|Institutional Source||Beutler Lab|
|Gene Name||vasoactive intestinal peptide receptor 1|
|Synonyms||VPAC1, VIP-R1, VIP receptor subtype 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7189 (G1)|
|Chromosomal Location||121642716-121672954 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 121664554 bp|
|Amino Acid Change||Glutamine to Lysine at position 224 (Q224K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035115 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035115]|
|Predicted Effect||probably damaging
AA Change: Q224K
PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: Q224K
|Meta Mutation Damage Score||0.6479|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality associated with severe neonatal growth failure, enlarged cecum, intestinal hemorrhage, and enterocyte hyperproliferation in addition to disorganized islets and impaired glucose homeostasisin surviving mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vipr1||
(F):5'- CAGGTTTGAAAAGCCTGGC -3'
(R):5'- ACGCATTCTGGGGACATTC -3'
(F):5'- TTTGAAAAGCCTGGCTGCAAGC -3'
(R):5'- ACCTCATAAGTAGGCTAGGGTTGTAC -3'