Incidental Mutation 'R0269:Kdelr1'
ID 35143
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
MMRRC Submission 038495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0269 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45522264-45533150 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 45523463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002855] [ENSMUST00000211234] [ENSMUST00000211250] [ENSMUST00000211713] [ENSMUST00000211716]
AlphaFold Q99JH8
Predicted Effect probably benign
Transcript: ENSMUST00000002855
SMART Domains Protein: ENSMUSP00000002855
Gene: ENSMUSG00000002778

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 noncoding transcript
Transcript: ENSMUST00000157930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211152
Predicted Effect probably benign
Transcript: ENSMUST00000211234
Predicted Effect probably benign
Transcript: ENSMUST00000211250
Predicted Effect probably benign
Transcript: ENSMUST00000211713
Predicted Effect probably benign
Transcript: ENSMUST00000211716
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.1%
  • 20x: 93.6%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,838,201 (GRCm39) V231I possibly damaging Het
Abca1 T C 4: 53,044,228 (GRCm39) D1798G probably benign Het
Adcy2 T A 13: 68,826,725 (GRCm39) K660* probably null Het
Alk G T 17: 72,910,578 (GRCm39) P43T probably damaging Het
Amhr2 T C 15: 102,355,503 (GRCm39) C189R probably benign Het
Arrb1 T C 7: 99,243,884 (GRCm39) L278P probably damaging Het
AW551984 T C 9: 39,511,246 (GRCm39) Y153C probably damaging Het
Bpifb1 A G 2: 154,054,867 (GRCm39) D253G possibly damaging Het
Bpifb9b C T 2: 154,161,545 (GRCm39) T559M probably benign Het
Cd46 T G 1: 194,746,996 (GRCm39) I339L probably benign Het
Cdkn2aip A G 8: 48,165,012 (GRCm39) S234P probably damaging Het
Chil3 T C 3: 106,063,072 (GRCm39) K173E probably benign Het
Csf2rb2 G T 15: 78,173,065 (GRCm39) T265N probably benign Het
Cyp2c40 A G 19: 39,762,340 (GRCm39) F436L probably damaging Het
D130040H23Rik T C 8: 69,753,446 (GRCm39) F24S probably benign Het
Defb12 G T 8: 19,164,375 (GRCm39) A34E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxl17 A C 17: 63,691,987 (GRCm39) F42V probably damaging Het
Gldc T A 19: 30,096,002 (GRCm39) I670F probably damaging Het
Guf1 A C 5: 69,716,942 (GRCm39) Q168P probably damaging Het
Hcn2 A G 10: 79,570,075 (GRCm39) probably benign Het
Hddc2 A G 10: 31,203,942 (GRCm39) M190V probably benign Het
Kcnq2 T C 2: 180,738,767 (GRCm39) E294G probably benign Het
Kidins220 T A 12: 25,090,511 (GRCm39) H1158Q probably damaging Het
Laptm5 A T 4: 130,658,127 (GRCm39) N185Y probably benign Het
Mgat4a A G 1: 37,529,388 (GRCm39) Y164H possibly damaging Het
Mlh3 C A 12: 85,315,179 (GRCm39) V336L probably benign Het
Myadm A G 7: 3,345,273 (GRCm39) T12A unknown Het
Nol8 T C 13: 49,807,921 (GRCm39) F46L possibly damaging Het
Ntrk1 T C 3: 87,691,240 (GRCm39) D308G possibly damaging Het
Oog3 A T 4: 143,886,784 (GRCm39) V112D probably benign Het
Or4a66 A G 2: 88,531,040 (GRCm39) V211A probably damaging Het
Or5af2 T C 11: 58,707,975 (GRCm39) V47A probably damaging Het
Or5m9b A G 2: 85,905,485 (GRCm39) M134V probably benign Het
Or8g34 T C 9: 39,373,090 (GRCm39) M118T probably damaging Het
Or9s18 A T 13: 65,300,692 (GRCm39) Y218F possibly damaging Het
Pramel14 A G 4: 143,720,088 (GRCm39) probably benign Het
Prss39 A T 1: 34,539,279 (GRCm39) H173L probably damaging Het
Rabl6 A G 2: 25,476,878 (GRCm39) probably null Het
Recql5 T C 11: 115,819,050 (GRCm39) D172G possibly damaging Het
Reln T C 5: 22,125,535 (GRCm39) D2716G probably damaging Het
Rgs7 A G 1: 175,098,386 (GRCm39) S58P possibly damaging Het
Sema6d T A 2: 124,502,665 (GRCm39) F583L possibly damaging Het
Sgsm1 T C 5: 113,434,795 (GRCm39) probably null Het
Slc22a19 A T 19: 7,686,986 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,936,332 (GRCm39) Y428* probably null Het
Smarca4 T G 9: 21,547,497 (GRCm39) M260R probably benign Het
Smg6 C A 11: 75,053,757 (GRCm39) T1413K probably benign Het
Spata17 T C 1: 186,830,069 (GRCm39) I322V probably benign Het
Stxbp1 A C 2: 32,692,795 (GRCm39) I407S probably damaging Het
Sult1d1 A T 5: 87,712,661 (GRCm39) I61N probably damaging Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tm4sf5 T A 11: 70,401,495 (GRCm39) S165T probably damaging Het
Tmx2 T C 2: 84,502,740 (GRCm39) D256G probably benign Het
Trmt11 T A 10: 30,463,485 (GRCm39) H210L probably benign Het
Tut7 A T 13: 59,964,669 (GRCm39) probably null Het
Ush2a T A 1: 188,542,373 (GRCm39) M3313K probably benign Het
Zfp955b A T 17: 33,524,437 (GRCm39) S43R 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
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
W0251:Kdelr1 UTSW 7 45,531,045 (GRCm39) missense probably damaging 1.00
Z1177:Kdelr1 UTSW 7 45,522,372 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGAGCCAAGTCCTGTTTGCTGTG -3'
(R):5'- AAACCTACCTCCAGAGGGGTGAAG -3'

Sequencing Primer
(F):5'- GATATCTGGACCTGTTCACCAAC -3'
(R):5'- TGTCGTGGTTGCCATCAT -3'
Posted On 2013-05-09