Incidental Mutation 'IGL03185:Poglut2'
| ID |
412425 |
| 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 # |
IGL03185
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
44145706-44157968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44156359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 76
(S76L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027213]
[ENSMUST00000035991]
[ENSMUST00000065767]
[ENSMUST00000114709]
[ENSMUST00000129068]
[ENSMUST00000152643]
[ENSMUST00000155917]
|
| AlphaFold |
Q9JHP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027213
AA Change: S76L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: S76L
| 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 benign
Transcript: ENSMUST00000035991
|
| SMART Domains |
Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
Blast:XPGN
|
456 |
501 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065767
AA Change: S76L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: S76L
| 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 |
probably benign
Transcript: ENSMUST00000114709
|
| SMART Domains |
Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
Blast:XPGN
|
456 |
501 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141125
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152643
AA Change: S76L
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047
AA Change: S76L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
28 |
133 |
9.21e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155917
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,255,212 (GRCm39) |
D77G |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Babam2 |
T |
C |
5: 31,859,376 (GRCm39) |
I27T |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,339,482 (GRCm39) |
E442G |
probably damaging |
Het |
| Ccdc92 |
A |
G |
5: 124,913,014 (GRCm39) |
Y172H |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,642,824 (GRCm39) |
D187E |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,896,653 (GRCm39) |
F1721I |
probably damaging |
Het |
| Corin |
C |
T |
5: 72,490,124 (GRCm39) |
G542D |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,803 (GRCm39) |
D587N |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,894,707 (GRCm39) |
Y3424C |
probably damaging |
Het |
| Echdc1 |
T |
A |
10: 29,207,836 (GRCm39) |
F127I |
possibly damaging |
Het |
| F13b |
T |
A |
1: 139,444,124 (GRCm39) |
V486E |
probably benign |
Het |
| Fkbp15 |
C |
T |
4: 62,250,423 (GRCm39) |
|
probably null |
Het |
| Glt8d2 |
T |
A |
10: 82,498,110 (GRCm39) |
I100F |
probably damaging |
Het |
| Gmip |
C |
T |
8: 70,262,433 (GRCm39) |
P10L |
probably benign |
Het |
| Grm7 |
T |
C |
6: 110,623,183 (GRCm39) |
S119P |
possibly damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,911 (GRCm39) |
T58A |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,494,686 (GRCm39) |
I289T |
probably damaging |
Het |
| Mptx2 |
A |
T |
1: 173,102,356 (GRCm39) |
V111D |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,416,559 (GRCm39) |
E3168D |
possibly damaging |
Het |
| Mylk3 |
C |
A |
8: 86,053,833 (GRCm39) |
V695F |
probably damaging |
Het |
| Or11j4 |
C |
A |
14: 50,630,855 (GRCm39) |
T214K |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,033,034 (GRCm39) |
V258E |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,056,332 (GRCm39) |
I1115K |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,826,229 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pprc1 |
C |
A |
19: 46,058,186 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
| Prss50 |
A |
G |
9: 110,687,279 (GRCm39) |
Y74C |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,422,157 (GRCm39) |
L80P |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,084,662 (GRCm39) |
I120V |
probably benign |
Het |
| Sgca |
T |
C |
11: 94,861,610 (GRCm39) |
M212V |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
| Slc30a9 |
A |
G |
5: 67,490,406 (GRCm39) |
R226G |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,864,412 (GRCm39) |
D336G |
possibly damaging |
Het |
| Slfn8 |
T |
C |
11: 82,908,333 (GRCm39) |
H70R |
probably benign |
Het |
| Stoml2 |
T |
C |
4: 43,029,065 (GRCm39) |
N269S |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,872,305 (GRCm39) |
E142G |
probably damaging |
Het |
| Thbs2 |
G |
A |
17: 14,901,672 (GRCm39) |
Q436* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,020,680 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
| Zfp446 |
G |
T |
7: 12,712,925 (GRCm39) |
V88F |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,011,575 (GRCm39) |
N131S |
possibly damaging |
Het |
|
| Other mutations in Poglut2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01461:Poglut2
|
APN |
1 |
44,150,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation