Incidental Mutation 'R6388:Ugp2'
| ID |
515640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugp2
|
| Ensembl Gene |
ENSMUSG00000001891 |
| Gene Name |
UDP-glucose pyrophosphorylase 2 |
| Synonyms |
|
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21271138-21321201 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1727 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 21272051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006221]
[ENSMUST00000060895]
[ENSMUST00000102875]
[ENSMUST00000109578]
[ENSMUST00000132017]
|
| AlphaFold |
Q91ZJ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006221
|
| SMART Domains |
Protein: ENSMUSP00000006221
Gene: ENSMUSG00000020128
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:DUF2450
|
198 |
364 |
2.1e-12 |
PFAM |
|
Pfam:Vps54
|
736 |
868 |
3.3e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060895
AA Change: S489P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891
AA Change: S489P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
Pfam:UDPGP
|
43 |
462 |
2.1e-197 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102875
AA Change: S500P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891
AA Change: S500P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
Pfam:UDPGP
|
55 |
473 |
3.5e-201 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109578
|
| SMART Domains |
Protein: ENSMUSP00000105206
Gene: ENSMUSG00000020128
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:DUF2450
|
186 |
352 |
2.3e-12 |
PFAM |
|
Pfam:Vps54
|
723 |
857 |
1.6e-63 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132017
|
| SMART Domains |
Protein: ENSMUSP00000116739
Gene: ENSMUSG00000020128
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2450
|
72 |
238 |
1.4e-12 |
PFAM |
|
Pfam:Vps54
|
573 |
707 |
7.8e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153159
|
| Meta Mutation Damage Score |
0.5475 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
| Other mutations in Ugp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Ugp2
|
APN |
11 |
21,304,345 (GRCm39) |
missense |
probably benign |
|
|
IGL01161:Ugp2
|
APN |
11 |
21,273,273 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01759:Ugp2
|
APN |
11 |
21,303,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03037:Ugp2
|
APN |
11 |
21,282,540 (GRCm39) |
nonsense |
probably null |
|
|
IGL03092:Ugp2
|
APN |
11 |
21,279,722 (GRCm39) |
splice site |
probably benign |
|
|
bittern
|
UTSW |
11 |
21,272,051 (GRCm39) |
splice site |
probably null |
|
|
PIT4377001:Ugp2
|
UTSW |
11 |
21,320,203 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
|
R1538:Ugp2
|
UTSW |
11 |
21,283,791 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1658:Ugp2
|
UTSW |
11 |
21,283,774 (GRCm39) |
missense |
probably benign |
|
|
R1771:Ugp2
|
UTSW |
11 |
21,279,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Ugp2
|
UTSW |
11 |
21,279,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Ugp2
|
UTSW |
11 |
21,278,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2143:Ugp2
|
UTSW |
11 |
21,278,949 (GRCm39) |
missense |
probably benign |
|
|
R2431:Ugp2
|
UTSW |
11 |
21,279,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3888:Ugp2
|
UTSW |
11 |
21,303,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4352:Ugp2
|
UTSW |
11 |
21,279,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5018:Ugp2
|
UTSW |
11 |
21,281,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6125:Ugp2
|
UTSW |
11 |
21,279,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6466:Ugp2
|
UTSW |
11 |
21,278,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6626:Ugp2
|
UTSW |
11 |
21,281,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Ugp2
|
UTSW |
11 |
21,273,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Ugp2
|
UTSW |
11 |
21,283,762 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTAGACTAAAAGCTCATTGCAG -3'
(R):5'- CTCTTAGGAGACAGCAGGACAC -3'
Sequencing Primer
(F):5'- TAGACTAAAAGCTCATTGCAGAAAAC -3'
(R):5'- ACACATCATGTCCCATTATTGGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation