Incidental Mutation 'R3441:Adam3'
ID 267384
Institutional Source Beutler Lab
Gene Symbol Adam3
Ensembl Gene ENSMUSG00000031553
Gene Name ADAM metallopeptidase domain 3
Synonyms Taz83, tMDC, Taz83, Cyrn1, ADAM3
MMRRC Submission 040659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3441 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 25167241-25215868 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 25170759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033958] [ENSMUST00000167431] [ENSMUST00000170318] [ENSMUST00000171438]
AlphaFold F8VQ03
Predicted Effect unknown
Transcript: ENSMUST00000033958
AA Change: E815G
SMART Domains Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: E815G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 144 3.8e-30 PFAM
Pfam:Reprolysin_5 185 361 6.8e-9 PFAM
Pfam:Reprolysin 187 384 1.6e-64 PFAM
Pfam:Reprolysin_3 211 333 1.2e-8 PFAM
DISIN 404 482 5.58e-32 SMART
ACR 483 614 4.1e-50 SMART
EGF 622 653 1.66e1 SMART
transmembrane domain 689 709 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158677
Predicted Effect probably benign
Transcript: ENSMUST00000167431
SMART Domains Protein: ENSMUSP00000127479
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170318
SMART Domains Protein: ENSMUSP00000132620
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 118 1.3e-19 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000171438
AA Change: E815G
SMART Domains Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: E815G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 23 144 2.4e-22 PFAM
Pfam:Reprolysin_5 185 361 7.8e-9 PFAM
Pfam:Reprolysin 187 384 4.1e-64 PFAM
Pfam:Reprolysin_3 211 321 1e-8 PFAM
DISIN 404 482 5.58e-32 SMART
ACR 483 614 4.1e-50 SMART
EGF 622 653 1.66e1 SMART
transmembrane domain 689 709 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (34/35)
MGI Phenotype PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are male infertile, due to the inability of the sperm to bind to the zona pellucida. If the zona pellucida is removed sperm-egg membrane fusion happens as expected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5b1 A G 19: 5,620,011 (GRCm39) H477R probably benign Het
Asz1 A C 6: 18,108,405 (GRCm39) S68A probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Btnl6 T C 17: 34,727,292 (GRCm39) K413E probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Clrn3 A C 7: 135,115,854 (GRCm39) Y165* probably null Het
Cp A T 3: 20,029,121 (GRCm39) M533L probably benign Het
Cyba C T 8: 123,151,803 (GRCm39) W103* probably null Het
Epha4 G T 1: 77,403,333 (GRCm39) N95K possibly damaging Het
Fsip2 A G 2: 82,817,071 (GRCm39) N4268S probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Hyal6 C T 6: 24,734,592 (GRCm39) A175V probably benign Het
Kif1a C T 1: 92,964,575 (GRCm39) D1334N possibly damaging Het
Krtap24-1 T C 16: 88,408,713 (GRCm39) T138A probably damaging Het
Mrc2 A T 11: 105,238,542 (GRCm39) T1230S possibly damaging Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Nav3 A G 10: 109,540,789 (GRCm39) F1947S probably benign Het
Or12e1 A G 2: 87,022,162 (GRCm39) I44V probably benign Het
Or6k2 A T 1: 173,986,746 (GRCm39) M136L probably benign Het
Plxnc1 G A 10: 94,706,872 (GRCm39) T555I probably benign Het
Rab21 CCCGCCGCCGCCGCCGCC CCCGCCGCCGCCGCC 10: 115,151,214 (GRCm39) probably benign Het
Rag2 T A 2: 101,460,645 (GRCm39) F318L probably damaging Het
Scgb2b24 G T 7: 33,438,025 (GRCm39) F27L probably damaging Het
Tchh A T 3: 93,352,414 (GRCm39) D618V unknown Het
Teddm1b A G 1: 153,751,007 (GRCm39) E272G probably benign Het
Tenm4 A T 7: 96,202,723 (GRCm39) M88L probably benign Het
Tfpi2 A T 6: 3,965,504 (GRCm39) Y103N probably benign Het
Tmem98 A G 11: 80,705,125 (GRCm39) N71S probably damaging Het
Vmn1r181 A G 7: 23,684,308 (GRCm39) I258V probably benign Het
Other mutations in Adam3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Adam3 APN 8 25,184,294 (GRCm39) missense probably damaging 1.00
IGL01792:Adam3 APN 8 25,187,219 (GRCm39) missense probably benign 0.27
IGL01894:Adam3 APN 8 25,177,954 (GRCm39) missense probably benign 0.33
IGL01941:Adam3 APN 8 25,171,462 (GRCm39) utr 3 prime probably benign
