Incidental Mutation 'R0841:Ugt2a2'
| ID |
77158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2a2
|
| Ensembl Gene |
ENSMUSG00000029268 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide A2 |
| Synonyms |
|
| MMRRC Submission |
039020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R0841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87607352-87630117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87622648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 317
(T317A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079811]
[ENSMUST00000144144]
[ENSMUST00000147854]
[ENSMUST00000201519]
|
| AlphaFold |
Q6PDD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079811
AA Change: T107A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: T107A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
22 |
525 |
3.5e-233 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
332 |
453 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144144
|
| SMART Domains |
Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
1 |
277 |
2.3e-168 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
100 |
203 |
7.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147854
|
| SMART Domains |
Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
21 |
525 |
1.2e-235 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
332 |
453 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201519
AA Change: T317A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: T317A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
21 |
240 |
2.3e-54 |
PFAM |
|
Pfam:UDPGT
|
236 |
499 |
2.9e-75 |
PFAM |
|
Pfam:UDPGT
|
498 |
691 |
2.6e-116 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
512 |
618 |
3.1e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.1%
|
| Validation Efficiency |
94% (45/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
A |
4: 73,860,986 (GRCm39) |
M205L |
probably benign |
Het |
| Aass |
A |
T |
6: 23,075,810 (GRCm39) |
C776S |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
| Arhgap9 |
T |
A |
10: 127,165,508 (GRCm39) |
M639K |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
| Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
| Eml3 |
G |
A |
19: 8,915,049 (GRCm39) |
M635I |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,050,147 (GRCm39) |
K4003T |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,863,635 (GRCm39) |
P4S |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 130,373,737 (GRCm39) |
|
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
| Gm9726 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
C |
A |
10: 56,621,424 (GRCm39) |
L29M |
unknown |
Het |
| Gm9956 |
T |
A |
10: 56,621,425 (GRCm39) |
L29Q |
unknown |
Het |
| Hddc3 |
T |
A |
7: 79,995,401 (GRCm39) |
S139T |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
| Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
A |
G |
7: 142,661,189 (GRCm39) |
K32E |
probably benign |
Het |
| Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,752,032 (GRCm39) |
V4590A |
probably benign |
Het |
| Nip7 |
C |
A |
8: 107,784,007 (GRCm39) |
H82Q |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
| Or52l1 |
A |
T |
7: 104,830,061 (GRCm39) |
V168E |
probably damaging |
Het |
| Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,309,186 (GRCm39) |
V1131A |
probably damaging |
Het |
| Prl7a1 |
T |
A |
13: 27,826,393 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
C |
A |
19: 5,704,835 (GRCm39) |
A587S |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,275,063 (GRCm39) |
I41F |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
| Smg1 |
A |
T |
7: 117,742,524 (GRCm39) |
L3230Q |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,780 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,121,209 (GRCm39) |
|
probably benign |
Het |
| Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
| Trp53rkb |
T |
C |
2: 166,637,430 (GRCm39) |
C129R |
probably benign |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,214 (GRCm39) |
S121N |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,267,749 (GRCm39) |
T68A |
possibly damaging |
Het |
| Zfp7 |
G |
A |
15: 76,775,704 (GRCm39) |
C582Y |
probably damaging |
Het |
|
| Other mutations in Ugt2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0131:Ugt2a2
|
UTSW |
5 |
87,622,720 (GRCm39) |
nonsense |
probably null |
|
|
R0132:Ugt2a2
|
UTSW |
5 |
87,622,720 (GRCm39) |
nonsense |
probably null |
|
|
R0233:Ugt2a2
|
UTSW |
5 |
87,622,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Ugt2a2
|
UTSW |
5 |
87,612,007 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0732:Ugt2a2
|
UTSW |
5 |
87,608,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Ugt2a2
|
UTSW |
5 |
87,613,427 (GRCm39) |
splice site |
probably null |
|
|
R1433:Ugt2a2
|
UTSW |
5 |
87,611,965 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1552:Ugt2a2
|
UTSW |
5 |
87,609,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1795:Ugt2a2
|
UTSW |
5 |
87,622,315 (GRCm39) |
missense |
probably benign |
|
|
R1986:Ugt2a2
|
UTSW |
5 |
87,608,438 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2967:Ugt2a2
|
UTSW |
5 |
87,622,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3053:Ugt2a2
|
UTSW |
5 |
87,622,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Ugt2a2
|
UTSW |
5 |
87,610,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Ugt2a2
|
UTSW |
5 |
87,622,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Ugt2a2
|
UTSW |
5 |
87,612,040 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5725:Ugt2a2
|
UTSW |
5 |
87,622,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6243:Ugt2a2
|
UTSW |
5 |
87,610,818 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6502:Ugt2a2
|
UTSW |
5 |
87,608,318 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6650:Ugt2a2
|
UTSW |
5 |
87,622,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Ugt2a2
|
UTSW |
5 |
87,608,255 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7122:Ugt2a2
|
UTSW |
5 |
87,608,255 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7134:Ugt2a2
|
UTSW |
5 |
87,608,435 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7205:Ugt2a2
|
UTSW |
5 |
87,608,468 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7476:Ugt2a2
|
UTSW |
5 |
87,622,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Ugt2a2
|
UTSW |
5 |
87,622,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8222:Ugt2a2
|
UTSW |
5 |
87,608,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Ugt2a2
|
UTSW |
5 |
87,612,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Ugt2a2
|
UTSW |
5 |
87,608,270 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9119:Ugt2a2
|
UTSW |
5 |
87,610,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Ugt2a2
|
UTSW |
5 |
87,613,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Ugt2a2
|
UTSW |
5 |
87,608,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Ugt2a2
|
UTSW |
5 |
87,609,940 (GRCm39) |
nonsense |
probably null |
|
|
R9556:Ugt2a2
|
UTSW |
5 |
87,609,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGAATTTTCCCACAATGCCTC -3'
(R):5'- CAGTGTGACTGTACTGGCTCCATC -3'
Sequencing Primer
(F):5'- ATGCCTCTCCACTGTAAAGG -3'
(R):5'- TGTACTGGCTCCATCAGAAAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation