Incidental Mutation 'R5171:Gper1'
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Institutional Source Beutler Lab
Gene Symbol Gper1
Ensembl Gene ENSMUSG00000053647
Gene NameG protein-coupled estrogen receptor 1
SynonymsFEG-1, Gpr30, Ceprl, 6330420K13Rik, Gper, GPCR-Br, CMKRL2
MMRRC Submission 042751-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #R5171 (G1)
Quality Score225
Status Validated
Chromosomal Location139423151-139427800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 139426658 bp
Amino Acid Change Arginine to Cysteine at position 253 (R253C)
Ref Sequence ENSEMBL: ENSMUSP00000080370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066052] [ENSMUST00000066211] [ENSMUST00000198474]
Predicted Effect probably benign
Transcript: ENSMUST00000066052
SMART Domains Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553

low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 103 165 3e-26 PFAM
low complexity region 184 194 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000066211
AA Change: R253C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080370
Gene: ENSMUSG00000053647
AA Change: R253C

Pfam:7tm_1 76 324 2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197512
Predicted Effect probably benign
Transcript: ENSMUST00000198474
SMART Domains Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553

low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 102 141 9e-12 PFAM
Meta Mutation Damage Score 0.0292 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
MGI Phenotype 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
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,742,847 Q269K probably benign Het
Acad9 T A 3: 36,074,398 I136N possibly damaging Het
Adtrp A G 13: 41,777,563 S183P probably damaging Het
Atp11b C T 3: 35,832,937 T690I probably damaging Het
Bcl2l12 G A 7: 44,991,394 probably benign Het
Btnl7-ps T A 17: 34,533,529 noncoding transcript Het
Ccl12 T C 11: 82,102,634 C33R probably damaging Het
Cdc25a T A 9: 109,877,161 S57R probably benign Het
Coro2a T A 4: 46,542,372 probably benign Het
Cpne6 T C 14: 55,512,148 V55A possibly damaging Het
Ddn A G 15: 98,806,326 S362P possibly damaging Het
Dmpk C G 7: 19,088,019 L301V probably benign Het
Dnase1l1 C T X: 74,277,038 probably null Het
Donson A G 16: 91,681,293 V258A possibly damaging Het
Gm3336 G A 8: 70,721,875 V163I probably benign Het
Gm8765 A T 13: 50,700,378 T91S possibly damaging Het
Gpsm1 T A 2: 26,327,464 probably benign Het
Hip1 A G 5: 135,440,302 S251P probably damaging Het
Ifi214 A G 1: 173,526,634 S157P possibly damaging Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Kntc1 T C 5: 123,799,844 V1535A probably benign Het
Mbd3l1 A G 9: 18,485,134 N185S probably benign Het
Mnx1 T C 5: 29,474,853 Q252R unknown Het
Mroh3 A T 1: 136,191,656 L463Q possibly damaging Het
Myom1 T C 17: 71,099,972 V1030A possibly damaging Het
Olfr1134 T G 2: 87,656,544 I126L possibly damaging Het
Olfr411 T C 11: 74,346,814 T257A probably benign Het
Olfr988 T C 2: 85,353,770 D52G probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Ranbp17 A G 11: 33,217,419 Y1015H probably benign Het
Rasal1 C T 5: 120,663,764 T256I probably benign Het
Rexo5 T A 7: 119,823,779 I278N probably damaging Het
Rims2 T A 15: 39,437,103 S77T probably damaging Het
Sdk2 C T 11: 113,850,982 A804T probably benign Het
Slc24a2 T A 4: 86,996,634 I589F probably benign Het
Slc25a38 T A 9: 120,122,115 I217K probably benign Het
Slc5a7 T C 17: 54,276,676 T529A probably benign Het
Spata22 T A 11: 73,336,208 S83T probably damaging Het
Stac2 A T 11: 98,043,498 C127S possibly damaging Het
Tep1 T C 14: 50,824,802 H2531R probably benign Het
Tmem151a G T 19: 5,082,033 R382S probably damaging Het
Trim60 T C 8: 65,000,524 T358A probably benign Het
Unc13c T A 9: 73,757,954 M1048L probably benign Het
Usp29 T C 7: 6,962,075 S306P probably damaging Het
Zfp26 T C 9: 20,444,907 K35R probably benign Het
Zfp462 T A 4: 55,016,986 probably null Het
Other mutations in Gper1
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0040:Gper1 UTSW 5 139426488 missense probably benign 0.00
R1233:Gper1 UTSW 5 139426602 missense probably damaging 1.00
R1785:Gper1 UTSW 5 139426722 missense probably damaging 1.00
R1786:Gper1 UTSW 5 139426722 missense probably damaging 1.00
R2078:Gper1 UTSW 5 139426133 missense probably benign 0.30
R3827:Gper1 UTSW 5 139427000 missense probably benign 0.10
R4604:Gper1 UTSW 5 139426725 missense probably damaging 0.98
R4914:Gper1 UTSW 5 139426868 missense probably benign 0.35
R6836:Gper1 UTSW 5 139426680 missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-07-06