Incidental Mutation 'IGL02142:Esr2'
ID 281634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esr2
Ensembl Gene ENSMUSG00000021055
Gene Name estrogen receptor 2 (beta)
Synonyms ERbeta, ER beta, Estrb, oestrogen receptor beta
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.626) question?
Stock # IGL02142
Quality Score
Chromosome 12
Chromosomal Location 76120419-76177259 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76123195 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 453 (V453A)
Ref Sequence ENSEMBL: ENSMUSP00000106051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076634] [ENSMUST00000101291] [ENSMUST00000110421] [ENSMUST00000133564] [ENSMUST00000218621]
AlphaFold O08537
Predicted Effect probably benign
Transcript: ENSMUST00000076634
AA Change: V472A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: V472A

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: V471A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: V471A

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: V453A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: V453A

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

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: V490A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik G A 19: 11,110,331 Q79* probably null Het
Abca4 T C 3: 122,169,926 S2060P probably benign Het
Abcg4 A G 9: 44,277,717 F426S probably benign Het
Actn1 C T 12: 80,176,155 probably null Het
Adgrd1 T A 5: 129,131,584 H251Q probably benign Het
Adgrg3 C T 8: 95,039,855 P385S probably damaging Het
Ampd2 G T 3: 108,080,344 probably benign Het
Arhgap42 A G 9: 9,155,359 S86P probably damaging Het
Armc4 C A 18: 7,214,601 W733C probably damaging Het
Art5 C T 7: 102,097,916 E121K probably null Het
Atad5 G A 11: 80,094,197 E37K probably benign Het
Atp13a5 A G 16: 29,234,563 V1084A probably benign Het
Cfap44 T C 16: 44,421,144 I626T probably benign Het
Col16a1 T A 4: 130,051,647 probably null Het
Defa22 T G 8: 21,163,114 C81G possibly damaging Het
Dnm2 A G 9: 21,500,353 Y622C probably damaging Het
Efna5 T A 17: 62,607,345 L201F unknown Het
Elac1 T C 18: 73,738,920 R335G probably benign Het
Enpp5 T C 17: 44,085,577 V460A probably benign Het
Fam210b T A 2: 172,352,577 probably benign Het
Fcgr1 T C 3: 96,284,577 Y305C probably benign Het
Fcrlb A G 1: 170,908,679 V176A probably damaging Het
Gabrq T A X: 72,836,177 V256E possibly damaging Het
Gba T C 3: 89,205,841 L193P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Helq A G 5: 100,783,094 F597L probably benign Het
Hrh1 A T 6: 114,480,243 I162L probably damaging Het
Jph1 A T 1: 17,091,660 F259L probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Kdm4c T A 4: 74,307,016 probably null Het
Kif13a T C 13: 46,771,535 T308A probably benign Het
Lars C T 18: 42,227,280 V704M probably benign Het
Lcmt2 A G 2: 121,138,913 L343P possibly damaging Het
Lhfpl1 A G X: 145,340,737 F125L probably benign Het
Lmbrd2 C A 15: 9,186,685 D582E probably damaging Het
Lrrn2 T A 1: 132,939,245 S683T possibly damaging Het
Macf1 T C 4: 123,472,049 D1408G probably benign Het
Magi3 T C 3: 104,015,903 K1166R probably benign Het
March5 T C 19: 37,220,493 probably benign Het
Naa25 A G 5: 121,426,762 Q555R possibly damaging Het
Npat A G 9: 53,569,907 T1005A probably benign Het
Nt5c3 G A 6: 56,886,685 A108V probably damaging Het
Ocrl T A X: 47,936,118 M322K probably damaging Het
Olfr229 A G 9: 39,910,639 T279A possibly damaging Het
Psg23 A T 7: 18,610,420 V370E probably benign Het
Rassf2 A T 2: 131,996,433 M311K possibly damaging Het
Rhobtb3 A G 13: 75,877,495 Y501H probably damaging Het
Rpl4 A G 9: 64,176,206 D179G possibly damaging Het
Scn2a T A 2: 65,715,838 I915N probably damaging Het
Scn3a T A 2: 65,526,621 T160S possibly damaging Het
Slx4ip T G 2: 137,068,022 N242K possibly damaging Het
Spidr T A 16: 16,048,081 Q288L probably benign Het
Sun1 A T 5: 139,231,163 H255L possibly damaging Het
Tacc1 C T 8: 25,175,217 G51S probably damaging Het
Tet2 T A 3: 133,480,139 N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,062,592 Y349C probably damaging Het
Tnrc6a T C 7: 123,152,191 probably benign Het
Trim32 T C 4: 65,614,499 L431P probably damaging Het
Vmn1r35 A G 6: 66,679,350 L112S probably damaging Het
Vmn2r100 A C 17: 19,522,321 H319P probably damaging Het
Wdr20rt A G 12: 65,227,265 T328A probably benign Het
Zbtb17 T C 4: 141,464,982 Y413H probably benign Het
Other mutations in Esr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Esr2 APN 12 76133896 missense probably damaging 1.00
IGL00435:Esr2 APN 12 76133879 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
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
R9063:Esr2 UTSW 12 76121816 missense probably benign
Posted On 2015-04-16