Incidental Mutation 'R3976:Ugt2b1'
ID |
312633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b1
|
Ensembl Gene |
ENSMUSG00000035836 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B1 |
Synonyms |
1300012D20Rik |
MMRRC Submission |
040842-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R3976 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87064498-87074362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 87065534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 502
(V502L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031183]
|
AlphaFold |
Q8R084 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031183
AA Change: V502L
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031183 Gene: ENSMUSG00000035836 AA Change: V502L
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
24 |
527 |
4.7e-260 |
PFAM |
Pfam:Glyco_tran_28_C
|
343 |
454 |
1.7e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177553
|
Meta Mutation Damage Score |
0.2847 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (49/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
Asb4 |
A |
T |
6: 5,390,771 (GRCm39) |
M55L |
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,375,954 (GRCm39) |
S10P |
probably damaging |
Het |
Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
Cyb5r3 |
A |
G |
15: 83,044,330 (GRCm39) |
V180A |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,807,648 (GRCm39) |
T186S |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
Fam90a1a |
G |
A |
8: 22,451,432 (GRCm39) |
D98N |
probably damaging |
Het |
Fbxo16 |
T |
A |
14: 65,524,606 (GRCm39) |
L42Q |
probably damaging |
Het |
Fbxw16 |
A |
G |
9: 109,268,697 (GRCm39) |
V231A |
probably benign |
Het |
Fermt3 |
G |
A |
19: 6,979,792 (GRCm39) |
A447V |
possibly damaging |
Het |
Fignl2 |
A |
G |
15: 100,950,467 (GRCm39) |
L605P |
unknown |
Het |
Gcsam |
T |
G |
16: 45,440,192 (GRCm39) |
N78K |
probably damaging |
Het |
Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
Gm28042 |
C |
T |
2: 119,867,237 (GRCm39) |
H218Y |
probably benign |
Het |
Herpud2 |
A |
G |
9: 25,021,734 (GRCm39) |
V304A |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
Lrp3 |
T |
C |
7: 34,903,530 (GRCm39) |
D251G |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
Opn4 |
C |
T |
14: 34,319,066 (GRCm39) |
R173H |
probably benign |
Het |
Or2k2 |
A |
G |
4: 58,785,164 (GRCm39) |
L186P |
probably damaging |
Het |
Or4f14 |
C |
T |
2: 111,742,951 (GRCm39) |
G108D |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
Rab18 |
T |
A |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
Rel |
A |
G |
11: 23,692,939 (GRCm39) |
S365P |
probably benign |
Het |
Rhbg |
C |
A |
3: 88,151,843 (GRCm39) |
G383V |
probably damaging |
Het |
Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
Runx2 |
T |
C |
17: 44,920,966 (GRCm39) |
T339A |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,506,182 (GRCm39) |
E3455G |
possibly damaging |
Het |
Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
Spg7 |
A |
G |
8: 123,806,187 (GRCm39) |
D299G |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,878,742 (GRCm39) |
|
noncoding transcript |
Het |
Srcap |
A |
G |
7: 127,148,411 (GRCm39) |
T1859A |
probably benign |
Het |
Suox |
A |
G |
10: 128,506,906 (GRCm39) |
V374A |
probably damaging |
Het |
Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
Tubal3 |
C |
T |
13: 3,982,946 (GRCm39) |
S242L |
probably benign |
Het |
|
Other mutations in Ugt2b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Ugt2b1
|
APN |
5 |
87,073,817 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00556:Ugt2b1
|
APN |
5 |
87,074,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02591:Ugt2b1
|
APN |
5 |
87,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02795:Ugt2b1
|
APN |
5 |
87,065,560 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02993:Ugt2b1
|
APN |
5 |
87,069,850 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03057:Ugt2b1
|
APN |
5 |
87,074,200 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03084:Ugt2b1
|
APN |
5 |
87,074,243 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4531001:Ugt2b1
|
UTSW |
5 |
87,074,342 (GRCm39) |
missense |
probably benign |
0.00 |
R0125:Ugt2b1
|
UTSW |
5 |
87,073,961 (GRCm39) |
missense |
probably benign |
|
R0480:Ugt2b1
|
UTSW |
5 |
87,074,315 (GRCm39) |
missense |
probably benign |
0.00 |
R0551:Ugt2b1
|
UTSW |
5 |
87,073,943 (GRCm39) |
missense |
probably benign |
0.01 |
R0601:Ugt2b1
|
UTSW |
5 |
87,065,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0626:Ugt2b1
|
UTSW |
5 |
87,073,720 (GRCm39) |
missense |
probably null |
0.13 |
R1238:Ugt2b1
|
UTSW |
5 |
87,073,988 (GRCm39) |
missense |
probably benign |
0.00 |
R1623:Ugt2b1
|
UTSW |
5 |
87,074,267 (GRCm39) |
missense |
probably benign |
0.25 |
R1919:Ugt2b1
|
UTSW |
5 |
87,073,859 (GRCm39) |
missense |
probably benign |
0.00 |
R1930:Ugt2b1
|
UTSW |
5 |
87,065,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Ugt2b1
|
UTSW |
5 |
87,065,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Ugt2b1
|
UTSW |
5 |
87,065,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R3973:Ugt2b1
|
UTSW |
5 |
87,065,534 (GRCm39) |
missense |
probably benign |
0.19 |
R4115:Ugt2b1
|
UTSW |
5 |
87,074,273 (GRCm39) |
missense |
probably damaging |
0.99 |
R5018:Ugt2b1
|
UTSW |
5 |
87,073,821 (GRCm39) |
nonsense |
probably null |
|
R5043:Ugt2b1
|
UTSW |
5 |
87,065,503 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5765:Ugt2b1
|
UTSW |
5 |
87,067,265 (GRCm39) |
missense |
probably benign |
0.32 |
R5959:Ugt2b1
|
UTSW |
5 |
87,073,813 (GRCm39) |
missense |
probably benign |
0.42 |
R5985:Ugt2b1
|
UTSW |
5 |
87,067,527 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6791:Ugt2b1
|
UTSW |
5 |
87,067,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Ugt2b1
|
UTSW |
5 |
87,065,578 (GRCm39) |
missense |
not run |
|
R7414:Ugt2b1
|
UTSW |
5 |
87,073,693 (GRCm39) |
missense |
probably damaging |
0.97 |
R8519:Ugt2b1
|
UTSW |
5 |
87,074,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R9473:Ugt2b1
|
UTSW |
5 |
87,065,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9540:Ugt2b1
|
UTSW |
5 |
87,069,771 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0017:Ugt2b1
|
UTSW |
5 |
87,074,188 (GRCm39) |
missense |
probably benign |
|
X0027:Ugt2b1
|
UTSW |
5 |
87,073,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGTTTCAGAGGGAAGGCACC -3'
(R):5'- AGTTGCATGCATTGTCCTTTCAG -3'
Sequencing Primer
(F):5'- GGGAAGGCACCTGGGAC -3'
(R):5'- GTCCTTTCAGCTATAAAGAGAATGCC -3'
|
Posted On |
2015-04-30 |