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 |
Incidental Mutation