Incidental Mutation 'IGL02632:Adam25'
ID301366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam25
Ensembl Gene ENSMUSG00000071937
Gene Namea disintegrin and metallopeptidase domain 25 (testase 2)
Synonymstestase 2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL02632
Quality Score
Status
Chromosome8
Chromosomal Location40752208-40756176 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40755200 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 501 (V501A)
Ref Sequence ENSEMBL: ENSMUSP00000094420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096663]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096663
AA Change: V501A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: V501A

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 53 179 3.4e-21 PFAM
Pfam:Reprolysin_5 220 398 1.6e-16 PFAM
Pfam:Reprolysin_4 220 407 2.5e-13 PFAM
Pfam:Reprolysin 221 410 5.6e-46 PFAM
Pfam:Reprolysin_2 222 399 9.7e-14 PFAM
Pfam:Reprolysin_3 246 366 1e-18 PFAM
DISIN 428 503 3.33e-39 SMART
ACR 504 640 8.95e-74 SMART
transmembrane domain 706 728 N/A INTRINSIC
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. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpl T G 4: 137,753,906 N145T probably damaging Het
Aqp5 T A 15: 99,593,335 probably benign Het
Armc4 A G 18: 7,214,727 probably benign Het
Atp1a2 T A 1: 172,280,614 D640V possibly damaging Het
Atp5o T C 16: 91,928,942 E49G probably benign Het
Card14 A G 11: 119,338,904 D747G probably benign Het
Cpz A T 5: 35,511,811 D325E possibly damaging Het
Crim1 T C 17: 78,372,674 I948T probably benign Het
Dpysl3 A T 18: 43,393,025 S2T possibly damaging Het
Fat4 T C 3: 39,002,764 V4203A probably benign Het
Gapvd1 G A 2: 34,684,174 probably benign Het
Gm7173 A T X: 79,496,673 L553H probably damaging Het
Gpatch2 A G 1: 187,225,981 R155G probably damaging Het
Grpr A T X: 163,515,094 V318E probably damaging Het
Hipk1 T C 3: 103,760,545 T569A probably benign Het
Il3ra G A 14: 14,350,807 probably null Het
Llgl2 A G 11: 115,844,872 H98R probably damaging Het
Loxhd1 A G 18: 77,405,932 D663G probably damaging Het
Lrrc71 T C 3: 87,743,340 N205S probably damaging Het
Mamdc2 C T 19: 23,330,976 E521K probably benign Het
Mapre2 A G 18: 23,858,160 M162V probably benign Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mib2 T C 4: 155,655,579 D739G probably damaging Het
Mroh2b T C 15: 4,931,101 F772S probably damaging Het
Mtss1 C T 15: 58,944,015 M565I probably damaging Het
Myt1l T G 12: 29,914,293 S1077A unknown Het
Nalcn T C 14: 123,317,853 T873A probably benign Het
Nwd1 T A 8: 72,667,454 H448Q possibly damaging Het
Olfr1052 T C 2: 86,298,560 V248A probably damaging Het
Olfr114 T C 17: 37,590,341 E4G probably benign Het
Olfr631 A G 7: 103,929,707 I295V possibly damaging Het
Palld C T 8: 61,515,245 E1096K probably damaging Het
Pdcd2 A G 17: 15,521,792 V292A probably damaging Het
Pde2a A G 7: 101,504,656 Y477C probably damaging Het
Pramef25 A G 4: 143,949,937 I199T possibly damaging Het
Rcbtb1 T C 14: 59,224,682 L254P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsl1 A C 13: 67,182,163 H225P probably damaging Het
Sec14l2 T C 11: 4,111,222 I80V probably benign Het
Sema6a G T 18: 47,290,155 D261E probably damaging Het
Serpinb9b T A 13: 33,039,823 S333T probably benign Het
Slc24a4 T C 12: 102,234,682 V277A probably benign Het
Snap91 T A 9: 86,839,522 H88L possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmprss15 T A 16: 78,985,902 N758I probably damaging Het
Ube3b C T 5: 114,398,841 A300V probably benign Het
Vmn2r82 G A 10: 79,356,708 V40I probably benign Het
Vsig4 G T X: 96,247,772 Q265K probably benign Het
Wdr91 T C 6: 34,889,042 D525G probably damaging Het
Other mutations in Adam25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Adam25 APN 8 40754921 missense probably benign
IGL01977:Adam25 APN 8 40755097 missense probably benign 0.00
IGL02098:Adam25 APN 8 40755643 missense probably benign 0.12
IGL02233:Adam25 APN 8 40755386 missense probably damaging 1.00
IGL02458:Adam25 APN 8 40753807 missense probably benign 0.01
IGL02527:Adam25 APN 8 40753748 missense possibly damaging 0.78
IGL02995:Adam25 APN 8 40753723 missense probably benign 0.00
H8786:Adam25 UTSW 8 40754224 missense probably benign 0.00
R0062:Adam25 UTSW 8 40754792 missense probably damaging 1.00
R0062:Adam25 UTSW 8 40754792 missense probably damaging 1.00
R0189:Adam25 UTSW 8 40755430 missense probably damaging 1.00
R0505:Adam25 UTSW 8 40755224 missense probably damaging 1.00
R0532:Adam25 UTSW 8 40755950 missense probably benign 0.00
R0699:Adam25 UTSW 8 40755974 missense probably benign
R0972:Adam25 UTSW 8 40755131 missense probably damaging 1.00
R1053:Adam25 UTSW 8 40754731 missense probably benign 0.30
R1079:Adam25 UTSW 8 40755476 missense possibly damaging 0.87
R1872:Adam25 UTSW 8 40755226 nonsense probably null
R1933:Adam25 UTSW 8 40754885 missense probably benign 0.01
R1934:Adam25 UTSW 8 40754885 missense probably benign 0.01
R4061:Adam25 UTSW 8 40753782 missense possibly damaging 0.67
R4702:Adam25 UTSW 8 40754126 missense probably damaging 1.00
R4703:Adam25 UTSW 8 40754126 missense probably damaging 1.00
R4705:Adam25 UTSW 8 40754126 missense probably damaging 1.00
R4859:Adam25 UTSW 8 40754543 missense probably benign 0.01
R5015:Adam25 UTSW 8 40754634 missense probably benign 0.22
R5249:Adam25 UTSW 8 40755954 missense probably benign
R5628:Adam25 UTSW 8 40755710 missense probably benign 0.00
R5791:Adam25 UTSW 8 40754220 missense probably benign
R6439:Adam25 UTSW 8 40754590 missense possibly damaging 0.92
R6693:Adam25 UTSW 8 40754531 missense probably damaging 1.00
R7041:Adam25 UTSW 8 40754084 missense probably benign 0.04
R7101:Adam25 UTSW 8 40755401 missense probably benign 0.00
Posted On2015-04-16