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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |