Incidental Mutation 'IGL01461:Poglut2'
| ID |
87994 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Poglut2
|
| Ensembl Gene |
ENSMUSG00000026047 |
| Gene Name |
protein O-glucosyltransferase 2 |
| Synonyms |
5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
IGL01461
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
44145706-44157968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44150094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 365
(Q365R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027213]
[ENSMUST00000065767]
[ENSMUST00000152643]
|
| AlphaFold |
Q9JHP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027213
|
| SMART Domains |
Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
28 |
130 |
3.16e-16 |
SMART |
|
CAP10
|
226 |
400 |
1.65e-51 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065767
AA Change: Q365R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: Q365R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
28 |
130 |
3.16e-16 |
SMART |
|
CAP10
|
226 |
470 |
4.81e-135 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152643
|
| SMART Domains |
Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
28 |
133 |
9.21e-18 |
SMART |
|
| 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 protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,214 (GRCm39) |
F767S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,884 (GRCm39) |
M1137L |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,099,717 (GRCm39) |
Q445* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,244,926 (GRCm39) |
T990A |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,293 (GRCm39) |
L1513S |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,480 (GRCm39) |
K56R |
probably damaging |
Het |
| Cryaa |
A |
G |
17: 31,900,000 (GRCm39) |
Y118C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,278,729 (GRCm39) |
T378A |
possibly damaging |
Het |
| E330020D12Rik |
A |
G |
1: 153,284,105 (GRCm39) |
|
noncoding transcript |
Het |
| F7 |
A |
G |
8: 13,082,245 (GRCm39) |
D145G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,849,905 (GRCm39) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,154,103 (GRCm39) |
K680* |
probably null |
Het |
| Ing1 |
T |
G |
8: 11,611,453 (GRCm39) |
F22V |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,165,945 (GRCm39) |
D330G |
probably damaging |
Het |
| Itgax |
G |
T |
7: 127,734,190 (GRCm39) |
D321Y |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,678,845 (GRCm39) |
|
probably null |
Het |
| Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,890,576 (GRCm39) |
M925L |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 152,040,934 (GRCm39) |
E78K |
probably damaging |
Het |
| Or4c106 |
G |
T |
2: 88,682,669 (GRCm39) |
C125F |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,245 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
T |
C |
15: 85,704,575 (GRCm39) |
I454V |
possibly damaging |
Het |
| Prpf6 |
C |
A |
2: 181,273,304 (GRCm39) |
T283N |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,106,643 (GRCm39) |
H197R |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,233,013 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
A |
C |
16: 17,439,370 (GRCm39) |
Q7P |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,094 (GRCm39) |
I248K |
possibly damaging |
Het |
|
| Other mutations in Poglut2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03185:Poglut2
|
APN |
1 |
44,156,359 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0480:Poglut2
|
UTSW |
1 |
44,149,917 (GRCm39) |
nonsense |
probably null |
|
|
R4617:Poglut2
|
UTSW |
1 |
44,149,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5534:Poglut2
|
UTSW |
1 |
44,151,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Poglut2
|
UTSW |
1 |
44,156,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6044:Poglut2
|
UTSW |
1 |
44,153,611 (GRCm39) |
nonsense |
probably null |
|
|
R6755:Poglut2
|
UTSW |
1 |
44,149,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6855:Poglut2
|
UTSW |
1 |
44,149,987 (GRCm39) |
nonsense |
probably null |
|
|
R6955:Poglut2
|
UTSW |
1 |
44,156,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7755:Poglut2
|
UTSW |
1 |
44,157,733 (GRCm39) |
unclassified |
probably benign |
|
|
R8144:Poglut2
|
UTSW |
1 |
44,149,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Poglut2
|
UTSW |
1 |
44,156,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8993:Poglut2
|
UTSW |
1 |
44,151,924 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9023:Poglut2
|
UTSW |
1 |
44,153,925 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9081:Poglut2
|
UTSW |
1 |
44,153,966 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9300:Poglut2
|
UTSW |
1 |
44,156,362 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9634:Poglut2
|
UTSW |
1 |
44,152,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation