Incidental Mutation 'R6955:Poglut2'
| ID |
541400 |
| Institutional Source |
Beutler Lab
|
| 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: 0.369)
|
| Stock # |
R6955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44145706-44157968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44156257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 110
(L110Q)
|
| 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 damaging
Transcript: ENSMUST00000027213
AA Change: L110Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: L110Q
| 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 |
possibly damaging
Transcript: ENSMUST00000065767
AA Change: L110Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: L110Q
| 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 |
probably damaging
Transcript: ENSMUST00000152643
AA Change: L110Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047
AA Change: L110Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
28 |
133 |
9.21e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155917
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,244,307 (GRCm39) |
F2057I |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,219 (GRCm39) |
T108A |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,727,004 (GRCm39) |
W70R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,607,030 (GRCm39) |
T963A |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,453 (GRCm39) |
M1T |
probably null |
Het |
| Chd2 |
A |
G |
7: 73,125,171 (GRCm39) |
V62A |
probably damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,858,864 (GRCm39) |
L87Q |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,414,668 (GRCm39) |
M500V |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,075,253 (GRCm39) |
L498P |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,059,639 (GRCm39) |
C682Y |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,292,894 (GRCm39) |
S595T |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Inf2 |
T |
C |
12: 112,577,165 (GRCm39) |
V1003A |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,340,441 (GRCm39) |
E2651G |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,040,506 (GRCm39) |
W735R |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,211,070 (GRCm39) |
N798S |
probably benign |
Het |
| Klb |
T |
A |
5: 65,536,431 (GRCm39) |
L587* |
probably null |
Het |
| Krt82 |
T |
A |
15: 101,451,284 (GRCm39) |
D375V |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,384 (GRCm39) |
V132D |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,084,417 (GRCm39) |
I99V |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Mcam |
T |
A |
9: 44,050,566 (GRCm39) |
I286N |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,901,598 (GRCm39) |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,064,909 (GRCm39) |
E197G |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,036,301 (GRCm39) |
Y702N |
probably damaging |
Het |
| Or4p4 |
T |
A |
2: 88,483,348 (GRCm39) |
I284N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,105,305 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
A |
G |
15: 12,401,550 (GRCm39) |
S767P |
probably damaging |
Het |
| Plcd1 |
A |
T |
9: 118,900,924 (GRCm39) |
N765K |
probably benign |
Het |
| Rnf208 |
T |
C |
2: 25,133,414 (GRCm39) |
V36A |
probably benign |
Het |
| Rpl5 |
G |
A |
5: 108,049,912 (GRCm39) |
R33Q |
probably benign |
Het |
| Selp |
A |
T |
1: 163,972,478 (GRCm39) |
I706F |
possibly damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,487,991 (GRCm39) |
|
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,294,344 (GRCm39) |
I328V |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,931,642 (GRCm39) |
E604K |
possibly damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,737,782 (GRCm39) |
Y733C |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 85,911,353 (GRCm39) |
V237A |
possibly damaging |
Het |
| Uimc1 |
T |
A |
13: 55,188,359 (GRCm39) |
R567W |
possibly damaging |
Het |
| Wbp4 |
A |
T |
14: 79,709,800 (GRCm39) |
I145N |
probably benign |
Het |
| Xbp1 |
A |
G |
11: 5,472,018 (GRCm39) |
E32G |
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGGTGTGTCCTCAAGG -3'
(R):5'- GAGAATAAGTAGCGTGCATTTGATC -3'
Sequencing Primer
(F):5'- TGTGTCCTCAAGGAGCAAC -3'
(R):5'- GCGTGCATTTGATCTTAAAAATAACC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation