|Institutional Source||Beutler Lab|
|Gene Name||PDZ domain containing 2|
|Synonyms||Pdzk3, A930022H17Rik, 4930537L06Rik, Gm21706, LOC223364|
|Is this an essential gene?||Probably non essential (E-score: 0.165)|
|Stock #||R8879 (G1)|
|Chromosomal Location||12359711-12739924 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 12402319 bp|
|Amino Acid Change||Valine to Phenylalanine at position 729 (V729F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074788 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075317] [ENSMUST00000190929]|
|AlphaFold||no structure available at present|
|Predicted Effect||probably damaging
AA Change: V729F
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: V729F
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdzd2||
(F):5'- GCCACTTTGAGAACAGCATC -3'
(R):5'- TACTTGTTTTGCAGCAAATCCG -3'
(F):5'- TTGAGAACAGCATCTGTCGC -3'
(R):5'- TTTTGCAGCAAATCCGAAGCG -3'