Incidental Mutation 'R9063:Esr2'
ID 689113
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 # R9063 (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 T at 76168590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 540 (Y540N)
Ref Sequence ENSEMBL: ENSMUSP00000151463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076634] [ENSMUST00000101291] [ENSMUST00000110421] [ENSMUST00000133564] [ENSMUST00000218621]
AlphaFold O08537
Predicted Effect probably benign
Transcript: ENSMUST00000076634
AA Change: Y522N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: Y522N

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: ENSMUST00000101291
AA Change: Y521N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: Y521N

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 benign
Transcript: ENSMUST00000110421
AA Change: Y503N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: Y503N

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 benign
Transcript: ENSMUST00000218621
AA Change: Y540N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T G 7: 115,703,660 (GRCm39) S178A probably benign Het
Add3 T C 19: 53,222,302 (GRCm39) L303P probably damaging Het
Agr2 T A 12: 36,053,898 (GRCm39) *176K probably null Het
Apobr C T 7: 126,185,920 (GRCm39) T477I probably benign Het
Cdca7l G A 12: 117,838,536 (GRCm39) V336M probably damaging Het
Cep63 T G 9: 102,496,227 (GRCm39) H18P unknown Het
Copa A G 1: 171,944,529 (GRCm39) D838G probably benign Het
Cspg4 G T 9: 56,795,687 (GRCm39) V1141L probably benign Het
D930020B18Rik A G 10: 121,497,002 (GRCm39) T146A probably benign Het
Dapk1 A T 13: 60,866,264 (GRCm39) I206L probably benign Het
Emsy C T 7: 98,295,684 (GRCm39) D73N probably damaging Het
Exoc7 C A 11: 116,180,101 (GRCm39) V668L probably benign Het
Fcgbp C T 7: 27,791,277 (GRCm39) T846I probably damaging Het
Fhod3 A G 18: 25,153,772 (GRCm39) E418G probably damaging Het
Fryl G A 5: 73,238,346 (GRCm39) R1467C possibly damaging Het
Gas2l3 A G 10: 89,249,558 (GRCm39) I520T probably benign Het
Gfod1 A G 13: 43,354,280 (GRCm39) C232R probably benign Het
Gpr61 T C 3: 108,057,555 (GRCm39) R369G probably benign Het
Hk1 T C 10: 62,122,429 (GRCm39) Y423C probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Jmy T C 13: 93,635,580 (GRCm39) R79G probably benign Het
Kcnn4 T A 7: 24,076,934 (GRCm39) V161E probably damaging Het
Kif15 T A 9: 122,833,706 (GRCm39) I1040N probably damaging Het
Kif2b A G 11: 91,466,654 (GRCm39) L543S probably damaging Het
Kpna2 A G 11: 106,883,489 (GRCm39) I81T probably benign Het
Krt12 A G 11: 99,307,757 (GRCm39) S444P probably benign Het
Lmnb2 C T 10: 80,742,005 (GRCm39) V29M probably benign Het
Lmod2 T C 6: 24,603,364 (GRCm39) V113A probably benign Het
Lrp1b T C 2: 41,231,838 (GRCm39) T1211A Het
Lrrc8d T C 5: 105,961,959 (GRCm39) S790P probably damaging Het
Map3k4 A G 17: 12,482,878 (GRCm39) V613A probably damaging Het
Marveld2 T C 13: 100,748,653 (GRCm39) N142S probably benign Het
Mgll G A 6: 88,802,690 (GRCm39) V282I possibly damaging Het
Mief2 G A 11: 60,622,314 (GRCm39) E295K probably damaging Het
Mmrn2 A T 14: 34,120,567 (GRCm39) H479L probably benign Het
Myh15 T A 16: 48,913,118 (GRCm39) N358K probably benign Het
Mzf1 T G 7: 12,787,005 (GRCm39) K101Q probably damaging Het
Ncbp3 T A 11: 72,964,253 (GRCm39) L401Q probably damaging Het
Nck2 T C 1: 43,593,503 (GRCm39) C237R possibly damaging Het
Nlrp9a T G 7: 26,273,291 (GRCm39) N976K possibly damaging Het
Nol11 A G 11: 107,064,240 (GRCm39) V524A probably benign Het
Nol11 T C 11: 107,069,857 (GRCm39) Y331C possibly damaging Het
Nsmf A T 2: 24,952,622 (GRCm39) H149L probably benign Het
Olfm3 T C 3: 114,914,582 (GRCm39) V231A probably benign Het
Or1l4b A T 2: 37,036,646 (GRCm39) M141L probably benign Het
Or51a6 A G 7: 102,604,446 (GRCm39) S121P probably benign Het
Or55b4 T C 7: 102,133,931 (GRCm39) Y132C probably damaging Het
Pcdhgb5 T A 18: 37,864,739 (GRCm39) F178Y probably damaging Het
Plk2 T A 13: 110,532,920 (GRCm39) S160R possibly damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Ppp1cc A G 5: 122,306,279 (GRCm39) N33D probably benign Het
Ptpn23 T C 9: 110,218,693 (GRCm39) E499G possibly damaging Het
Pwp1 A G 10: 85,720,431 (GRCm39) H356R probably benign Het
Rbsn G T 6: 92,171,000 (GRCm39) T307K probably benign Het
Rnf19a G A 15: 36,265,615 (GRCm39) Q161* probably null Het
Scin T C 12: 40,134,336 (GRCm39) D236G possibly damaging Het
Setd1a G A 7: 127,385,558 (GRCm39) R755H possibly damaging Het
Sik3 C T 9: 46,123,735 (GRCm39) T1178I probably benign Het
Slc49a3 A G 5: 108,590,103 (GRCm39) L433P probably damaging Het
Tex26 C T 5: 149,393,826 (GRCm39) R272C probably damaging Het
Trim60 T A 8: 65,453,465 (GRCm39) K261N possibly damaging Het
Tspan9 A G 6: 127,944,072 (GRCm39) I76T probably damaging Het
Ttn T A 2: 76,588,833 (GRCm39) Y21412F probably damaging Het
Ttn A T 2: 76,710,907 (GRCm39) I8409N unknown Het
Unc80 T C 1: 66,645,816 (GRCm39) probably null Het
Ush2a A T 1: 187,995,457 (GRCm39) Q76L probably benign Het
Usp1 G A 4: 98,819,389 (GRCm39) V284I probably benign Het
Usp31 A G 7: 121,306,466 (GRCm39) V4A probably benign Het
Vmn2r88 G A 14: 51,648,329 (GRCm39) probably benign Het
Zfp959 G A 17: 56,204,221 (GRCm39) R86K probably benign 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
R6163:Esr2 UTSW 12 76,168,643 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ATTCAGCAGTAAGTCCTGGTAC -3'
(R):5'- AGCCTTGGGGACTATTTCAACC -3'

Sequencing Primer
(F):5'- GTACGTGACCAAGTCAGCC -3'
(R):5'- GGGGACTATTTCAACCTTCTCTTGG -3'
Posted On 2021-11-19