Incidental Mutation 'R5098:Ugt2a2'
ID |
452803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2a2
|
Ensembl Gene |
ENSMUSG00000029268 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide A2 |
Synonyms |
|
MMRRC Submission |
042687-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R5098 (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 87612040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 290
(E290G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079811]
[ENSMUST00000144144]
[ENSMUST00000147854]
[ENSMUST00000201519]
|
AlphaFold |
Q6PDD0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079811
AA Change: E290G
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000078740 Gene: ENSMUSG00000029268 AA Change: E290G
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
AA Change: E42G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000114842 Gene: ENSMUSG00000029268 AA Change: E42G
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 |
possibly damaging
Transcript: ENSMUST00000147854
AA Change: E290G
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114583 Gene: ENSMUSG00000106677 AA Change: E290G
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
|
SMART Domains |
Protein: ENSMUSP00000143986 Gene: ENSMUSG00000107180
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 |
0.2550 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,847,944 (GRCm39) |
I784V |
probably benign |
Het |
Agxt |
A |
G |
1: 93,065,029 (GRCm39) |
H146R |
probably benign |
Het |
Art5 |
A |
G |
7: 101,747,177 (GRCm39) |
F201L |
probably damaging |
Het |
Bcl2a1b |
T |
A |
9: 89,081,432 (GRCm39) |
M7K |
probably benign |
Het |
Card10 |
G |
A |
15: 78,660,917 (GRCm39) |
A1030V |
probably benign |
Het |
Ccdc66 |
G |
A |
14: 27,220,750 (GRCm39) |
T58M |
probably damaging |
Het |
Cd72 |
C |
T |
4: 43,452,610 (GRCm39) |
G74R |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,398,113 (GRCm39) |
K749R |
probably damaging |
Het |
Commd3 |
A |
T |
2: 18,678,988 (GRCm39) |
T102S |
possibly damaging |
Het |
Cyp2f2 |
A |
G |
7: 26,829,304 (GRCm39) |
T270A |
possibly damaging |
Het |
Dclre1b |
A |
G |
3: 103,716,452 (GRCm39) |
|
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,061,459 (GRCm39) |
D380E |
probably damaging |
Het |
Dhx58 |
T |
C |
11: 100,585,999 (GRCm39) |
E674G |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,640,101 (GRCm39) |
S128P |
probably damaging |
Het |
Ecpas |
T |
C |
4: 58,877,048 (GRCm39) |
D129G |
probably damaging |
Het |
Exoc5 |
T |
C |
14: 49,286,304 (GRCm39) |
T108A |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 38,942,438 (GRCm39) |
S444P |
probably benign |
Het |
Gm3327 |
A |
T |
14: 44,362,292 (GRCm39) |
I64F |
unknown |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gpr15 |
T |
A |
16: 58,538,890 (GRCm39) |
R66S |
probably damaging |
Het |
Hmga1b |
T |
C |
11: 120,654,018 (GRCm39) |
S102P |
probably benign |
Het |
Kat6b |
G |
A |
14: 21,669,083 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
A |
G |
13: 47,216,467 (GRCm39) |
Y279C |
probably damaging |
Het |
Krtap9-3 |
C |
A |
11: 99,488,816 (GRCm39) |
C22F |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,115,185 (GRCm39) |
D817V |
probably damaging |
Het |
Mybpc1 |
T |
C |
10: 88,381,926 (GRCm39) |
D588G |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2t6 |
A |
G |
14: 14,175,683 (GRCm38) |
V133A |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,420,976 (GRCm39) |
I31V |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,637,858 (GRCm39) |
D128G |
probably damaging |
Het |
Pgap6 |
A |
T |
17: 26,337,902 (GRCm39) |
N429Y |
probably damaging |
Het |
Ppil6 |
A |
G |
10: 41,366,616 (GRCm39) |
E47G |
probably null |
Het |
Rad17 |
A |
T |
13: 100,754,154 (GRCm39) |
*689K |
probably null |
Het |
Scin |
A |
T |
12: 40,127,541 (GRCm39) |
Y416* |
probably null |
Het |
Serf1 |
A |
G |
13: 100,245,575 (GRCm39) |
T18A |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,906,891 (GRCm39) |
|
probably benign |
Het |
Slc39a8 |
C |
A |
3: 135,563,918 (GRCm39) |
N254K |
probably benign |
Het |
Spint3 |
A |
G |
2: 164,411,821 (GRCm39) |
F63L |
probably damaging |
Het |
Suox |
A |
T |
10: 128,507,027 (GRCm39) |
S334T |
probably damaging |
Het |
Tas2r119 |
A |
G |
15: 32,178,228 (GRCm39) |
M265V |
probably benign |
Het |
Tmem126b |
A |
G |
7: 90,118,850 (GRCm39) |
L146P |
probably damaging |
Het |
Trpc3 |
G |
T |
3: 36,717,047 (GRCm39) |
D330E |
probably benign |
Het |
Ugt2b37 |
T |
A |
5: 87,390,812 (GRCm39) |
T352S |
probably damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,930 (GRCm39) |
V249A |
probably damaging |
Het |
Zc3h18 |
A |
G |
8: 123,113,608 (GRCm39) |
D200G |
probably damaging |
Het |
Zfp652 |
T |
C |
11: 95,643,762 (GRCm39) |
V140A |
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 |
R0841:Ugt2a2
|
UTSW |
5 |
87,622,648 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TCTGCAGATACCACTACCAGTC -3'
(R):5'- CAGTGCTTTGGTGTCACATTC -3'
Sequencing Primer
(F):5'- AGTCTCTCTATTGCTAGTCTGAAG -3'
(R):5'- GGTGTCACATTCTTCTTGAACACAC -3'
|
Posted On |
2017-01-06 |