|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin and metallopeptidase domain 2|
|Synonyms||fertilin beta, Ftnb, Ph30-beta|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0690 (G1)|
|Chromosomal Location||66027329-66077733 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 66057646 bp|
|Amino Acid Change||Asparagine to Serine at position 250 (N250S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022618 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022618]|
|Predicted Effect||probably damaging
AA Change: N250S
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: N250S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2234|
|Coding Region Coverage||
|Validation Efficiency||97% (87/90)|
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 predominantly expressed in the epididymis, where the encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Male mice lacking the encoded protein are infertile and exhibit multiple defects in reproduction. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adam2||
(F):5'- AACAGACACGAACCTGAGGTGC -3'
(R):5'- AGGACGCTTGCTGCTGACTAAC -3'
(F):5'- GGGGGGTCTTAATAATCCCAC -3'
(R):5'- GCTGCTGACTAACACTTTAAGC -3'