Incidental Mutation 'IGL02437:Kdelr3'
ID 293317
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 # IGL02437
Quality Score
Status
Chromosome 15
Chromosomal Location 79400612-79411940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79409988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 158 (Y158H)
Ref Sequence ENSEMBL: ENSMUSP00000010974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010974] [ENSMUST00000054014] [ENSMUST00000229877]
AlphaFold Q8R1L4
Predicted Effect probably damaging
Transcript: ENSMUST00000010974
AA Change: Y158H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010974
Gene: ENSMUSG00000010830
AA Change: Y158H

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Brat1 C T 5: 140,698,563 (GRCm39) A245V possibly damaging Het
Cask G A X: 13,403,860 (GRCm39) T16I probably damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dcaf15 C T 8: 84,828,445 (GRCm39) G215D probably damaging Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Heph A G X: 95,516,633 (GRCm39) T342A probably benign Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Nampt A G 12: 32,880,215 (GRCm39) Y36C probably damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Phf8 T A X: 150,414,356 (GRCm39) L1002Q possibly damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sec62 G A 3: 30,872,996 (GRCm39) G360R unknown Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I probably damaging Het
Other mutations in Kdelr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Kdelr3 APN 15 79,407,048 (GRCm39) missense probably damaging 1.00
IGL01772:Kdelr3 APN 15 79,407,121 (GRCm39) unclassified probably benign
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 2015-04-16