IGL02355:Adam3 APN 8 25,187,207 (GRCm39) missense probably damaging 1.00
IGL02362:Adam3 APN 8 25,187,207 (GRCm39) missense probably damaging 1.00
IGL02511:Adam3 APN 8 25,185,192 (GRCm39) missense probably damaging 0.98
IGL03070:Adam3 APN 8 25,193,800 (GRCm39) missense probably damaging 1.00
IGL03106:Adam3 APN 8 25,205,135 (GRCm39) splice site probably benign
IGL03238:Adam3 APN 8 25,177,981 (GRCm39) splice site probably null
I2288:Adam3 UTSW 8 25,174,677 (GRCm39) missense probably damaging 1.00
R0511:Adam3 UTSW 8 25,185,331 (GRCm39) missense probably damaging 1.00
R1103:Adam3 UTSW 8 25,204,287 (GRCm39) splice site probably benign
R1104:Adam3 UTSW 8 25,171,545 (GRCm39) missense probably benign 0.10
R1430:Adam3 UTSW 8 25,204,287 (GRCm39) splice site probably benign
R1599:Adam3 UTSW 8 25,215,377 (GRCm39) missense possibly damaging 0.50
R1663:Adam3 UTSW 8 25,177,949 (GRCm39) missense probably benign 0.03
R2023:Adam3 UTSW 8 25,179,479 (GRCm39) missense possibly damaging 0.93
R2278:Adam3 UTSW 8 25,201,400 (GRCm39) missense probably damaging 0.99
R3033:Adam3 UTSW 8 25,184,227 (GRCm39) missense probably benign 0.00
R3440:Adam3 UTSW 8 25,170,759 (GRCm39) utr 3 prime probably benign
R3688:Adam3 UTSW 8 25,193,864 (GRCm39) missense probably benign 0.02
R4478:Adam3 UTSW 8 25,185,171 (GRCm39) missense probably benign 0.04
R4654:Adam3 UTSW 8 25,193,819 (GRCm39) missense probably damaging 1.00
R4811:Adam3 UTSW 8 25,201,740 (GRCm39) missense probably benign 0.10
R4910:Adam3 UTSW 8 25,184,321 (GRCm39) missense probably benign 0.03
R4921:Adam3 UTSW 8 25,174,630 (GRCm39) missense probably benign 0.01
R4941:Adam3 UTSW 8 25,167,332 (GRCm39) unclassified probably benign
R5239:Adam3 UTSW 8 25,184,207 (GRCm39) missense possibly damaging 0.62
R5771:Adam3 UTSW 8 25,197,427 (GRCm39) missense probably benign 0.00
R5897:Adam3 UTSW 8 25,187,244 (GRCm39) missense probably benign 0.00
R5916:Adam3 UTSW 8 25,174,555 (GRCm39) critical splice donor site probably null
R5979:Adam3 UTSW 8 25,167,383 (GRCm39) missense probably benign 0.03
R6168:Adam3 UTSW 8 25,171,630 (GRCm39) splice site probably null
R6189:Adam3 UTSW 8 25,201,352 (GRCm39) missense probably benign 0.01
R6801:Adam3 UTSW 8 25,174,680 (GRCm39) missense possibly damaging 0.61
R6997:Adam3 UTSW 8 25,171,539 (GRCm39) missense probably benign 0.10
R7065:Adam3 UTSW 8 25,201,691 (GRCm39) critical splice donor site probably null
R7074:Adam3 UTSW 8 25,184,363 (GRCm39) missense probably benign 0.01
R7151:Adam3 UTSW 8 25,185,271 (GRCm39) missense probably damaging 1.00
R7208:Adam3 UTSW 8 25,201,417 (GRCm39) missense probably damaging 0.98
R7341:Adam3 UTSW 8 25,177,996 (GRCm39) missense possibly damaging 0.60
R7528:Adam3 UTSW 8 25,167,279 (GRCm39) missense unknown
R7797:Adam3 UTSW 8 25,184,660 (GRCm39) missense probably damaging 1.00
R7891:Adam3 UTSW 8 25,197,513 (GRCm39) critical splice acceptor site probably null
R8064:Adam3 UTSW 8 25,171,566 (GRCm39) missense probably benign 0.10
R8157:Adam3 UTSW 8 25,197,453 (GRCm39) missense probably benign 0.27
R8229:Adam3 UTSW 8 25,201,754 (GRCm39) missense probably damaging 0.98
R9007:Adam3 UTSW 8 25,205,127 (GRCm39) missense probably benign 0.02
R9018:Adam3 UTSW 8 25,184,292 (GRCm39) nonsense probably null
R9098:Adam3 UTSW 8 25,179,484 (GRCm39) missense probably damaging 1.00
R9110:Adam3 UTSW 8 25,193,821 (GRCm39) missense probably benign 0.00
R9125:Adam3 UTSW 8 25,213,517 (GRCm39) missense probably damaging 1.00
R9211:Adam3 UTSW 8 25,177,910 (GRCm39) missense probably benign 0.08
R9267:Adam3 UTSW 8 25,171,605 (GRCm39) missense probably benign
R9331:Adam3 UTSW 8 25,177,951 (GRCm39) missense probably benign 0.01
R9432:Adam3 UTSW 8 25,193,928 (GRCm39) missense probably damaging 1.00
R9716:Adam3 UTSW 8 25,204,274 (GRCm39) missense possibly damaging 0.65
X0063:Adam3 UTSW 8 25,201,722 (GRCm39) missense probably damaging 0.96
Z1088:Adam3 UTSW 8 25,171,447 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- AGGTGTGCTCGTTTGTAAATACC -3'
(R):5'- TCATAGGCTACACTGAGCAGAC -3'

Sequencing Primer
(F):5'- GTGTGCTCGTTTGTAAATACCTTAAG -3'
(R):5'- CTTTGCAATGCCTCTAGG -3'
Posted On 2015-02-18