|Institutional Source||Beutler Lab|
|Gene Name||peptidyl arginine deiminase, type III|
|Synonyms||PAD type III, Pdi3, Pad3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9403 (G1)|
|Chromosomal Location||140785365-140810648 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 140810532 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Valine at position 26 (I26V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026377 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000026378]|
AA Change: I26V
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: I26V
|Coding Region Coverage||
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. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit alterations in coat/ hair and vibrissa morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Padi3||
(F):5'- TAAGTCCAATGTACGGAGCTCAG -3'
(R):5'- CAATAAGCTTGCGCCCTGAG -3'
(F):5'- CTGGATCCTCAGGTTCAAAAAC -3'
(R):5'- TTGCGCCCTGAGCTGGAG -3'