Incidental Mutation 'R1599:Adam3'
ID 176036
Institutional Source Beutler Lab
Gene Symbol Adam3
Ensembl Gene ENSMUSG00000031553
Gene Name ADAM metallopeptidase domain 3
Synonyms Taz83, tMDC, Taz83, Cyrn1, ADAM3
MMRRC Submission 039636-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1599 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 25167241-25215868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25215377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 20 (D20G)
Ref Sequence ENSEMBL: ENSMUSP00000132620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033958] [ENSMUST00000050300] [ENSMUST00000167703] [ENSMUST00000171438] [ENSMUST00000170318] [ENSMUST00000171611] [ENSMUST00000169598]
AlphaFold F8VQ03
Predicted Effect probably benign
Transcript: ENSMUST00000033958
AA Change: D20G

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: D20G

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 probably benign
Transcript: ENSMUST00000050300
SMART Domains Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Pep_M12B_propep 16 142 1.6e-19 PFAM
Pfam:Reprolysin 185 378 7.7e-59 PFAM
DISIN 397 474 9.1e-42 SMART
ACR 475 618 6.9e-58 SMART
transmembrane domain 695 712 N/A INTRINSIC
low complexity region 718 751 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130939
Predicted Effect probably benign
Transcript: ENSMUST00000132180
SMART Domains Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 1 60 6.7e-14 PFAM
Pfam:Reprolysin 103 296 2.5e-61 PFAM
DISIN 315 392 1.78e-39 SMART
ACR 393 536 2.06e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166986
Predicted Effect probably benign
Transcript: ENSMUST00000167703
AA Change: D20G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132634
Gene: ENSMUSG00000031553
AA Change: D20G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168662
Predicted Effect probably benign
Transcript: ENSMUST00000171438
AA Change: D20G

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: D20G

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000170318
AA Change: D20G

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132620
Gene: ENSMUSG00000031553
AA Change: D20G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 118 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171611
AA Change: D20G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126617
Gene: ENSMUSG00000031553
AA Change: D20G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 144 2.5e-30 PFAM
Pfam:Reprolysin_5 185 352 6.5e-9 PFAM
Pfam:Reprolysin 187 352 2.1e-54 PFAM
Pfam:Reprolysin_3 211 335 7.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169598
AA Change: D20G

