|Institutional Source||Beutler Lab|
|Gene Name||G protein-coupled estrogen receptor 1|
|Synonyms||FEG-1, Gpr30, Ceprl, 6330420K13Rik, Gper, GPCR-Br, CMKRL2|
|Essential gene?||Possibly non essential (E-score: 0.283)|
|Stock #||R6836 (G1)|
|Chromosomal Location||139423151-139427800 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 139426680 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 260 (M260K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080370 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066052] [ENSMUST00000066211] [ENSMUST00000198474]|
AA Change: M260K
PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: M260K
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum. The protein binds estrogen, resulting in intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased thymic atrophy, insulin, and glucagon responses following treatment with PGE2. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gper1||
(F):5'- TCATCTGGATGGCCTCAGTG -3'
(R):5'- TCAGGCAGCTGTTGGAGAAG -3'
(F):5'- TTCACAGCGGTGCACCTG -3'
(R):5'- AGGCTGCAAGGTTGACTATG -3'