Incidental Mutation 'IGL02822:Kdelr1'
ID 361075
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02822
Quality Score
Status
Chromosome 7
Chromosomal Location 45522264-45533150 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 45523288 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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 88,971,683 (GRCm39) C2R unknown Het
Aldh1a7 A G 19: 20,679,630 (GRCm39) V382A possibly damaging Het
Asap2 T C 12: 21,315,911 (GRCm39) V943A probably damaging Het
Bod1l C T 5: 41,951,688 (GRCm39) V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 (GRCm39) T471I probably damaging Het
Cd200l1 T C 16: 45,262,968 (GRCm39) Y57C probably damaging Het
Col20a1 T C 2: 180,638,600 (GRCm39) Y405H probably damaging Het
Elp1 A G 4: 56,774,520 (GRCm39) probably null Het
Evi5l T C 8: 4,237,248 (GRCm39) I117T probably damaging Het
Fbxw5 A G 2: 25,393,022 (GRCm39) N164S probably benign Het
Fga A G 3: 82,938,789 (GRCm39) E388G probably damaging Het
Fgfr1 A G 8: 26,047,818 (GRCm39) T55A probably benign Het
Gdpd4 T C 7: 97,621,131 (GRCm39) V148A possibly damaging Het
Gsap T A 5: 21,422,442 (GRCm39) V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 (GRCm39) H117R possibly damaging Het
Htr4 T A 18: 62,561,255 (GRCm39) probably benign Het
Ifitm1 T C 7: 140,548,191 (GRCm39) V8A possibly damaging Het
Klra6 G T 6: 129,993,673 (GRCm39) Y199* probably null Het
Matcap1 T C 8: 106,011,330 (GRCm39) Y268C probably damaging Het
Mmp21 C T 7: 133,277,828 (GRCm39) D333N possibly damaging Het
Mocs1 T C 17: 49,746,597 (GRCm39) F189S probably damaging Het
Myo18b C T 5: 112,923,211 (GRCm39) A1849T probably damaging Het
Naca C A 10: 127,875,214 (GRCm39) probably benign Het
Nbea A T 3: 55,926,868 (GRCm39) H778Q possibly damaging Het
Nlrp4c C T 7: 6,068,726 (GRCm39) P209L probably damaging Het
Or10q1b A G 19: 13,683,019 (GRCm39) D276G probably benign Het
Or14j1 T C 17: 38,146,534 (GRCm39) Y215H possibly damaging Het
Or4a81 A G 2: 89,619,444 (GRCm39) L84P possibly damaging Het
Osbpl9 A G 4: 108,930,118 (GRCm39) S258P probably damaging Het
Pclaf A G 9: 65,808,875 (GRCm39) E108G possibly damaging Het
Pira13 T A 7: 3,819,917 (GRCm39) T549S possibly damaging Het
Pla2r1 C A 2: 60,285,517 (GRCm39) C699F probably damaging Het
Pnkp A G 7: 44,511,848 (GRCm39) Y120C probably damaging Het
Psme4 T A 11: 30,798,204 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,587,606 (GRCm39) S720P probably damaging Het
Rasa1 T C 13: 85,400,633 (GRCm39) H301R probably damaging Het
Spg11 C A 2: 121,905,015 (GRCm39) W1316L probably damaging Het
Ube2t C T 1: 134,901,688 (GRCm39) probably benign Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign Het
Other mutations in Kdelr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-12-18