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130818
Gene: ENSMUSG00000031553
AA Change: D20G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 90 3.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170740
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,197,033 (GRCm39) E202G probably damaging Het
Adam23 A G 1: 63,610,092 (GRCm39) D698G possibly damaging Het
Adamts12 T C 15: 11,071,797 (GRCm39) S114P probably damaging Het
Adgrg6 T A 10: 14,343,057 (GRCm39) R297* probably null Het
Ahdc1 A T 4: 132,792,247 (GRCm39) S1163C possibly damaging Het
Axl A G 7: 25,463,394 (GRCm39) Y619H probably damaging Het
Bcl11a G T 11: 24,113,887 (GRCm39) C410F probably damaging Het
Brca2 C A 5: 150,472,178 (GRCm39) S2359* probably null Het
Calca A G 7: 114,233,707 (GRCm39) S75P probably damaging Het
Ccn2 A T 10: 24,473,297 (GRCm39) R279W probably benign Het
Ccpg1 T A 9: 72,906,407 (GRCm39) Y54* probably null Het
Cfap161 A T 7: 83,425,287 (GRCm39) M268K possibly damaging Het
Cfap61 T A 2: 145,854,083 (GRCm39) V365E probably benign Het
Cgnl1 T C 9: 71,548,709 (GRCm39) I1000V probably benign Het
Chd2 A T 7: 73,122,799 (GRCm39) D978E probably benign Het
Cyth1 G A 11: 118,068,047 (GRCm39) T297M probably damaging Het
Dennd1b T G 1: 139,095,468 (GRCm39) D505E probably benign Het
Dgkd A G 1: 87,809,608 (GRCm39) T99A possibly damaging Het
Fam161a A T 11: 22,971,093 (GRCm39) M180L probably benign Het
Gar1 G T 3: 129,624,253 (GRCm39) R80S probably benign Het
Gm28042 T C 2: 119,866,944 (GRCm39) S419P probably benign Het
Gm5591 A C 7: 38,219,794 (GRCm39) C360G probably benign Het
Golga2 A G 2: 32,193,185 (GRCm39) H427R probably benign Het
Gpt2 A G 8: 86,238,863 (GRCm39) Y232C probably damaging Het
Hnrnpll T A 17: 80,361,054 (GRCm39) H118L unknown Het
Ice2 T A 9: 69,318,724 (GRCm39) C303S probably null Het
Ikzf3 C A 11: 98,357,919 (GRCm39) G473C probably damaging Het
Kansl3 A T 1: 36,406,951 (GRCm39) D38E probably damaging Het
Kcna6 A T 6: 126,716,282 (GRCm39) D202E probably benign Het
Klhl21 G A 4: 152,096,757 (GRCm39) G341D probably damaging Het
Klhl29 A T 12: 5,143,538 (GRCm39) V497D probably damaging Het
Kmt2b G A 7: 30,270,000 (GRCm39) L2449F probably damaging Het
Kmt5c A G 7: 4,744,899 (GRCm39) E10G probably damaging Het
Lama3 C T 18: 12,583,457 (GRCm39) Q682* probably null Het
Lamb3 T C 1: 193,002,801 (GRCm39) V82A probably damaging Het
Larp4b C T 13: 9,172,186 (GRCm39) T2I probably damaging Het
Man2a1 T C 17: 64,986,826 (GRCm39) Y613H possibly damaging Het
Mcm3 G A 1: 20,890,422 (GRCm39) T4I probably benign Het
Mki67 C T 7: 135,301,663 (GRCm39) A1124T probably benign Het
Mlh3 A T 12: 85,315,143 (GRCm39) L348I probably damaging Het
Mmrn1 G A 6: 60,922,021 (GRCm39) M159I probably benign Het
Muc5ac A T 7: 141,352,640 (GRCm39) Q709L possibly damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nosip A G 7: 44,723,430 (GRCm39) N32S probably benign Het
Npat T C 9: 53,473,704 (GRCm39) Y499H possibly damaging Het
Nt5c1b T A 12: 10,440,024 (GRCm39) I522N probably damaging Het
Or1j18 G T 2: 36,625,001 (GRCm39) V223F probably benign Het
Or2r3 T A 6: 42,448,176 (GRCm39) K312M probably damaging Het
Or52d3 A G 7: 104,228,855 (GRCm39) M1V probably null Het
Or7g32 T A 9: 19,389,517 (GRCm39) T7S probably damaging Het
Pappa2 A G 1: 158,684,742 (GRCm39) F799S probably damaging Het
Pate5 T C 9: 35,750,333 (GRCm39) N113S probably benign Het
Pcdha1 C T 18: 37,318,290 (GRCm39) T941M probably damaging Het
Pilrb2 A T 5: 137,866,859 (GRCm39) F215I possibly damaging Het
Pkd1l3 G T 8: 110,363,016 (GRCm39) M1092I probably benign Het
Ppp1r21 G T 17: 88,880,055 (GRCm39) V491L probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prr27 G T 5: 87,991,084 (GRCm39) R232L probably benign Het
Rab3gap2 C T 1: 184,983,223 (GRCm39) T454I probably benign Het
Rgs11 C A 17: 26,427,223 (GRCm39) H385N probably damaging Het
S1pr5 T A 9: 21,155,230 (GRCm39) T399S probably benign Het
Sacs G A 14: 61,441,087 (GRCm39) M1044I probably benign Het
Sec31b T A 19: 44,511,592 (GRCm39) Q603L possibly damaging Het
Setx G A 2: 29,030,385 (GRCm39) E275K probably benign Het
Sh3tc1 G A 5: 35,864,856 (GRCm39) P444S probably benign Het
Shoc1 A T 4: 59,072,349 (GRCm39) N622K possibly damaging Het
Strn3 T A 12: 51,699,549 (GRCm39) N208Y possibly damaging Het
Tmem87a T C 2: 120,224,868 (GRCm39) N131S probably damaging Het
Tmprss13 T A 9: 45,249,616 (GRCm39) W318R probably damaging Het
Trabd2b T C 4: 114,266,178 (GRCm39) V64A probably damaging Het
Trafd1 A T 5: 121,517,720 (GRCm39) N24K probably damaging Het
Ttc41 T C 10: 86,612,437 (GRCm39) S1237P probably benign Het
Ttll1 A G 15: 83,381,555 (GRCm39) V238A probably benign Het
Vps50 T C 6: 3,565,537 (GRCm39) S492P probably benign Het
Zic1 T C 9: 91,243,741 (GRCm39) I409V 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
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
R3441: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'- AGAAAACCGAGACCTTTGCCCTG -3'
(R):5'- AAGATCGTTGACCCTCCTTTGCTG -3'

Sequencing Primer
(F):5'- TGCCTCAGATCAACAATCTTTATCAC -3'
(R):5'- CCTTTGCTGAGAACATCTGTAAAGTG -3'
Posted On 2014-04-24