Incidental Mutation 'IGL02233:Adam25'
ID285806
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: 0.072) question?
Stock #IGL02233
Quality Score
Status
Chromosome8
Chromosomal Location40752208-40756176 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40755386 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 563 (Y563C)
Ref Sequence ENSEMBL: ENSMUSP00000094420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096663]
Predicted Effect probably damaging
Transcript: ENSMUST00000096663
AA Change: Y563C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: Y563C

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,274,344 Q1581* probably null Het
Abcc10 A T 17: 46,324,159 probably null Het
Cnr2 T A 4: 135,917,211 I200N possibly damaging Het
Col5a2 T C 1: 45,383,587 probably null Het
Cpa2 T C 6: 30,557,667 probably benign Het
Dis3l2 T C 1: 86,990,231 V534A probably damaging Het
Dlg2 A T 7: 92,444,538 D845V probably damaging Het
Dnah8 T C 17: 30,706,513 probably null Het
Ephb4 T A 5: 137,354,501 Y115* probably null Het
Evc2 A G 5: 37,378,337 Y452C probably damaging Het
Fbn1 A G 2: 125,321,610 probably benign Het
Gm5134 A T 10: 76,008,500 probably null Het
Gpr157 A G 4: 150,101,727 T249A possibly damaging Het
Hoxc6 A G 15: 103,009,876 T91A probably benign Het
Lin9 C A 1: 180,689,300 A535E probably damaging Het
Muc1 G A 3: 89,231,628 V515I probably benign Het
Mup3 A G 4: 62,084,779 I170T probably damaging Het
Myo1e T C 9: 70,383,799 probably benign Het
Olfr411 A G 11: 74,347,428 V52A possibly damaging Het
Olfr914 A G 9: 38,607,242 Y259C probably damaging Het
Pde4d T C 13: 109,740,550 S202P probably damaging Het
Pomt2 A G 12: 87,111,411 V676A probably benign Het
Rasl10a C A 11: 5,058,333 L10M probably damaging Het
Rilp T C 11: 75,512,712 Y327H probably damaging Het
Sec23ip A G 7: 128,779,179 S957G probably damaging Het
Srbd1 T C 17: 86,098,622 probably null Het
Thsd7a T C 6: 12,555,258 H209R probably benign Het
Trav14-3 T C 14: 53,763,186 probably benign Het
Vipr2 A G 12: 116,094,736 N91S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null 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
IGL02458:Adam25 APN 8 40753807 missense probably benign 0.01
IGL02527:Adam25 APN 8 40753748 missense possibly damaging 0.78
IGL02632:Adam25 APN 8 40755200 missense possibly damaging 0.90
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
R7531:Adam25 UTSW 8 40753877 missense probably damaging 0.99
R7600:Adam25 UTSW 8 40755817 missense probably benign 0.01
R7634:Adam25 UTSW 8 40754846 missense probably benign 0.00
R8021:Adam25 UTSW 8 40754759 missense probably damaging 1.00
RF006:Adam25 UTSW 8 40755797 missense probably benign
Posted On2015-04-16