Incidental Mutation 'R0380:Esr2'
ID 30944
Institutional Source Beutler Lab
Gene Symbol Esr2
Ensembl Gene ENSMUSG00000021055
Gene Name estrogen receptor 2 (beta)
Synonyms ERbeta, oestrogen receptor beta, Estrb, ER beta
MMRRC Submission 038586-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.707) question?
Stock # R0380 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 76167193-76224033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 76170065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 458 (E458A)
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: E440A

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: E440A

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 possibly damaging
Transcript: ENSMUST00000101291
AA Change: E439A

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: E439A

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 possibly damaging
Transcript: ENSMUST00000110421
AA Change: E421A

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: E421A

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 possibly damaging
Transcript: ENSMUST00000218621
AA Change: E458A

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,538,500 (GRCm39) probably null Het
Abca14 A T 7: 119,877,703 (GRCm39) I1073L probably benign Het
Adamts17 C T 7: 66,799,792 (GRCm39) P1116L probably benign Het
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Ano4 A G 10: 88,814,675 (GRCm39) I671T possibly damaging Het
Aoc1l1 A G 6: 48,952,773 (GRCm39) I233V probably benign Het
Ap1g1 A G 8: 110,529,796 (GRCm39) probably benign Het
Arhgap19 A G 19: 41,761,576 (GRCm39) probably benign Het
Arhgap32 C T 9: 32,157,773 (GRCm39) R129W probably damaging Het
Atp10b G T 11: 43,116,424 (GRCm39) A924S probably damaging Het
Ccdc180 T A 4: 45,930,197 (GRCm39) probably null Het
Cckbr A G 7: 105,084,198 (GRCm39) T311A probably benign Het
Cr2 C T 1: 194,839,715 (GRCm39) G947R probably damaging Het
Cyp2g1 T A 7: 26,513,720 (GRCm39) probably benign Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
Dscam A G 16: 96,857,810 (GRCm39) Y67H probably damaging Het
Dsg2 T A 18: 20,715,996 (GRCm39) Y282* probably null Het
Epg5 T C 18: 78,004,056 (GRCm39) L688P probably damaging Het
Fat1 T C 8: 45,463,160 (GRCm39) S1326P probably damaging Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Gpr12 T A 5: 146,520,146 (GRCm39) T259S probably damaging Het
Grm5 T A 7: 87,723,584 (GRCm39) C625S possibly damaging Het
H2-Q1 C T 17: 35,542,054 (GRCm39) H209Y probably damaging Het
Hcfc2 C A 10: 82,564,272 (GRCm39) probably benign Het
Itgal C A 7: 126,909,923 (GRCm39) Y495* probably null Het
Kbtbd3 T A 9: 4,330,545 (GRCm39) Y306* probably null Het
Kcns2 T C 15: 34,839,318 (GRCm39) F227S possibly damaging Het
Kif1a T A 1: 92,983,753 (GRCm39) probably null Het
Maml2 C T 9: 13,532,396 (GRCm39) R537* probably null Het
Muc4 G A 16: 32,574,333 (GRCm39) A928T probably benign Het
Nav3 A G 10: 109,594,740 (GRCm39) probably benign Het
Neb A T 2: 52,122,214 (GRCm39) M605K probably damaging Het
Or2c1 A T 16: 3,656,849 (GRCm39) D4V probably benign Het
Pcdhb3 T G 18: 37,435,210 (GRCm39) I392S possibly damaging Het
Prune2 A G 19: 17,101,371 (GRCm39) T2292A probably damaging Het
Rbbp8nl A T 2: 179,923,512 (GRCm39) M108K probably damaging Het
Rbm25 A G 12: 83,707,130 (GRCm39) T259A probably benign Het
Recql C A 6: 142,315,156 (GRCm39) R243L probably damaging Het
Rsf1 TGGCG TGGCGACGGCGGCG 7: 97,229,112 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,878,551 (GRCm39) probably null Het
Slc16a14 T A 1: 84,907,251 (GRCm39) I8F possibly damaging Het
Spef1 G T 2: 131,014,332 (GRCm39) probably benign Het
Tas2r103 A G 6: 133,013,166 (GRCm39) L300P probably damaging Het
Tas2r117 A T 6: 132,780,551 (GRCm39) R230* probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thnsl2 A T 6: 71,118,314 (GRCm39) L38Q probably damaging Het
Tmem171 G T 13: 98,828,535 (GRCm39) T205K possibly damaging Het
Tmem232 A T 17: 65,563,443 (GRCm39) L650Q probably benign Het
Tpr T A 1: 150,288,698 (GRCm39) D518E probably benign Het
Tsen54 T C 11: 115,713,423 (GRCm39) V442A probably damaging Het
Tshz3 A T 7: 36,470,725 (GRCm39) I905F probably damaging Het
Vmn1r66 C T 7: 10,008,670 (GRCm39) C121Y probably benign Het
Wdfy3 T C 5: 102,096,832 (GRCm39) Q322R probably damaging Het
Wdr64 T C 1: 175,597,208 (GRCm39) 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
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
R9063:Esr2 UTSW 12 76,168,590 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTGATGTGCCTGACATGAGAAAG -3'
(R):5'- ATTTGACCTGGTGGACACCTGGAG -3'

Sequencing Primer
(F):5'- CCTGACATGAGAAAGAAGCATC -3'
(R):5'- GACACCTGGAGGGATCATTTATC -3'
Posted On 2013-04-24