Incidental Mutation 'IGL00435:Esr2'
ID4398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esr2
Ensembl Gene ENSMUSG00000021055
Gene Nameestrogen receptor 2 (beta)
SynonymsERbeta, ER beta, Estrb, oestrogen receptor beta
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.669) question?
Stock #IGL00435
Quality Score
Status
Chromosome12
Chromosomal Location76120419-76177259 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 76133879 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 423 (R423W)
Ref Sequence ENSEMBL: ENSMUSP00000151463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076634] [ENSMUST00000101291] [ENSMUST00000110421] [ENSMUST00000133564] [ENSMUST00000218621]
Predicted Effect probably damaging
Transcript: ENSMUST00000076634
AA Change: R405W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: R405W

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: R404W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: R404W

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: R386W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: R386W

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 silent
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: R423W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,164,528 D2575V probably damaging Het
Arhgap28 A T 17: 67,845,801 D657E probably damaging Het
Cd68 T C 11: 69,665,850 T44A probably damaging Het
Cecr2 C T 6: 120,756,717 T555M probably damaging Het
Cep170b A G 12: 112,735,194 Q169R probably damaging Het
Cs T C 10: 128,360,043 F374L probably damaging Het
Dpy19l1 T C 9: 24,481,930 E181G probably damaging Het
Efcab12 T C 6: 115,823,664 T133A probably benign Het
Eya4 T C 10: 23,159,097 Y120C probably benign Het
Fam46c A G 3: 100,473,356 V28A probably damaging Het
Fbxw8 A G 5: 118,068,137 M582T probably benign Het
Ghsr A G 3: 27,372,383 E196G possibly damaging Het
Gm10024 G A 10: 77,711,461 probably benign Het
Gm609 A T 16: 45,444,120 L25Q probably damaging Het
Gpr65 A G 12: 98,275,556 E156G probably damaging Het
Gtf3c3 T C 1: 54,427,535 Y249C possibly damaging Het
H2-T23 G A 17: 36,031,781 A155V probably damaging Het
Hadha A G 5: 30,122,173 S556P probably benign Het
Hdac7 T A 15: 97,809,495 K187N probably damaging Het
Inpp5j T C 11: 3,502,255 I332V probably benign Het
Kank1 A G 19: 25,430,236 D1198G probably benign Het
Kdr A G 5: 75,968,750 L159P probably damaging Het
Me2 T C 18: 73,770,642 E585G probably benign Het
Nfu1 A T 6: 87,015,595 T64S probably damaging Het
Nsd3 A G 8: 25,676,712 D632G probably benign Het
Pcna T C 2: 132,251,932 D97G probably benign Het
Pgm1 A G 5: 64,108,269 probably benign Het
Phactr1 C A 13: 42,956,646 R2S probably damaging Het
Psmd11 T A 11: 80,470,384 I347N possibly damaging Het
Rad21l T C 2: 151,653,516 T416A probably benign Het
Ruvbl2 A T 7: 45,425,172 S181T probably benign Het
Rxrb A G 17: 34,034,075 T109A probably damaging Het
Ryr3 T A 2: 112,660,149 Y3785F probably damaging Het
Sec16a T C 2: 26,430,101 T1442A probably benign Het
Slc6a14 T A X: 21,734,124 probably benign Het
Slco2b1 G A 7: 99,660,052 Q691* probably null Het
Them5 A G 3: 94,346,189 T169A possibly damaging Het
Trav13-2 T C 14: 53,635,231 F55L possibly damaging Het
Tst A T 15: 78,405,461 S125T probably damaging Het
Ttn T C 2: 76,800,524 T14179A probably benign Het
Vps37b A G 5: 124,010,787 Y62H probably damaging Het
Other mutations in Esr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Esr2 APN 12 76133896 missense probably damaging 1.00
IGL01591:Esr2 APN 12 76121724 utr 3 prime probably benign
IGL01695:Esr2 APN 12 76145319 missense probably damaging 1.00
IGL02142:Esr2 APN 12 76123195 missense probably benign 0.02
IGL02343:Esr2 APN 12 76145345 missense probably benign 0.01
IGL02584:Esr2 APN 12 76145262 missense probably damaging 1.00
R0380:Esr2 UTSW 12 76123291 missense possibly damaging 0.81
R0975:Esr2 UTSW 12 76145308 missense possibly damaging 0.49
R2075:Esr2 UTSW 12 76165447 critical splice donor site probably null
R3881:Esr2 UTSW 12 76167620 missense probably damaging 0.96
R4475:Esr2 UTSW 12 76133942 missense probably benign 0.04
R4520:Esr2 UTSW 12 76167549 missense possibly damaging 0.91
R4636:Esr2 UTSW 12 76123324 missense possibly damaging 0.50
R5167:Esr2 UTSW 12 76123274 missense probably benign 0.00
R6163:Esr2 UTSW 12 76121869 missense probably damaging 1.00
R6928:Esr2 UTSW 12 76165478 missense probably damaging 1.00
R6965:Esr2 UTSW 12 76121857 missense probably damaging 0.97
R7441:Esr2 UTSW 12 76141394 missense probably benign 0.01
Posted On2012-04-20