Incidental Mutation 'R3551:Adam24'
ID 268343
Institutional Source Beutler Lab
Gene Symbol Adam24
Ensembl Gene ENSMUSG00000046723
Gene Name ADAM metallopeptidase domain 24
Synonyms Dtgn5
MMRRC Submission 040668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R3551 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 41128118-41135238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 41132632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 33 (W33C)
Ref Sequence ENSEMBL: ENSMUSP00000050727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051614]
AlphaFold Q9R160
Predicted Effect probably benign
Transcript: ENSMUST00000051614
AA Change: W33C

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: W33C

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 160 3.3e-14 PFAM
Pfam:Reprolysin_2 193 389 6.3e-13 PFAM
Pfam:Reprolysin 208 398 7.8e-43 PFAM
Pfam:Reprolysin_5 209 382 3e-17 PFAM
Pfam:Reprolysin_4 209 392 4.9e-13 PFAM
Pfam:Reprolysin_3 232 353 9.9e-16 PFAM
DISIN 415 491 7.13e-39 SMART
ACR 492 628 7.74e-69 SMART
transmembrane domain 698 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210267
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Male mice lacking the encoded protein exhibit reduced fertility due to the higher incidence of polyspermic embryos. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile and produce an increased number of polyspermic embryos at the pronuclear stage. Female homozygotes show normal fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Adgrl2 A T 3: 148,564,599 (GRCm39) V327E probably damaging Het
Aqp7 T A 4: 41,045,329 (GRCm39) N17I probably benign Het
Bicra T A 7: 15,713,658 (GRCm39) Q848L probably benign Het
C4b T C 17: 34,960,846 (GRCm39) E240G possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Clca3a2 T A 3: 144,508,842 (GRCm39) N50I probably damaging Het
Dcaf7 A G 11: 105,945,622 (GRCm39) T324A probably benign Het
Dnah12 G A 14: 26,492,929 (GRCm39) R1230H probably benign Het
Dsg4 G A 18: 20,584,813 (GRCm39) V176M probably damaging Het
Ect2l A G 10: 18,039,141 (GRCm39) I339T probably damaging Het
Edc4 A T 8: 106,612,126 (GRCm39) I138F probably damaging Het
Ercc6l2 T A 13: 63,992,409 (GRCm39) V401E probably damaging Het
Gm3269 T A 14: 16,033,003 (GRCm39) V260D possibly damaging Het
Gm4076 C T 13: 85,275,269 (GRCm39) noncoding transcript Het
Gm4922 A T 10: 18,660,244 (GRCm39) N159K probably benign Het
Gm5134 G T 10: 75,836,281 (GRCm39) A421S probably benign Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Ipo4 A G 14: 55,870,560 (GRCm39) V288A probably benign Het
Kng2 A G 16: 22,830,745 (GRCm39) probably null Het
Lrfn1 T C 7: 28,159,479 (GRCm39) L466P possibly damaging Het
Magi1 T A 6: 93,676,610 (GRCm39) K916N probably damaging Het
Mms19 T C 19: 41,938,237 (GRCm39) T720A probably benign Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Npas2 A T 1: 39,326,643 (GRCm39) M43L probably benign Het
Nup43 A G 10: 7,550,778 (GRCm39) D216G possibly damaging Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Pear1 A G 3: 87,665,439 (GRCm39) F145L probably benign Het
Pgap1 A G 1: 54,569,302 (GRCm39) S355P possibly damaging Het
Prr14l A T 5: 32,985,963 (GRCm39) probably null Het
