Incidental Mutation 'R6163:Esr2'
ID 489996
Institutional Source Beutler Lab
Gene Symbol Esr2
Ensembl Gene ENSMUSG00000021055
Gene Name estrogen receptor 2 (beta)
Synonyms ERbeta, oestrogen receptor beta, Estrb, ER beta
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # R6163 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 76167193-76224033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 76168643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 522 (V522G)
Ref Sequence ENSEMBL: ENSMUSP00000151463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076634] [ENSMUST00000101291] [ENSMUST00000110421] [ENSMUST00000133564] [ENSMUST00000218621]
AlphaFold O08537
Predicted Effect probably damaging
Transcript: ENSMUST00000076634
AA Change: V504G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: V504G

DomainStartEndE-ValueType
Pfam:ERbeta_N 31 143 4.2e-41 PFAM
ZnF_C4 165 236 1.84e-34 SMART
HOLI 319 488 5.99e-34 SMART
Blast:HOLI 489 519 7e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000101291
AA Change: V503G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: V503G

DomainStartEndE-ValueType
Pfam:ERbeta_N 31 141 1.9e-56 PFAM
ZnF_C4 165 236 1.84e-34 SMART
HOLI 319 506 6.88e-34 SMART
Blast:HOLI 507 537 8e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000110421
AA Change: V485G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: V485G

DomainStartEndE-ValueType
Pfam:ERbeta_N 31 143 4.2e-41 PFAM
ZnF_C4 165 236 1.84e-34 SMART
HOLI 319 488 5.99e-34 SMART
Blast:HOLI 489 519 7e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000133564
SMART Domains Protein: ENSMUSP00000138637
Gene: ENSMUSG00000021055

