|Institutional Source||Beutler Lab|
|Gene Name||neuropeptide S receptor 1|
|Synonyms||VRR1, PGR14, 9330128H10Rik, Gpr154|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R4088 (G1)|
|Chromosomal Location||24097996-24316398 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 24313769 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 358 (E358K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056432 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059650] [ENSMUST00000154644]|
|Predicted Effect||possibly damaging
AA Change: E358K
PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: E358K
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0722|
|Coding Region Coverage||
|Validation Efficiency||96% (55/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased airway resistance when treated with high concentrations of U-46619. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Npsr1||
(F):5'- AGGTTCATTTGCTCTAGCCTAAG -3'
(R):5'- GCTAGTGCGTGAATTGCAGG -3'
(F):5'- CTCTAGCCTAAGAGCATCTGATC -3'
(R):5'- GCATGCCCTCATTAGAAAGTTGGC -3'