Incidental Mutation 'R2907:Adam32'
ID 261693
Institutional Source Beutler Lab
Gene Symbol Adam32
Ensembl Gene ENSMUSG00000037437
Gene Name a disintegrin and metallopeptidase domain 32
Synonyms
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2907 (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: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly 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
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V 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
R2906: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