Incidental Mutation 'W0251:Kdelr1'
ID 166605
Institutional Source Beutler Lab
Gene Symbol Kdelr1
Ensembl Gene ENSMUSG00000002778
Gene Name KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
Synonyms 8030486F04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # W0251 (G3R) of strain daniel_gray
Quality Score 222
Status Not validated
Chromosome 7
Chromosomal Location 45522264-45533150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45531045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 96 (Y96C)
Ref Sequence ENSEMBL: ENSMUSP00000147273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002855] [ENSMUST00000211234] [ENSMUST00000211250] [ENSMUST00000211716]
AlphaFold Q99JH8
Predicted Effect probably damaging
Transcript: ENSMUST00000002855
AA Change: Y158C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002855
Gene: ENSMUSG00000002778
AA Change: Y158C

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Pfam:ER_lumen_recept 28 169 7.5e-58 PFAM
transmembrane domain 178 200 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211234
AA Change: Y96C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211495
Predicted Effect probably benign
Transcript: ENSMUST00000211716
Meta Mutation Damage Score 0.9750 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.3%
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, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced single point mutation display thymus hypoplasia and a reduction in CD4+ as well as CD8+ T cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2a1b T A 9: 89,081,636 (GRCm39) M75K probably damaging Het
Btaf1 G A 19: 36,980,904 (GRCm39) R1575H probably damaging Het
Cfap46 T C 7: 139,183,862 (GRCm39) M2507V probably benign Het
Dcc T C 18: 71,959,154 (GRCm39) D206G probably damaging Het
Dnah6 T A 6: 73,155,501 (GRCm39) I705F possibly damaging Het
Entpd1 A T 19: 40,714,697 (GRCm39) I269F probably damaging Het
Gm4559 G C 7: 141,827,535 (GRCm39) A189G unknown Het
Ipo5 T A 14: 121,176,197 (GRCm39) M648K probably benign Het
Mmp17 C T 5: 129,672,591 (GRCm39) A181V probably benign Het
Muc20 T C 16: 32,614,223 (GRCm39) I385V possibly damaging Het
Or13c7 C T 4: 43,855,058 (GRCm39) L250F probably benign Het
Pik3r6 A G 11: 68,424,697 (GRCm39) Y434C probably benign Het
Pura T C 18: 36,420,843 (GRCm39) V210A probably benign Het
Spic C T 10: 88,515,766 (GRCm39) D19N probably damaging Het
Other mutations in Kdelr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02822:Kdelr1 APN 7 45,523,288 (GRCm39) splice site probably benign
daniel_gray UTSW 7 45,531,045 (GRCm39) missense probably damaging 1.00
R0269:Kdelr1 UTSW 7 45,523,463 (GRCm39) splice site probably benign
R4677:Kdelr1 UTSW 7 45,523,197 (GRCm39) missense probably benign 0.18
R5685:Kdelr1 UTSW 7 45,531,041 (GRCm39) frame shift probably null
R7098:Kdelr1 UTSW 7 45,523,480 (GRCm39) missense possibly damaging 0.66
R7658:Kdelr1 UTSW 7 45,532,401 (GRCm39) missense probably benign 0.06
R9314:Kdelr1 UTSW 7 45,531,050 (GRCm39) missense probably benign
Z1177:Kdelr1 UTSW 7 45,522,372 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTCTGTGATGCTGACAGTGCCTC -3'
(R):5'- GAAGTCAGGAAAGGAAGCCCCATTC -3'

Sequencing Primer
(F):5'- GCTGACAGTGCCTCATCCTG -3'
(R):5'- GGAAGCCCCATTCCTTAAGTG -3'
Posted On 2014-04-13