Incidental Mutation 'IGL00480:Uts2r'
ID |
4452 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Uts2r
|
Ensembl Gene |
ENSMUSG00000039321 |
Gene Name |
urotensin 2 receptor |
Synonyms |
urotensin II receptor, Gpr14, UTR2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
IGL00480
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
121051097-121052799 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121051172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 12
(M12K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039044]
|
AlphaFold |
Q8VIH9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039044
AA Change: M12K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000046920 Gene: ENSMUSG00000039321 AA Change: M12K
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
67 |
316 |
7.4e-45 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display a selective loss of urotensin-II contractile activity in isolated aortae. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
Cdc6 |
T |
C |
11: 98,799,597 (GRCm39) |
V68A |
probably benign |
Het |
Ceacam23 |
T |
A |
7: 17,644,622 (GRCm39) |
S580T |
probably benign |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Gtf3c1 |
C |
T |
7: 125,243,430 (GRCm39) |
V1821I |
probably benign |
Het |
Haus3 |
T |
C |
5: 34,325,272 (GRCm39) |
E129G |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,235,355 (GRCm39) |
|
probably benign |
Het |
Pabpc1l |
G |
A |
2: 163,884,237 (GRCm39) |
V325M |
probably damaging |
Het |
Pou6f1 |
A |
G |
15: 100,477,928 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
A |
T |
6: 5,158,195 (GRCm39) |
D1201V |
possibly damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,149,452 (GRCm39) |
|
probably benign |
Het |
Scn5a |
G |
T |
9: 119,346,604 (GRCm39) |
P1016Q |
possibly damaging |
Het |
Selenot |
T |
A |
3: 58,493,503 (GRCm39) |
|
probably benign |
Het |
Smyd2 |
C |
T |
1: 189,632,043 (GRCm39) |
R107Q |
probably damaging |
Het |
Tgoln1 |
T |
C |
6: 72,593,073 (GRCm39) |
K136E |
probably benign |
Het |
Trio |
T |
C |
15: 27,912,829 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,225,303 (GRCm39) |
I645T |
probably damaging |
Het |
Zfp772 |
T |
C |
7: 7,207,115 (GRCm39) |
N192S |
probably benign |
Het |
|
Other mutations in Uts2r |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02066:Uts2r
|
APN |
11 |
121,051,523 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02483:Uts2r
|
APN |
11 |
121,051,213 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0144:Uts2r
|
UTSW |
11 |
121,052,291 (GRCm39) |
missense |
probably benign |
0.02 |
R1625:Uts2r
|
UTSW |
11 |
121,052,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Uts2r
|
UTSW |
11 |
121,052,095 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4780:Uts2r
|
UTSW |
11 |
121,051,705 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5893:Uts2r
|
UTSW |
11 |
121,052,105 (GRCm39) |
missense |
probably benign |
0.20 |
R6766:Uts2r
|
UTSW |
11 |
121,052,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R6966:Uts2r
|
UTSW |
11 |
121,052,213 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7185:Uts2r
|
UTSW |
11 |
121,051,706 (GRCm39) |
missense |
probably benign |
0.13 |
R7329:Uts2r
|
UTSW |
11 |
121,051,558 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7594:Uts2r
|
UTSW |
11 |
121,052,191 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7777:Uts2r
|
UTSW |
11 |
121,052,279 (GRCm39) |
missense |
probably benign |
|
R7901:Uts2r
|
UTSW |
11 |
121,052,234 (GRCm39) |
missense |
probably benign |
0.26 |
R7999:Uts2r
|
UTSW |
11 |
121,051,495 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8358:Uts2r
|
UTSW |
11 |
121,051,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R8937:Uts2r
|
UTSW |
11 |
121,051,795 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9797:Uts2r
|
UTSW |
11 |
121,051,518 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Uts2r
|
UTSW |
11 |
121,051,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-04-20 |