Incidental Mutation 'IGL01961:Kdelr2'
ID182416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdelr2
Ensembl Gene ENSMUSG00000079111
Gene NameKDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.751) question?
Stock #IGL01961
Quality Score
Status
Chromosome5
Chromosomal Location143403838-143421901 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143420801 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 202 (V202A)
Ref Sequence ENSEMBL: ENSMUSP00000106359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110731]
Predicted Effect probably benign
Transcript: ENSMUST00000110731
AA Change: V202A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000106359
Gene: ENSMUSG00000079111
AA Change: V202A

DomainStartEndE-ValueType
Pfam:ER_lumen_recept 28 169 1.6e-57 PFAM
transmembrane domain 178 200 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Catsperg2 A G 7: 29,721,672 probably benign Het
Elmsan1 T C 12: 84,173,614 K189E probably damaging Het
Gm9958 C A 5: 90,367,978 probably benign Het
Mlh3 T C 12: 85,266,344 R1023G probably benign Het
Pcdhb7 A G 18: 37,342,473 K221E probably damaging Het
Ptprq A G 10: 107,643,654 S1171P probably damaging Het
Sez6l G A 5: 112,471,731 T345M probably damaging Het
Skint7 T C 4: 111,977,463 Y15H probably benign Het
Strip2 T C 6: 29,928,427 probably benign Het
Syne1 C A 10: 5,043,723 R8339M possibly damaging Het
Tmtc3 A T 10: 100,447,031 D887E probably benign Het
Ush1g A G 11: 115,318,535 S278P probably benign Het
Wars A T 12: 108,866,170 M323K probably damaging Het
Zc3h11a G A 1: 133,627,067 R392W probably benign Het
Zswim8 T C 14: 20,712,334 F305L possibly damaging Het
Other mutations in Kdelr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Kdelr2 APN 5 143412575 missense probably damaging 1.00
IGL03220:Kdelr2 APN 5 143418115 nonsense probably null
fennel UTSW 5 143412517 missense probably damaging 0.98
R0319:Kdelr2 UTSW 5 143412517 missense probably damaging 0.98
R1765:Kdelr2 UTSW 5 143420812 nonsense probably null
R5424:Kdelr2 UTSW 5 143418144 missense probably benign 0.03
R5488:Kdelr2 UTSW 5 143404029 missense probably damaging 0.98
Posted On2014-05-07