Ptpn12 T C 5: 21,194,047 (GRCm39) K742E possibly damaging Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Sema4c G C 1: 36,592,804 (GRCm39) T138S probably benign Het
Slc4a2 C T 5: 24,635,099 (GRCm39) T168M probably benign Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spice1 G T 16: 44,178,232 (GRCm39) S85I probably damaging Het
Thrb T A 14: 17,963,214 (GRCm38) I59N probably damaging Het
Trav7-1 A G 14: 52,892,756 (GRCm39) D103G probably damaging Het
Ubap2l G T 3: 89,922,758 (GRCm39) T766N unknown Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp759 T C 13: 67,287,031 (GRCm39) V194A probably benign Het
Other mutations in Adam24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Adam24 APN 8 41,132,571 (GRCm39) missense probably benign 0.41
IGL02517:Adam24 APN 8 41,133,218 (GRCm39) missense probably damaging 1.00
R0195:Adam24 UTSW 8 41,134,805 (GRCm39) missense probably benign 0.00
R1067:Adam24 UTSW 8 41,133,793 (GRCm39) nonsense probably null
R1180:Adam24 UTSW 8 41,134,467 (GRCm39) missense probably damaging 1.00
R1438:Adam24 UTSW 8 41,134,431 (GRCm39) missense probably benign 0.19
R1741:Adam24 UTSW 8 41,132,642 (GRCm39) missense probably benign 0.00
R1779:Adam24 UTSW 8 41,134,004 (GRCm39) missense possibly damaging 0.83
R1940:Adam24 UTSW 8 41,134,400 (GRCm39) nonsense probably null
R2228:Adam24 UTSW 8 41,133,404 (GRCm39) missense probably benign 0.00
R2229:Adam24 UTSW 8 41,133,404 (GRCm39) missense probably benign 0.00
R2265:Adam24 UTSW 8 41,133,110 (GRCm39) missense possibly damaging 0.95
R2359:Adam24 UTSW 8 41,133,984 (GRCm39) missense possibly damaging 0.91
R3837:Adam24 UTSW 8 41,133,584 (GRCm39) missense probably benign
R4834:Adam24 UTSW 8 41,132,738 (GRCm39) missense probably damaging 1.00
R5121:Adam24 UTSW 8 41,132,550 (GRCm39) missense probably damaging 1.00
R5410:Adam24 UTSW 8 41,134,103 (GRCm39) missense probably benign 0.01
R5787:Adam24 UTSW 8 41,133,941 (GRCm39) missense possibly damaging 0.87
R5900:Adam24 UTSW 8 41,134,071 (GRCm39) missense probably benign 0.00
R6600:Adam24 UTSW 8 41,133,587 (GRCm39) missense probably damaging 1.00
R6633:Adam24 UTSW 8 41,133,526 (GRCm39) missense probably benign 0.12
R6672:Adam24 UTSW 8 41,134,572 (GRCm39) missense probably benign 0.01
R6904:Adam24 UTSW 8 41,134,542 (GRCm39) missense probably damaging 1.00
R7178:Adam24 UTSW 8 41,133,039 (GRCm39) nonsense probably null
R7542:Adam24 UTSW 8 41,133,848 (GRCm39) missense possibly damaging 0.46
R7578:Adam24 UTSW 8 41,133,294 (GRCm39) missense probably benign 0.01
R7708:Adam24 UTSW 8 41,133,558 (GRCm39) missense probably damaging 1.00
R8739:Adam24 UTSW 8 41,133,480 (GRCm39) missense possibly damaging 0.68
R8823:Adam24 UTSW 8 41,133,228 (GRCm39) missense probably benign 0.01
R9282:Adam24 UTSW 8 41,133,674 (GRCm39) missense probably damaging 1.00
R9434:Adam24 UTSW 8 41,133,284 (GRCm39) missense probably benign 0.04
R9508:Adam24 UTSW 8 41,132,941 (GRCm39) missense probably benign 0.28
R9591:Adam24 UTSW 8 41,132,698 (GRCm39) missense probably benign 0.00
X0010:Adam24 UTSW 8 41,133,054 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTATTAACGGTCAGTGCTGC -3'
(R):5'- CTCAAAGAGGACACCTTGGTC -3'

Sequencing Primer
(F):5'- TCAGTGCTGCATGGGATTAAGAC -3'
(R):5'- GACACCTTGGTCATTGTATGTGAAC -3'
Posted On 2015-02-19