|Institutional Source||Beutler Lab|
|Gene Name||KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2|
|Is this an essential gene?||Possibly essential (E-score: 0.734)|
|Stock #||R0319 (G1)|
|Chromosomal Location||143403838-143421901 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 143412517 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 40 (F40I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106359 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110731]|
|Predicted Effect||probably damaging
AA Change: F40I
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: F40I
|Meta Mutation Damage Score||0.44|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kdelr2||
(F):5'- GCCTAATCAGTTGTTTCCAGAGCCT -3'
(R):5'- GGAGCCGCAAACCAAGTTCTTAGA -3'
(F):5'- AGAGCCTTCCCCTGTCTG -3'
(R):5'- cacacacacacacacatacac -3'