Incidental Mutation 'IGL00480:Uts2r'
ID4452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uts2r
Ensembl Gene ENSMUSG00000039321
Gene Nameurotensin 2 receptor
SynonymsUTR2, urotensin II receptor, Gpr14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL00480
Quality Score
Status
Chromosome11
Chromosomal Location121160271-121161973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121160346 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 12 (M12K)
Ref Sequence ENSEMBL: ENSMUSP00000046920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039044]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c A T 2: 58,315,855 V31E probably damaging Het
Cdc6 T C 11: 98,908,771 V68A probably benign Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Gm5155 T A 7: 17,910,697 S580T probably benign Het
Gtf3c1 C T 7: 125,644,258 V1821I probably benign Het
Haus3 T C 5: 34,167,928 E129G probably benign Het
Ogfr T C 2: 180,593,562 probably benign Het
Pabpc1l G A 2: 164,042,317 V325M probably damaging Het
Pou6f1 A G 15: 100,580,047 probably benign Het
Ppp1r9a A T 6: 5,158,195 D1201V possibly damaging Het
Ppp6r2 A G 15: 89,265,249 probably benign Het
Scn5a G T 9: 119,517,538 P1016Q possibly damaging Het
Selenot T A 3: 58,586,082 probably benign Het
Smyd2 C T 1: 189,899,846 R107Q probably damaging Het
Tgoln1 T C 6: 72,616,090 K136E probably benign Het
Trio T C 15: 27,912,743 probably benign Het
Usp24 T C 4: 106,368,106 I645T probably damaging Het
Zfp772 T C 7: 7,204,116 N192S probably benign Het
Other mutations in Uts2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Uts2r APN 11 121160697 missense probably damaging 1.00
IGL02483:Uts2r APN 11 121160387 missense possibly damaging 0.49
R0144:Uts2r UTSW 11 121161465 missense probably benign 0.02
R1625:Uts2r UTSW 11 121161207 missense probably damaging 1.00
R1765:Uts2r UTSW 11 121161269 missense possibly damaging 0.76
R4780:Uts2r UTSW 11 121160879 missense possibly damaging 0.85
R5893:Uts2r UTSW 11 121161279 missense probably benign 0.20
R6766:Uts2r UTSW 11 121161207 missense probably damaging 1.00
R6966:Uts2r UTSW 11 121161387 missense possibly damaging 0.92
R7185:Uts2r UTSW 11 121160880 missense probably benign 0.13
R7329:Uts2r UTSW 11 121160732 missense possibly damaging 0.95
Posted On2012-04-20