Incidental Mutation 'R8302:Gper1'
ID 646445
Institutional Source Beutler Lab
Gene Symbol Gper1
Ensembl Gene ENSMUSG00000053647
Gene Name G protein-coupled estrogen receptor 1
Synonyms CMKRL2, 6330420K13Rik, FEG-1, GPCR-Br, Gpr30, Ceprl, Gper
MMRRC Submission 067790-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R8302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 139408906-139413555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139412030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
Ref Sequence ENSEMBL: ENSMUSP00000080370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066052] [ENSMUST00000066211] [ENSMUST00000198474]
AlphaFold Q8BMP4
Predicted Effect probably benign
Transcript: ENSMUST00000066052
SMART Domains Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000066211
AA Change: D125G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080370
Gene: ENSMUSG00000053647
AA Change: D125G

DomainStartEndE-ValueType
Pfam:7tm_1 76 324 2e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198474
SMART Domains Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 102 141 9e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,853,406 (GRCm39) probably null Het
Ank3 T C 10: 69,840,810 (GRCm39) S1937P possibly damaging Het
Atg5 T A 10: 44,162,115 (GRCm39) D10E probably benign Het
Car12 A G 9: 66,654,879 (GRCm39) D103G probably benign Het
Cpa3 A G 3: 20,276,316 (GRCm39) Y306H probably damaging Het
Cyp2c40 A G 19: 39,796,066 (GRCm39) V104A probably damaging Het
Cyp2c66 A T 19: 39,165,078 (GRCm39) H353L probably damaging Het
Cyp2d22 A G 15: 82,256,021 (GRCm39) probably null Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Exph5 A G 9: 53,287,776 (GRCm39) E1619G possibly damaging Het
Frmd5 T A 2: 121,378,060 (GRCm39) T435S unknown Het
Gm3371 T C 14: 44,641,181 (GRCm39) R128G Het
Il17re C A 6: 113,443,280 (GRCm39) S340* probably null Het
Kazald1 T A 19: 45,065,278 (GRCm39) L53Q probably damaging Het
Kdm3b A T 18: 34,967,388 (GRCm39) H1731L probably damaging Het
Kif20a T C 18: 34,765,030 (GRCm39) S755P probably damaging Het
Lrch1 T C 14: 75,032,772 (GRCm39) N526S probably benign Het
Map3k8 T C 18: 4,334,064 (GRCm39) I343V probably damaging Het
Nabp1 A T 1: 51,511,498 (GRCm39) F140L probably benign Het
Ncor1 A G 11: 62,224,681 (GRCm39) S860P probably benign Het
Ndufaf5 T A 2: 140,030,698 (GRCm39) Y195N possibly damaging Het
Nsfl1c T C 2: 151,346,056 (GRCm39) L157P probably damaging Het
Or2aj5 T A 16: 19,425,116 (GRCm39) I100L probably benign Het
Or4c104 T A 2: 88,586,987 (GRCm39) I11F possibly damaging Het
Or5ak24 T A 2: 85,260,430 (GRCm39) T248S possibly damaging Het
Pcdh10 A G 3: 45,335,933 (GRCm39) Y749C probably damaging Het
Plcz1 T A 6: 139,974,163 (GRCm39) K93I probably damaging Het
Plpbp T C 8: 27,539,216 (GRCm39) S109P Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Psma6 A T 12: 55,456,966 (GRCm39) Y103F probably benign Het
Ptpn3 A G 4: 57,218,514 (GRCm39) F650L probably benign Het
Pxk T C 14: 8,164,094 (GRCm38) F562S probably damaging Het
Rbl2 A G 8: 91,812,073 (GRCm39) D214G probably damaging Het
Rgs17 C T 10: 5,812,525 (GRCm39) C58Y possibly damaging Het
Rnf6 A T 5: 146,148,334 (GRCm39) V228E probably benign Het
Sardh T C 2: 27,105,122 (GRCm39) D667G probably benign Het
Slc12a1 T A 2: 125,032,209 (GRCm39) V620D probably damaging Het
Slc39a7 A G 17: 34,249,686 (GRCm39) I153T probably damaging Het
Slc5a11 T C 7: 122,847,162 (GRCm39) V125A probably damaging Het
Slc9c1 T C 16: 45,368,058 (GRCm39) F216L probably benign Het
Strip1 A T 3: 107,533,024 (GRCm39) I208N probably damaging Het
Top1 T C 2: 160,545,496 (GRCm39) M288T probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trmt2a T C 16: 18,067,813 (GRCm39) V162A probably damaging Het
Wdr35 T C 12: 9,078,110 (GRCm39) I1167T probably benign Het
Wdr76 C A 2: 121,341,044 (GRCm39) H30N probably benign Het
Zan A G 5: 137,407,923 (GRCm39) S3624P unknown Het
Zc3h7a T C 16: 10,955,249 (GRCm39) K942E probably damaging Het
Zfp292 A G 4: 34,810,893 (GRCm39) V722A possibly damaging Het
Zfp943 A G 17: 22,211,091 (GRCm39) H59R probably benign Het
Other mutations in Gper1
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0040:Gper1 UTSW 5 139,412,243 (GRCm39) missense probably benign 0.00
R1233:Gper1 UTSW 5 139,412,357 (GRCm39) missense probably damaging 1.00
R1785:Gper1 UTSW 5 139,412,477 (GRCm39) missense probably damaging 1.00
R1786:Gper1 UTSW 5 139,412,477 (GRCm39) missense probably damaging 1.00
R2078:Gper1 UTSW 5 139,411,888 (GRCm39) missense probably benign 0.30
R3827:Gper1 UTSW 5 139,412,755 (GRCm39) missense probably benign 0.10
R4604:Gper1 UTSW 5 139,412,480 (GRCm39) missense probably damaging 0.98
R4914:Gper1 UTSW 5 139,412,623 (GRCm39) missense probably benign 0.35
R5171:Gper1 UTSW 5 139,412,413 (GRCm39) missense probably damaging 1.00
R6836:Gper1 UTSW 5 139,412,435 (GRCm39) missense probably damaging 0.98
R7801:Gper1 UTSW 5 139,412,443 (GRCm39) missense probably benign 0.25
R8708:Gper1 UTSW 5 139,411,690 (GRCm39) missense probably benign
R9142:Gper1 UTSW 5 139,412,312 (GRCm39) missense possibly damaging 0.82
R9354:Gper1 UTSW 5 139,412,029 (GRCm39) missense possibly damaging 0.61
R9511:Gper1 UTSW 5 139,412,138 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCAGTACGTGATTGCCCTC -3'
(R):5'- ACTGAGGCCATCCAGATGAG -3'

Sequencing Primer
(F):5'- AGTACGTGATTGCCCTCTTCCTC -3'
(R):5'- ATGAGGCCACAGCTGAGC -3'
Posted On 2020-09-02