Incidental Mutation 'IGL01772:Kdelr3'
ID 153703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdelr3
Ensembl Gene ENSMUSG00000010830
Gene Name KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL01772
Quality Score
Status
Chromosome 15
Chromosomal Location 79400612-79411940 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 79407121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010974] [ENSMUST00000054014] [ENSMUST00000229877]
AlphaFold Q8R1L4
Predicted Effect probably benign
Transcript: ENSMUST00000010974
SMART Domains Protein: ENSMUSP00000010974
Gene: ENSMUSG00000010830

DomainStartEndE-ValueType
Pfam:ER_lumen_recept 28 169 3.3e-54 PFAM
transmembrane domain 179 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054014
SMART Domains Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:DEXDc 29 87 7e-18 BLAST
DEXDc 111 314 4.79e-65 SMART
HELICc 353 434 3.34e-32 SMART
low complexity region 477 486 N/A INTRINSIC
low complexity region 550 576 N/A INTRINSIC
low complexity region 578 611 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229877
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. 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. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C T 11: 58,313,710 (GRCm39) P113S probably benign Het
Ano2 T C 6: 126,013,821 (GRCm39) Y881H probably damaging Het
Coro2b G T 9: 62,333,090 (GRCm39) P131T probably damaging Het
Glra3 A G 8: 56,542,090 (GRCm39) I278V probably benign Het
Grin2d T C 7: 45,507,890 (GRCm39) D392G probably benign Het
Ifrd2 A G 9: 107,469,331 (GRCm39) S360G probably benign Het
Mtdh T A 15: 34,140,027 (GRCm39) S345R probably damaging Het
Mtrex A G 13: 113,027,859 (GRCm39) F667S probably benign Het
Ncor1 G A 11: 62,240,173 (GRCm39) probably benign Het
Nf1 T A 11: 79,281,075 (GRCm39) V110D probably damaging Het
Nlk T A 11: 78,480,201 (GRCm39) H256L probably damaging Het
Or52w1 A T 7: 105,017,641 (GRCm39) D36V probably benign Het
Or52z13 T A 7: 103,247,120 (GRCm39) I199N probably benign Het
Or8c16 A T 9: 38,130,905 (GRCm39) Y262F probably damaging Het
Pgr T C 9: 8,946,637 (GRCm39) probably benign Het
Ptprn A G 1: 75,228,914 (GRCm39) Y834H probably damaging Het
Rbfox3 G T 11: 118,387,797 (GRCm39) A241E probably damaging Het
Tarbp1 G A 8: 127,173,970 (GRCm39) probably benign Het
Ttn A T 2: 76,598,055 (GRCm39) D19619E probably damaging Het
Unc13d C A 11: 115,967,358 (GRCm39) E45D possibly damaging Het
Vil1 A G 1: 74,454,278 (GRCm39) I14V probably benign Het
Other mutations in Kdelr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Kdelr3 APN 15 79,407,048 (GRCm39) missense probably damaging 1.00
IGL02437:Kdelr3 APN 15 79,409,988 (GRCm39) missense probably damaging 1.00
R1581:Kdelr3 UTSW 15 79,407,114 (GRCm39) critical splice donor site probably null
R2567:Kdelr3 UTSW 15 79,407,032 (GRCm39) missense probably benign
R4851:Kdelr3 UTSW 15 79,409,066 (GRCm39) missense possibly damaging 0.89
R5376:Kdelr3 UTSW 15 79,410,061 (GRCm39) missense possibly damaging 0.93
R5696:Kdelr3 UTSW 15 79,410,100 (GRCm39) splice site probably null
R7407:Kdelr3 UTSW 15 79,409,039 (GRCm39) missense probably damaging 0.99
R8811:Kdelr3 UTSW 15 79,410,052 (GRCm39) missense possibly damaging 0.46
R8871:Kdelr3 UTSW 15 79,410,044 (GRCm39) nonsense probably null
R9297:Kdelr3 UTSW 15 79,411,275 (GRCm39) missense probably benign 0.00
R9318:Kdelr3 UTSW 15 79,411,275 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04