Incidental Mutation 'R6650:Ugt2a2'
| ID |
527735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2a2
|
| Ensembl Gene |
ENSMUSG00000029268 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide A2 |
| Synonyms |
|
| MMRRC Submission |
044771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R6650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87607352-87630117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87622459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 380
(Y380H)
|
| 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: Y170H
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: Y170H
| 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 damaging
Transcript: ENSMUST00000201519
AA Change: Y380H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: Y380H
| 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 |
0.2980 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
| Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
| Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
| Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
| Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
| Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
| Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
| Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
| Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
| Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
| Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
| Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
| Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
| Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
| Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
| Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
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 |
|
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 |
|
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'- TGAATTCCATTCTCCCCAGTAG -3'
(R):5'- AACGCCTCTCACAATGTGG -3'
Sequencing Primer
(F):5'- ACATCTGGTCAGTGAGCT -3'
(R):5'- TGTGGACTTTCTACAAAGAACTAGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation