Incidental Mutation 'IGL01486:Kdelr3'
ID 88741
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 # IGL01486
Quality Score
Status
Chromosome 15
Chromosomal Location 79400612-79411940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79407048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 43 (V43D)
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: V43D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010974
Gene: ENSMUSG00000010830
AA Change: V43D

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx3 G T 3: 107,512,139 (GRCm39) C259F probably damaging Het
Ampd3 G T 7: 110,409,123 (GRCm39) probably benign Het
Atm T C 9: 53,421,513 (GRCm39) I733V probably benign Het
Chrd A G 16: 20,552,890 (GRCm39) probably null Het
Ckm G A 7: 19,155,156 (GRCm39) G262S probably damaging Het
Fbn1 A G 2: 125,231,898 (GRCm39) V412A probably benign Het
Fbxw22 G T 9: 109,207,941 (GRCm39) S443R probably damaging Het
Hdgfl2 G T 17: 56,405,733 (GRCm39) A481S possibly damaging Het
Hmcn2 G A 2: 31,226,633 (GRCm39) V203M probably damaging Het
Klk1b8 A G 7: 43,453,113 (GRCm39) K235E probably benign Het
Macir A T 1: 97,573,731 (GRCm39) S111R probably damaging Het
Mapk1 A T 16: 16,836,144 (GRCm39) probably benign Het
Nfic T C 10: 81,243,478 (GRCm39) probably null Het
Pkd1l2 T C 8: 117,786,331 (GRCm39) T625A probably benign Het
Psd2 A G 18: 36,113,388 (GRCm39) S287G probably benign Het
Smap2 A T 4: 120,830,395 (GRCm39) F247I probably damaging Het
Spata4 T C 8: 55,055,341 (GRCm39) probably benign Het
Tff2 T G 17: 31,361,316 (GRCm39) E79A probably benign Het
Thsd7a C T 6: 12,471,079 (GRCm39) C513Y probably damaging Het
Tshz1 A G 18: 84,031,634 (GRCm39) S925P possibly damaging Het
Xrcc4 C A 13: 90,210,151 (GRCm39) E98* probably null Het
Ypel3 A G 7: 126,377,033 (GRCm39) T38A probably damaging Het
Zfhx2 C T 14: 55,304,547 (GRCm39) G1146R probably damaging Het
Zfp446 T A 7: 12,713,307 (GRCm39) probably null Het
Other mutations in Kdelr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Kdelr3 APN 15 79,407,121 (GRCm39) unclassified probably benign
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 2013-11-18