Incidental Mutation 'IGL02517:Adam24'
ID 296843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam24
Ensembl Gene ENSMUSG00000046723
Gene Name ADAM metallopeptidase domain 24
Synonyms Dtgn5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL02517
Quality Score
Status
Chromosome 8
Chromosomal Location 41128118-41135238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41133218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 229 (S229P)
Ref Sequence ENSEMBL: ENSMUSP00000050727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051614]
AlphaFold Q9R160
Predicted Effect probably damaging
Transcript: ENSMUST00000051614
AA Change: S229P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: S229P

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T G 4: 49,380,647 (GRCm39) M244L possibly damaging Het
Acnat2 A T 4: 49,380,639 (GRCm39) C228* probably null Het
Alpk3 T C 7: 80,727,643 (GRCm39) S258P probably benign Het
Atad2b A G 12: 5,068,037 (GRCm39) T1012A probably benign Het
Bltp1 A G 3: 37,013,017 (GRCm39) E1899G probably damaging Het
C4b A T 17: 34,953,382 (GRCm39) S1034T probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Chrna4 C T 2: 180,670,926 (GRCm39) V277I probably benign Het
Col3a1 A G 1: 45,364,963 (GRCm39) probably null Het
Dpep2 C T 8: 106,715,388 (GRCm39) V369M probably damaging Het
Eml2 T A 7: 18,940,055 (GRCm39) N815K probably damaging Het
Enpp3 A G 10: 24,685,746 (GRCm39) probably benign Het
Git1 T C 11: 77,390,413 (GRCm39) V86A probably benign Het
Hivep2 C T 10: 14,006,926 (GRCm39) P1175S probably benign Het
Hydin T C 8: 111,293,604 (GRCm39) I3517T probably benign Het
Ift172 T A 5: 31,410,992 (GRCm39) probably null Het
Jmy A G 13: 93,589,316 (GRCm39) I647T probably benign Het
Kifap3 T A 1: 163,653,440 (GRCm39) probably benign Het
Lama3 G A 18: 12,670,915 (GRCm39) probably null Het
Lipa A C 19: 34,471,522 (GRCm39) I351S possibly damaging Het
Ltbp2 G T 12: 84,832,091 (GRCm39) A1631D probably benign Het
Masp2 A G 4: 148,698,477 (GRCm39) I519M probably damaging Het
Mfsd6 A G 1: 52,702,436 (GRCm39) probably benign Het
Numa1 T G 7: 101,661,216 (GRCm39) D1846E probably benign Het
Oog3 A T 4: 143,885,920 (GRCm39) I226K probably damaging Het
Or11h6 A G 14: 50,880,658 (GRCm39) T301A probably benign Het
Or5an6 A T 19: 12,372,265 (GRCm39) I213F probably benign Het
Or8b3b T C 9: 38,584,209 (GRCm39) Y177C probably damaging Het
Or8g53 T G 9: 39,683,800 (GRCm39) T99P probably damaging Het
Or9s13 A T 1: 92,548,183 (GRCm39) Y185F probably benign Het
Pkdcc T C 17: 83,531,295 (GRCm39) S435P probably damaging Het
Ppm1g A G 5: 31,365,425 (GRCm39) Y70H probably damaging Het
Prcc C T 3: 87,776,984 (GRCm39) S330N probably damaging Het
Ror2 A T 13: 53,272,876 (GRCm39) L251Q probably damaging Het
Scn11a A G 9: 119,621,464 (GRCm39) L651P probably damaging Het
Skint6 A T 4: 112,805,737 (GRCm39) probably benign Het
Slc23a4 A G 6: 34,931,917 (GRCm39) F186L probably benign Het
Slc30a8 A T 15: 52,198,530 (GRCm39) D325V probably benign Het
Son C T 16: 91,452,099 (GRCm39) T282M possibly damaging Het
Tas2r118 A T 6: 23,969,891 (GRCm39) F57I probably damaging Het
Tcf7l1 A G 6: 72,606,966 (GRCm39) S447P probably benign Het
Thsd1 T A 8: 22,733,454 (GRCm39) V167E probably damaging Het
Tle3 T C 9: 61,322,063 (GRCm39) V696A probably damaging Het
Tmem67 A T 4: 12,069,463 (GRCm39) I405K possibly damaging Het
Tmem71 A C 15: 66,413,466 (GRCm39) V202G probably benign Het
Trim6 T C 7: 103,881,564 (GRCm39) probably benign Het
Trip12 A G 1: 84,721,535 (GRCm39) probably benign Het
Ubr1 A C 2: 120,694,854 (GRCm39) C1693G possibly damaging Het
Ush2a G A 1: 188,648,195 (GRCm39) R4600H probably damaging Het
Vil1 A G 1: 74,465,851 (GRCm39) I547M probably benign Het
Vmn1r219 A T 13: 23,347,266 (GRCm39) I152L probably benign Het
Vmn1r26 A G 6: 57,986,127 (GRCm39) F21L possibly damaging Het
Vmn2r45 T A 7: 8,486,185 (GRCm39) K368* probably null Het
Vmn2r68 C T 7: 84,871,153 (GRCm39) W710* probably null Het
Zfp808 T A 13: 62,321,032 (GRCm39) *754R probably null Het
Zyg11b C T 4: 108,123,515 (GRCm39) E151K probably damaging Het
Other mutations in Adam24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Adam24 APN 8 41,132,571 (GRCm39) missense probably benign 0.41
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
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
Posted On 2015-04-16