Incidental Mutation 'R9142:Gper1'
ID 694385
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 068934-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R9142 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139408906-139413555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139412312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 219 (V219A)
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 possibly damaging
Transcript: ENSMUST00000066211
AA Change: V219A

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080370
Gene: ENSMUSG00000053647
AA Change: V219A

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
Meta Mutation Damage Score 0.3082 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs C A 4: 126,215,360 (GRCm39) G35V probably damaging Het
Apob A C 12: 8,062,705 (GRCm39) D3729A possibly damaging Het
App G A 16: 84,900,127 (GRCm39) H108Y probably damaging Het
Arap3 G A 18: 38,112,934 (GRCm39) A1092V possibly damaging Het
Arid3a T C 10: 79,787,612 (GRCm39) S550P unknown Het
Armc2 T G 10: 41,851,404 (GRCm39) E259D probably benign Het
Atp13a2 A G 4: 140,729,364 (GRCm39) D566G probably damaging Het
Bnc2 A G 4: 84,474,111 (GRCm39) C12R probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cc2d2b C T 19: 40,753,845 (GRCm39) R123* probably null Het
Cdc37l1 T A 19: 28,989,402 (GRCm39) H286Q possibly damaging Het
Cfap54 A T 10: 92,820,097 (GRCm39) L1239Q possibly damaging Het
Cfap58 T C 19: 47,974,993 (GRCm39) probably null Het
Col6a3 A T 1: 90,706,566 (GRCm39) D2789E unknown Het
Ctnna2 G T 6: 76,879,423 (GRCm39) probably benign Het
Dazl A G 17: 50,590,178 (GRCm39) V271A probably benign Het
Dennd4c A T 4: 86,755,637 (GRCm39) N1610Y probably benign Het
Dusp13b T A 14: 21,792,756 (GRCm39) K56N probably benign Het
Erbb2 T A 11: 98,312,884 (GRCm39) I149N probably damaging Het
Erbb4 A T 1: 68,388,552 (GRCm39) C217S probably damaging Het
Fbxw21 A G 9: 108,985,413 (GRCm39) C122R probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Foxm1 T A 6: 128,344,298 (GRCm39) I182N probably damaging Het
Ggnbp2 T C 11: 84,730,886 (GRCm39) N381S possibly damaging Het
Gja3 T C 14: 57,274,048 (GRCm39) E108G probably benign Het
Gm40460 C A 7: 141,794,499 (GRCm39) G106V unknown Het
Gm9736 A G 10: 77,586,849 (GRCm39) C114R unknown Het
Gpbp1 A T 13: 111,563,033 (GRCm39) D492E unknown Het
Gtf2e1 C T 16: 37,356,364 (GRCm39) R56Q probably benign Het
H2ac10 T C 13: 23,718,151 (GRCm39) L24P probably damaging Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Kat6a T A 8: 23,430,072 (GRCm39) M1809K unknown Het
Kdm2b A T 5: 123,127,112 (GRCm39) probably benign Het
Kif7 A T 7: 79,356,585 (GRCm39) M702K probably benign Het
Lrrtm4 T A 6: 79,999,426 (GRCm39) N279K probably damaging Het
Mcrip1 G A 11: 120,435,542 (GRCm39) P31L probably damaging Het
Mettl25b A G 3: 87,831,195 (GRCm39) I444T probably benign Het
Nf1 T A 11: 79,362,315 (GRCm39) S1497R probably damaging Het
Nf1 T A 11: 79,366,688 (GRCm39) I1607N probably damaging Het
Nrde2 G T 12: 100,117,518 (GRCm39) T47K probably benign Het
Or5w12 C T 2: 87,502,313 (GRCm39) V133I probably benign Het
Or6b2b T G 1: 92,419,411 (GRCm39) E22A probably benign Het
Or6c1 T C 10: 129,518,285 (GRCm39) T108A probably benign Het
Ppargc1a G A 5: 51,652,146 (GRCm39) T184I possibly damaging Het
Ppp1r15a T C 7: 45,173,920 (GRCm39) D296G probably damaging Het
Prl7c1 C T 13: 27,964,751 (GRCm39) probably benign Het
Prss42 G T 9: 110,628,228 (GRCm39) R124L possibly damaging Het
Psmd1 T G 1: 86,064,817 (GRCm39) Y950D probably damaging Het
Ptprr A T 10: 116,024,119 (GRCm39) L250F possibly damaging Het
Rabgef1 T A 5: 130,237,554 (GRCm39) M208K possibly damaging Het
Rps6ka2 A G 17: 7,437,793 (GRCm39) Y17C probably damaging Het
Scart2 T A 7: 139,877,806 (GRCm39) D929E probably damaging Het
Sec23ip T A 7: 128,363,226 (GRCm39) C463S probably damaging Het
Serpina3n A G 12: 104,379,710 (GRCm39) T368A probably damaging Het
Sez6l C T 5: 112,609,083 (GRCm39) A589T probably benign Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Spag5 T A 11: 78,192,823 (GRCm39) Y52N possibly damaging Het
Tenm3 G A 8: 48,788,548 (GRCm39) S494L unknown Het
Top3b T C 16: 16,701,299 (GRCm39) Y204H probably damaging Het
Trim43b C T 9: 88,973,452 (GRCm39) V94M possibly damaging Het
Trps1 T G 15: 50,524,658 (GRCm39) I1091L probably damaging Het
Ttk G A 9: 83,725,741 (GRCm39) R221Q probably damaging Het
Ttn A C 2: 76,549,466 (GRCm39) M31737R probably damaging Het
Uso1 T A 5: 92,335,125 (GRCm39) L495* probably null Het
Usp19 A G 9: 108,372,284 (GRCm39) D447G possibly damaging Het
Zdhhc2 A G 8: 40,920,563 (GRCm39) E274G probably damaging Het
Zfp106 T A 2: 120,350,935 (GRCm39) Y1595F probably damaging Het
Zfp932 A T 5: 110,157,520 (GRCm39) H406L probably damaging 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
R8302:Gper1 UTSW 5 139,412,030 (GRCm39) missense probably benign 0.41
R8708:Gper1 UTSW 5 139,411,690 (GRCm39) missense probably benign
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'- TCCTCACCTGGATGAGCTTC -3'
(R):5'- CTGATGAAGACGTTCTCCGG -3'

Sequencing Primer
(F):5'- ATGAGCTTCGACAGGTACCTAGC -3'
(R):5'- ACGTTCTCCGGCAGCCAG -3'
Posted On 2022-01-20