DomainStartEndE-ValueType
Pfam:ERbeta_N 31 143 1.1e-41 PFAM
ZnF_C4 165 236 1.84e-34 SMART
PDB:2J7Y|A 274 337 1e-33 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000218621
AA Change: V522G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neural, behavior, glucose homeostasis, sex-specific nociception, cardiac, and ion channel abnormalities and myeloproliferative disorders. Females are sterile/subfertile with granulosa cell defects; males show prostate hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,982,098 (GRCm39) Q228* probably null Het
Asic5 A G 3: 81,913,833 (GRCm39) N169S probably damaging Het
Atad2b T A 12: 5,004,593 (GRCm39) L374H probably benign Het
Birc2 G A 9: 7,819,036 (GRCm39) T544I probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Cc2d2b C T 19: 40,744,950 (GRCm39) T23I probably benign Het
Ccdc137 G T 11: 120,350,927 (GRCm39) R108L possibly damaging Het
Cenpe T C 3: 134,974,764 (GRCm39) I2308T probably damaging Het
Clec2m C T 6: 129,303,710 (GRCm39) R85H probably benign Het
Cpt1b T C 15: 89,308,620 (GRCm39) T103A probably benign Het
Cpvl C A 6: 53,850,503 (GRCm39) V445F probably damaging Het
Cttnbp2 A G 6: 18,434,950 (GRCm39) S303P possibly damaging Het
Cyp17a1 T A 19: 46,657,761 (GRCm39) I264F possibly damaging Het
Cyp51 T A 5: 4,150,199 (GRCm39) I175F probably damaging Het
Dennd4c C T 4: 86,723,828 (GRCm39) P695S possibly damaging Het
Dlgap2 A T 8: 14,896,641 (GRCm39) Q1039L probably damaging Het
Dnah14 T C 1: 181,493,926 (GRCm39) L1694P probably benign Het
Dnah2 G A 11: 69,411,729 (GRCm39) Q298* probably null Het
Dsg2 G T 18: 20,731,726 (GRCm39) probably null Het
Fmo9 T A 1: 166,494,962 (GRCm39) H262L probably benign Het
Glb1l T A 1: 75,178,051 (GRCm39) M373L probably benign Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gm37240 T A 3: 84,423,092 (GRCm39) E213D probably damaging Het
Gmip T A 8: 70,270,022 (GRCm39) V675E probably benign Het
Grb10 C A 11: 11,893,932 (GRCm39) E330* probably null Het
H2ac13 A T 13: 21,900,859 (GRCm39) N90Y probably damaging Het
Hivep2 A G 10: 14,005,736 (GRCm39) K778R probably damaging Het
Ighv1-26 T C 12: 114,752,416 (GRCm39) S4G probably benign Het
Igkv3-3 T A 6: 70,664,257 (GRCm39) V33E possibly damaging Het
Itga2 C A 13: 115,002,726 (GRCm39) G588V probably damaging Het
Itpr1 C T 6: 108,365,245 (GRCm39) H58Y probably damaging Het
Jmjd1c T A 10: 67,083,827 (GRCm39) D2365E possibly damaging Het
Limk1 T C 5: 134,686,809 (GRCm39) Y518C probably damaging Het
Marchf6 G C 15: 31,465,497 (GRCm39) H802Q probably benign Het
Mark2 A G 19: 7,268,126 (GRCm39) S26P probably benign Het
Mdn1 T A 4: 32,716,040 (GRCm39) L2074Q probably damaging Het
Mrpl37 T C 4: 106,921,793 (GRCm39) E174G possibly damaging Het
Mtcl1 T C 17: 66,686,326 (GRCm39) H860R probably benign Het
Neurod1 A G 2: 79,284,505 (GRCm39) F293L probably benign Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Nwd2 C A 5: 63,963,131 (GRCm39) A905E probably benign Het
Or14a260 A T 7: 85,985,592 (GRCm39) I4N possibly damaging Het
Or1x6 T A 11: 50,939,595 (GRCm39) Y220* probably null Het
Or5b12b A C 19: 12,861,472 (GRCm39) T76P probably damaging Het
Or7e169 A G 9: 19,757,024 (GRCm39) I297T probably benign Het
Otop1 C A 5: 38,445,234 (GRCm39) probably null Het
Otp A G 13: 95,012,288 (GRCm39) H4R probably damaging Het
P4htm A C 9: 108,459,150 (GRCm39) Y261D probably damaging Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Plekhg1 A T 10: 3,914,369 (GRCm39) R1419W probably damaging Het
Pramel20 A G 4: 143,298,605 (GRCm39) K183E probably damaging Het
Prkd3 C A 17: 79,273,784 (GRCm39) D491Y possibly damaging Het
Prr11 A C 11: 86,994,454 (GRCm39) L64R possibly damaging Het
Pygo1 G T 9: 72,851,980 (GRCm39) A56S probably damaging Het
Rexo5 A G 7: 119,404,470 (GRCm39) T189A probably damaging Het
Rnf213 A T 11: 119,349,254 (GRCm39) H3784L possibly damaging Het
Rps6ka5 T G 12: 100,562,179 (GRCm39) probably null Het
Slco2b1 T A 7: 99,338,106 (GRCm39) I93F probably damaging Het
Slfn8 T C 11: 82,894,690 (GRCm39) *408W probably null Het
Sptbn1 C A 11: 30,109,443 (GRCm39) E51* probably null Het
Ssc5d T A 7: 4,930,253 (GRCm39) H111Q probably damaging Het
Sult1c2 T C 17: 54,280,981 (GRCm39) N41D probably benign Het
Taar8c G A 10: 23,977,116 (GRCm39) T232I probably benign Het
Tdo2 T C 3: 81,882,710 (GRCm39) E2G possibly damaging Het
Tff2 T C 17: 31,363,152 (GRCm39) E24G probably benign Het
Tjp2 C A 19: 24,103,068 (GRCm39) probably null Het
Tnfrsf1b A T 4: 144,946,477 (GRCm39) D311E probably benign Het
Usp15 G T 10: 123,004,210 (GRCm39) N181K probably damaging Het
Vmn1r175 T G 7: 23,508,591 (GRCm39) E12A possibly damaging Het
Vmn1r47 T C 6: 89,999,773 (GRCm39) S302P probably damaging Het
Vmn2r58 A G 7: 41,486,825 (GRCm39) M690T probably benign Het
Wee1 T A 7: 109,734,858 (GRCm39) H465Q probably damaging Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown Het
Other mutations in Esr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Esr2 APN 12 76,180,670 (GRCm39) missense probably damaging 1.00
IGL00435:Esr2 APN 12 76,180,653 (GRCm39) missense probably damaging 1.00
IGL01591:Esr2 APN 12 76,168,498 (GRCm39) utr 3 prime probably benign
IGL01695:Esr2 APN 12 76,192,093 (GRCm39) missense probably damaging 1.00
IGL02142:Esr2 APN 12 76,169,969 (GRCm39) missense probably benign 0.02
IGL02343:Esr2 APN 12 76,192,119 (GRCm39) missense probably benign 0.01
IGL02584:Esr2 APN 12 76,192,036 (GRCm39) missense probably damaging 1.00
R0380:Esr2 UTSW 12 76,170,065 (GRCm39) missense possibly damaging 0.81
R0975:Esr2 UTSW 12 76,192,082 (GRCm39) missense possibly damaging 0.49
R2075:Esr2 UTSW 12 76,212,221 (GRCm39) critical splice donor site probably null
R3881:Esr2 UTSW 12 76,214,394 (GRCm39) missense probably damaging 0.96
R4475:Esr2 UTSW 12 76,180,716 (GRCm39) missense probably benign 0.04
R4520:Esr2 UTSW 12 76,214,323 (GRCm39) missense possibly damaging 0.91
R4636:Esr2 UTSW 12 76,170,098 (GRCm39) missense possibly damaging 0.50
R5167:Esr2 UTSW 12 76,170,048 (GRCm39) missense probably benign 0.00
R6928:Esr2 UTSW 12 76,212,252 (GRCm39) missense probably damaging 1.00
R6965:Esr2 UTSW 12 76,168,631 (GRCm39) missense probably damaging 0.97
R7441:Esr2 UTSW 12 76,188,168 (GRCm39) missense probably benign 0.01
R9063:Esr2 UTSW 12 76,168,590 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCATCATTGTAATCATCCGCC -3'
(R):5'- CTATTGAGGGAGCTGGATGC -3'

Sequencing Primer
(F):5'- ATTGTAATCATCCGCCTCCAG -3'
(R):5'- GCTGGATGCATGAACAACAGACC -3'
Posted On 2017-10-10