Incidental Mutation 'R2265:Adam24'
ID 244081
Institutional Source Beutler Lab
Gene Symbol Adam24
Ensembl Gene ENSMUSG00000046723
Gene Name ADAM metallopeptidase domain 24
Synonyms Dtgn5
MMRRC Submission 040265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R2265 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 41128118-41135238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41133110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 193 (S193T)
Ref Sequence ENSEMBL: ENSMUSP00000050727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051614]
AlphaFold Q9R160
Predicted Effect possibly damaging
Transcript: ENSMUST00000051614
AA Change: S193T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: S193T

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: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 12,042,328 (GRCm39) probably null Het
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Adra2b T C 2: 127,205,791 (GRCm39) S103P probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Alg11 T A 8: 22,555,630 (GRCm39) V255E probably benign Het
Aox1 C A 1: 58,120,679 (GRCm39) D857E probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bdkrb2 A G 12: 105,558,484 (GRCm39) T242A probably benign Het
Cdca7 T C 2: 72,312,834 (GRCm39) L190P probably benign Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Cep41 T A 6: 30,660,915 (GRCm39) I126F possibly damaging Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Cops3 T C 11: 59,718,716 (GRCm39) T193A probably benign Het
Dbr1 G A 9: 99,461,463 (GRCm39) V153M probably damaging Het
Ddx4 A G 13: 112,757,810 (GRCm39) Y290H probably benign Het
Dgkb T A 12: 38,240,107 (GRCm39) S461R possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Exosc1 A G 19: 41,919,857 (GRCm39) S54P probably damaging Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxo1 T C 3: 52,253,333 (GRCm39) S499P probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hspa2 T G 12: 76,452,962 (GRCm39) I552S probably benign Het
Imp4 T A 1: 34,482,928 (GRCm39) I173N probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Kcnh6 G A 11: 105,924,643 (GRCm39) R816Q probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnip3 G T 2: 127,306,981 (GRCm39) A173D probably benign Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lilrb4a T A 10: 51,367,633 (GRCm39) Y58* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 T C 4: 106,578,124 (GRCm39) N185D probably benign Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Mycbp2 T C 14: 103,500,185 (GRCm39) D937G probably benign Het
Myo18b A G 5: 112,930,539 (GRCm39) M1799T probably damaging Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or2m12 A G 16: 19,105,305 (GRCm39) Y63H probably damaging Het
Or4f54 A G 2: 111,123,524 (GRCm39) T304A probably benign Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Or52n20 T C 7: 104,320,067 (GRCm39) F53L probably benign Het
Or8k28 T C 2: 86,286,558 (GRCm39) Y19C possibly damaging Het
Ovch2 A T 7: 107,383,782 (GRCm39) M521K probably damaging Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Pcdhb19 A T 18: 37,630,736 (GRCm39) H177L probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Pjvk T G 2: 76,487,797 (GRCm39) S230A possibly damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Rad9b T C 5: 122,489,405 (GRCm39) Y41C probably damaging Het
Ranbp3l A T 15: 9,057,194 (GRCm39) I286F probably damaging Het
Rtel1 T A 2: 180,996,161 (GRCm39) V739D probably damaging Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spg11 A T 2: 121,938,788 (GRCm39) C389S possibly damaging Het
Srsf4 T C 4: 131,624,993 (GRCm39) V130A probably damaging Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tas2r117 T A 6: 132,780,188 (GRCm39) C109S probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Ttc21a G T 9: 119,788,074 (GRCm39) C833F possibly damaging Het
Vash2 T C 1: 190,682,410 (GRCm39) N347D probably damaging Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Zfp616 T C 11: 73,976,289 (GRCm39) Y853H possibly 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
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
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'- ATGGCTGCTCTTACCACCTG -3'
(R):5'- TCCATTAGTCCAGATAGTAAGTCCAAG -3'

Sequencing Primer
(F):5'- TGGGGGCTTTCAAGGAATATTACAG -3'
(R):5'- GTCCAGATAGTAAGTCCAAGTAAAAC -3'
Posted On 2014-10-16