Incidental Mutation 'R1067:Adam24'
ID 86050
Institutional Source Beutler Lab
Gene Symbol Adam24
Ensembl Gene ENSMUSG00000046723
Gene Name ADAM metallopeptidase domain 24
Synonyms Dtgn5
MMRRC Submission 039153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R1067 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41128118-41135238 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 41133793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 420 (C420*)
Ref Sequence ENSEMBL: ENSMUSP00000050727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051614]
AlphaFold Q9R160
Predicted Effect probably null
Transcript: ENSMUST00000051614
AA Change: C420*
SMART Domains Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: C420*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,957,018 (GRCm39) probably benign Het
Atp12a G A 14: 56,610,893 (GRCm39) G346S probably damaging Het
Bpifa3 A T 2: 153,979,529 (GRCm39) Q218L probably damaging Het
Cntrl T C 2: 35,039,034 (GRCm39) probably benign Het
Defb41 A G 1: 18,335,248 (GRCm39) probably null Het
Edc4 C A 8: 106,617,637 (GRCm39) T1094K probably damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
G3bp2 A T 5: 92,211,187 (GRCm39) probably benign Het
Herc6 T A 6: 57,639,204 (GRCm39) N888K probably damaging Het
Iqgap1 G A 7: 80,373,576 (GRCm39) T1471M probably benign Het
Kpna6 G T 4: 129,541,896 (GRCm39) H500Q probably benign Het
Krt78 G A 15: 101,854,896 (GRCm39) Q972* probably null Het
Krtap9-5 T A 11: 99,839,589 (GRCm39) C97S unknown Het
Mapk10 T A 5: 103,139,723 (GRCm39) probably benign Het
Mybphl A G 3: 108,272,319 (GRCm39) T3A probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Oca2 A G 7: 55,966,141 (GRCm39) I378V probably damaging Het
Or7a39 T A 10: 78,715,517 (GRCm39) C170* probably null Het
Pax6 C A 2: 105,510,646 (GRCm39) Q2K probably benign Het
Plxna2 C A 1: 194,462,818 (GRCm39) probably null Het
Ppp1r13b A G 12: 111,801,550 (GRCm39) L378P probably damaging Het
Prkdc G A 16: 15,570,646 (GRCm39) E2310K probably damaging Het
Pth2r G A 1: 65,411,507 (GRCm39) G348E possibly damaging Het
Rarb T C 14: 16,436,769 (GRCm38) I251V probably damaging Het
Rasa2 A G 9: 96,434,376 (GRCm39) L637P probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Syt1 A T 10: 108,472,523 (GRCm39) D120E probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmbim1 A G 1: 74,329,905 (GRCm39) probably benign Het
Tnfrsf25 G A 4: 152,202,745 (GRCm39) C191Y probably damaging Het
Tnn T C 1: 159,952,968 (GRCm39) K691E probably damaging Het
Trim7 T A 11: 48,728,646 (GRCm39) V98E probably damaging Het
Tspan3 A G 9: 56,068,104 (GRCm39) F15L probably benign Het
Uap1l1 A G 2: 25,252,759 (GRCm39) L427S probably damaging Het
Upf1 A C 8: 70,791,053 (GRCm39) M574R probably damaging Het
Ush2a T A 1: 188,282,404 (GRCm39) V1931E probably benign Het
Zfp3 T C 11: 70,663,411 (GRCm39) S457P probably damaging 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
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
R3551:Adam24 UTSW 8 41,132,632 (GRCm39) missense probably benign 0.03
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'- TGCCAGCATTTTGTACGTGGAAGG -3'
(R):5'- GAAGGTCACATTCATTCTCCCGAGC -3'

Sequencing Primer
(F):5'- CCATTGGACATATTGTGGCAC -3'
(R):5'- GCTCTACACAGAGTGCCAGATG -3'
Posted On 2013-11-18