Incidental Mutation 'R7151:Adam3'
ID 554135
Institutional Source Beutler Lab
Gene Symbol Adam3
Ensembl Gene ENSMUSG00000031553
Gene Name ADAM metallopeptidase domain 3
Synonyms Taz83, tMDC, Taz83, Cyrn1, ADAM3
MMRRC Submission 045253-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7151 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 25167241-25215868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25185271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 476 (C476S)
Ref Sequence ENSEMBL: ENSMUSP00000033958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033958] [ENSMUST00000170318] [ENSMUST00000171438]
AlphaFold F8VQ03
Predicted Effect probably damaging
Transcript: ENSMUST00000033958
AA Change: C476S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: C476S

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: 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 probably damaging
Transcript: ENSMUST00000171438
AA Change: C476S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: C476S

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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T A 2: 32,630,618 (GRCm39) Q52L unknown Het
Acsl1 A G 8: 46,966,634 (GRCm39) D202G probably damaging Het
Adam34 T A 8: 44,104,499 (GRCm39) E382V probably benign Het
Akap5 G A 12: 76,375,023 (GRCm39) V152I probably benign Het
Aldh5a1 C T 13: 25,121,382 (GRCm39) W57* probably null Het
Angptl2 C T 2: 33,133,922 (GRCm39) Q415* probably null Het
Bnc1 G T 7: 81,623,055 (GRCm39) T724N possibly damaging Het
Brca2 T C 5: 150,464,901 (GRCm39) V1555A probably benign Het
Btn1a1 T A 13: 23,643,483 (GRCm39) D322V probably damaging Het
Chsy3 T A 18: 59,542,357 (GRCm39) D498E possibly damaging Het
Ddx24 T C 12: 103,390,347 (GRCm39) T215A probably benign Het
Dhx57 A T 17: 80,580,476 (GRCm39) V492E probably damaging Het
Dnhd1 G A 7: 105,359,234 (GRCm39) R3523Q probably benign Het
Dock3 T A 9: 106,841,916 (GRCm39) D971V possibly damaging Het
Ercc8 T C 13: 108,323,816 (GRCm39) probably null Het
Erich5 T A 15: 34,471,095 (GRCm39) L108Q probably damaging Het
F5 A T 1: 164,029,230 (GRCm39) Y1743F probably damaging Het
Gale T C 4: 135,694,503 (GRCm39) V243A probably damaging Het
Gspt1 T A 16: 11,071,692 (GRCm39) Q57L probably benign Het
Gtf3a C A 5: 146,888,085 (GRCm39) Q129K probably benign Het
Heyl T C 4: 123,140,254 (GRCm39) V271A probably benign Het
Hsd17b4 T C 18: 50,261,437 (GRCm39) F7L probably damaging Het
Hspa12a T C 19: 58,810,594 (GRCm39) T150A probably benign Het
Ift140 T A 17: 25,274,699 (GRCm39) D790E probably damaging Het
Igkv4-69 T A 6: 69,260,917 (GRCm39) Y70F probably damaging Het
Il1rap T C 16: 26,530,878 (GRCm39) Y405H probably damaging Het
Insyn2a A C 7: 134,520,374 (GRCm39) I52S probably damaging Het
Irf2bpl G T 12: 86,930,127 (GRCm39) P182Q probably benign Het
Itm2b C A 14: 73,605,829 (GRCm39) probably benign Het
Kcnc2 T C 10: 112,294,414 (GRCm39) V106A possibly damaging Het
Krt87 C A 15: 101,387,529 (GRCm39) D170Y probably damaging Het
Lca5 T A 9: 83,280,693 (GRCm39) Y369F probably benign Het
Mgat5 T A 1: 127,373,999 (GRCm39) D466E probably damaging Het
Mier3 C T 13: 111,851,302 (GRCm39) P428L probably benign Het
Myo6 T C 9: 80,152,418 (GRCm39) Y167H unknown Het
Neu2 A G 1: 87,524,297 (GRCm39) E94G probably benign Het
Nlrp9a A T 7: 26,256,672 (GRCm39) K97* probably null Het
Npdc1 A G 2: 25,299,120 (GRCm39) M306V probably damaging Het
Odf2l A T 3: 144,832,827 (GRCm39) N95I probably benign Het
Or10j3 A G 1: 173,031,633 (GRCm39) K237E probably damaging Het
Or13d1 G T 4: 52,970,665 (GRCm39) V15L probably benign Het
Or5t16 A G 2: 86,819,385 (GRCm39) V45A probably benign Het
Or7g21 A G 9: 19,033,037 (GRCm39) Y259C possibly damaging Het
P2ry12 A G 3: 59,125,127 (GRCm39) F183L probably benign Het
Proser3 A G 7: 30,239,749 (GRCm39) F452L possibly damaging Het
Ptgfrn G T 3: 100,987,511 (GRCm39) Y117* probably null Het
Rab3gap2 G T 1: 184,980,250 (GRCm39) V360F probably benign Het
Rp1l1 A T 14: 64,266,475 (GRCm39) D687V possibly damaging Het
Rxfp2 T G 5: 149,966,572 (GRCm39) N103K probably benign Het
Scfd2 T A 5: 74,558,326 (GRCm39) Q517L possibly damaging Het
Scnn1b G A 7: 121,517,109 (GRCm39) A582T probably damaging Het
Serpinb6e T C 13: 34,021,818 (GRCm39) E170G probably damaging Het
Serpinb8 T A 1: 107,533,527 (GRCm39) V194E probably damaging Het
Sgcz T A 8: 38,006,833 (GRCm39) H191L possibly damaging Het
Sirt1 A T 10: 63,159,775 (GRCm39) L435Q probably damaging Het
Sorcs1 G A 19: 50,301,420 (GRCm39) P315S probably damaging Het
Spdef T A 17: 27,939,134 (GRCm39) S71C possibly damaging Het
Spta1 T A 1: 174,025,317 (GRCm39) H727Q probably damaging Het
Srsf1 C T 11: 87,940,084 (GRCm39) Q199* probably null Het
Stard9 A T 2: 120,526,623 (GRCm39) D960V probably benign Het
Tcp10c A T 17: 13,576,166 (GRCm39) I49F possibly damaging Het
Tgm2 T C 2: 157,971,315 (GRCm39) N308S possibly damaging Het
Tiam2 A G 17: 3,498,660 (GRCm39) D812G probably benign Het
Tph1 A T 7: 46,311,541 (GRCm39) V67D possibly damaging Het
Trps1 C T 15: 50,685,793 (GRCm39) R794H possibly damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn2r92 A T 17: 18,387,005 (GRCm39) T115S probably benign Het
Wdr11 A G 7: 129,208,376 (GRCm39) D377G probably damaging Het
Wdr55 G T 18: 36,895,989 (GRCm39) A251S possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfp109 A T 7: 23,929,231 (GRCm39) H67Q probably benign Het
Zfp462 G A 4: 55,051,271 (GRCm39) C2248Y probably damaging Het
Zyg11b T C 4: 108,102,119 (GRCm39) H534R possibly damaging 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
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
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'- ATGGCCTTGGTCTTGACTTATATCC -3'
(R):5'- CAACAAACTTTGTCCCTGTGTTG -3'

Sequencing Primer
(F):5'- GGTCTTGACTTATATCCTATATGGCC -3'
(R):5'- GGACGCCTATGCAGAAAA -3'
Posted On 2019-05-15