Incidental Mutation 'R9434:Adam24'
ID 713174
Institutional Source Beutler Lab
Gene Symbol Adam24
Ensembl Gene ENSMUSG00000046723
Gene Name ADAM metallopeptidase domain 24
Synonyms Dtgn5
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R9434 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 41128118-41135238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41133284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 251 (I251V)
Ref Sequence ENSEMBL: ENSMUSP00000050727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051614]
AlphaFold Q9R160
Predicted Effect probably benign
Transcript: ENSMUST00000051614
AA Change: I251V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: I251V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,666,292 (GRCm39) probably benign Het
Adipoq A G 16: 22,965,697 (GRCm39) probably benign Het
Adnp C T 2: 168,026,377 (GRCm39) R306Q probably damaging Het
Akap11 A T 14: 78,747,829 (GRCm39) N1519K Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
Cdc14a T C 3: 116,217,092 (GRCm39) M15V probably benign Het
Cgn T C 3: 94,672,837 (GRCm39) D947G probably damaging Het
Crhr2 A T 6: 55,069,512 (GRCm39) F381I probably damaging Het
Dmxl1 G T 18: 50,010,788 (GRCm39) A982S probably damaging Het
Efcab3 T C 11: 104,899,863 (GRCm39) V4375A probably benign Het
Epha5 T C 5: 84,479,227 (GRCm39) E259G possibly damaging Het
Erbb4 T C 1: 68,081,773 (GRCm39) D1087G possibly damaging Het
Fcgr2b A T 1: 170,793,385 (GRCm39) S215T probably benign Het
Fsip2 A T 2: 82,816,702 (GRCm39) Y4145F possibly damaging Het
Fyb2 C T 4: 104,847,534 (GRCm39) T518M probably damaging Het
Galk1 C T 11: 115,903,494 (GRCm39) W4* probably null Het
Gmds C A 13: 32,284,369 (GRCm39) D248Y probably damaging Het
Herc3 T A 6: 58,853,846 (GRCm39) F631I probably benign Het
Hhla1 T C 15: 65,839,226 (GRCm39) K55E possibly damaging Het
Il17rb T C 14: 29,728,054 (GRCm39) E51G probably damaging Het
Ildr1 T A 16: 36,529,862 (GRCm39) L83Q probably damaging Het
Ints9 A G 14: 65,245,506 (GRCm39) I255V probably benign Het
Itga9 G T 9: 118,636,315 (GRCm39) D668Y probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Klhl35 A G 7: 99,119,547 (GRCm39) Y344C probably damaging Het
Klra4 A G 6: 130,040,083 (GRCm39) V63A possibly damaging Het
Lgr4 A G 2: 109,836,907 (GRCm39) T414A probably benign Het
Lmbrd2 C T 15: 9,157,314 (GRCm39) T184M probably benign Het
Lrp1 T C 10: 127,381,689 (GRCm39) D3795G possibly damaging Het
N6amt1 T A 16: 87,159,421 (GRCm39) L109Q possibly damaging Het
Ncoa1 A G 12: 4,365,755 (GRCm39) C215R probably benign Het
Ngef G A 1: 87,408,315 (GRCm39) S584F possibly damaging Het
Notch4 T C 17: 34,801,673 (GRCm39) C1174R probably damaging Het
Opa1 T C 16: 29,404,874 (GRCm39) I24T probably benign Het
Or10v1 A C 19: 11,873,393 (GRCm39) I3L probably benign Het
Or1e1b-ps1 A T 11: 73,845,662 (GRCm39) I49F probably damaging Het
Or1o4 T C 17: 37,591,254 (GRCm39) E19G probably benign Het
Or4a15 A G 2: 89,193,692 (GRCm39) V27A probably benign Het
Pcnx2 A G 8: 126,542,512 (GRCm39) V1223A probably benign Het
Phf14 A G 6: 11,933,492 (GRCm39) K118R unknown Het
Plcd1 A T 9: 118,905,231 (GRCm39) M186K probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Sumf1 A T 6: 108,130,096 (GRCm39) C233S possibly damaging Het
Tbc1d12 A G 19: 38,902,461 (GRCm39) K540R probably benign Het
Tmem150c T C 5: 100,240,643 (GRCm39) N73S probably damaging Het
Tpra1 T C 6: 88,888,774 (GRCm39) S319P probably benign Het
Ttk C A 9: 83,750,143 (GRCm39) Y699* probably null Het
Vmn1r196 T A 13: 22,477,790 (GRCm39) L143* probably null Het
Vmn2r84 A G 10: 130,221,745 (GRCm39) V825A possibly damaging Het
Zpld2 T G 4: 133,929,553 (GRCm39) T251P 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
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
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'- TAGCAGGGCAAGTGAGACTTC -3'
(R):5'- ATACAGTTCCTACATAGGCTATGC -3'

Sequencing Primer
(F):5'- TGGTAAGTCCACTAGAATGCAAAGC -3'
(R):5'- GTTCCCTTCCACGTACAA -3'
Posted On 2022-05-16