Incidental Mutation 'IGL03220:Kdelr2'
ID413625
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 #IGL03220
Quality Score
Status
Chromosome5
Chromosomal Location143403838-143421901 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 143418115 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 86 (Y86*)
Ref Sequence ENSEMBL: ENSMUSP00000106359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110731]
Predicted Effect probably null
Transcript: ENSMUST00000110731
AA Change: Y86*
SMART Domains Protein: ENSMUSP00000106359
Gene: ENSMUSG00000079111
AA Change: Y86*

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T A 1: 179,788,202 E368D probably benign Het
AI481877 G A 4: 59,082,378 Q417* probably null Het
Arid2 A T 15: 96,361,772 H271L probably damaging Het
Bsnd G T 4: 106,486,765 Q115K possibly damaging Het
Ceacam5 T A 7: 17,760,728 I887N probably damaging Het
Clrn2 T C 5: 45,463,728 F155L probably damaging Het
Col12a1 A G 9: 79,699,483 S553P probably damaging Het
Crnn C T 3: 93,149,367 H487Y possibly damaging Het
Ddi2 T C 4: 141,708,456 N90S probably benign Het
Deup1 T A 9: 15,592,411 I285L probably benign Het
Dlgap4 T C 2: 156,704,626 S405P probably damaging Het
Dnah11 A G 12: 118,105,985 F1560L probably benign Het
Dock1 T C 7: 135,108,522 probably null Het
Dst C A 1: 34,185,995 Q1161K probably damaging Het
Dus1l G T 11: 120,792,359 H280N probably damaging Het
Gm21985 C A 2: 112,357,484 H964N possibly damaging Het
Gzmd A T 14: 56,130,429 V129E probably damaging Het
Hmcn2 T A 2: 31,346,621 F392Y possibly damaging Het
Kif26b T G 1: 178,864,869 C458W probably damaging Het
Lhpp G A 7: 132,650,291 V220I probably benign Het
Nfya T C 17: 48,400,493 N7S possibly damaging Het
Olfr1019 G T 2: 85,840,982 Q270K possibly damaging Het
Olfr1445 C T 19: 12,884,451 T190I possibly damaging Het
Olfr1449 A C 19: 12,935,494 Y252S probably damaging Het
Prkg1 A T 19: 30,569,237 probably benign Het
Prpf6 A G 2: 181,632,879 E383G probably damaging Het
Ptpn21 A T 12: 98,678,623 V1153E probably damaging Het
Ryr1 A T 7: 29,059,855 I3330N probably damaging Het
Sgk1 A G 10: 21,997,391 D252G probably null Het
Shcbp1l T C 1: 153,433,165 probably benign Het
Skida1 T C 2: 18,048,161 D60G probably damaging Het
Slc9a5 T A 8: 105,368,020 C748S probably benign Het
Smc4 A T 3: 69,009,542 Y163F possibly damaging Het
Spdya T C 17: 71,578,291 S247P possibly damaging Het
Sptb T C 12: 76,612,910 D1072G probably benign Het
St7l A T 3: 104,874,823 probably benign Het
Trmt1l T C 1: 151,440,941 probably benign Het
Tspan4 A G 7: 141,491,799 Y153C probably damaging Het
Ulk4 A T 9: 121,145,336 N944K probably damaging Het
Unc80 T C 1: 66,504,938 C407R probably damaging Het
Zfp563 T G 17: 33,104,687 S85R probably benign Het
Zp2 A C 7: 120,137,227 L331R possibly damaging Het
Other mutations in Kdelr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Kdelr2 APN 5 143412575 missense probably damaging 1.00
IGL01961:Kdelr2 APN 5 143420801 missense probably benign 0.01
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 On2016-08-02