Incidental Mutation 'R2906:Adam32'
ID 261655
Institutional Source Beutler Lab
Gene Symbol Adam32
Ensembl Gene ENSMUSG00000037437
Gene Name a disintegrin and metallopeptidase domain 32
Synonyms
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2906 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 25326156-25438820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25353520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 690 (W690R)
Ref Sequence ENSEMBL: ENSMUSP00000113627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119720] [ENSMUST00000121438] [ENSMUST00000173069] [ENSMUST00000173559]
AlphaFold Q8K410
Predicted Effect probably benign
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 damaging
Transcript: ENSMUST00000121438
AA Change: W690R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: W690R

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 noncoding transcript
Transcript: ENSMUST00000156719
Predicted Effect probably benign
Transcript: ENSMUST00000173069
SMART Domains Protein: ENSMUSP00000133631
Gene: ENSMUSG00000037437

DomainStartEndE-ValueType
Blast:ACR 1 46 7e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173559
Meta Mutation Damage Score 0.6169 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G 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
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
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'- GACACTTTATGTAGCAAGGTCCTAATG -3'
(R):5'- TCCATGTCTTGGGGTCGATC -3'

Sequencing Primer
(F):5'- GCAAGGTCCTAATGCTACTTTAATG -3'
(R):5'- GCCTTCTAATGGCTCACAT -3'
Posted On 2015-01-23