|Institutional Source||Beutler Lab|
|Gene Name||peptidyl arginine deiminase, type VI|
|Synonyms||Padi5, Pad6, ePAD|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3177 (G1)|
|Chromosomal Location||140727355-140742643 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 140735389 bp|
|Amino Acid Change||Leucine to Proline at position 307 (L307P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044044 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038749] [ENSMUST00000130267]|
|Predicted Effect||probably damaging
AA Change: L307P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L307P
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1502|
|Coding Region Coverage||
|Validation Efficiency||100% (21/21)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Padi6||
(F):5'- GAGTCACGACTGGAAGTGTC -3'
(R):5'- ACACTGAAGCTCTCGGTACAG -3'
(F):5'- TGGAAGTGTCCCCACAACTG -3'
(R):5'- AAGCTCTCGGTACAGCTGGG -3'