmn1r39 T A 6: 66,782,181 (GRCm39) T46S probably benign Het
Vmn1r61 T C 7: 5,613,699 (GRCm39) H205R probably benign Het
Zdhhc14 T C 17: 5,775,539 (GRCm39) S264P possibly damaging Het
Zfp101 T A 17: 33,601,213 (GRCm39) H181L possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTGTTGGGAAACCAACCACTC -3'
(R):5'- TGTCAAAGGAAATGCTACCACCATGTC -3'

Sequencing Primer
(F):5'- GGAAACCAACCACTCAGTTATTTTG -3'
(R):5'- CAGAGTTTGCTGATGGTTGC -3'
Posted On 2013-05-24