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, oestrogen receptor beta, Estrb, ER beta
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # IGL02142
Quality Score
Status
Chromosome 12
Chromosomal Location 76167193-76224033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76169969 bp (GRCm39)
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

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: V471A

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

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: V453A

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

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: 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
Abca4 T C 3: 121,963,575 (GRCm39) S2060P probably benign Het
Abcg4 A G 9: 44,189,014 (GRCm39) F426S probably benign Het
Actn1 C T 12: 80,222,929 (GRCm39) probably null Het
Adgrd1 T A 5: 129,208,648 (GRCm39) H251Q probably benign Het
Adgrg3 C T 8: 95,766,483 (GRCm39) P385S probably damaging Het
Ampd2 G T 3: 107,987,660 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,155,360 (GRCm39) S86P probably damaging Het
Art5 C T 7: 101,747,123 (GRCm39) E121K probably null Het
Atad5 G A 11: 79,985,023 (GRCm39) E37K probably benign Het
Atp13a5 A G 16: 29,053,315 (GRCm39) V1084A probably benign Het
Cfap44 T C 16: 44,241,507 (GRCm39) I626T probably benign Het
Col16a1 T A 4: 129,945,440 (GRCm39) probably null Het
Defa22 T G 8: 21,653,130 (GRCm39) C81G possibly damaging Het
Dnm2 A G 9: 21,411,649 (GRCm39) Y622C probably damaging Het
Efna5 T A 17: 62,914,340 (GRCm39) L201F unknown Het
Elac1 T C 18: 73,871,991 (GRCm39) R335G probably benign Het
Enpp5 T C 17: 44,396,468 (GRCm39) V460A probably benign Het
Fam210b T A 2: 172,194,497 (GRCm39) probably benign Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Fcrlb A G 1: 170,736,248 (GRCm39) V176A probably damaging Het
Gabrq T A X: 71,879,783 (GRCm39) V256E possibly damaging Het
Gba1 T C 3: 89,113,148 (GRCm39) L193P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Helq A G 5: 100,930,960 (GRCm39) F597L probably benign Het
Hrh1 A T 6: 114,457,204 (GRCm39) I162L probably damaging Het
Jph1 A T 1: 17,161,884 (GRCm39) F259L probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Kdm4c T A 4: 74,225,253 (GRCm39) probably null Het
Kif13a T C 13: 46,925,011 (GRCm39) T308A probably benign Het
Lars1 C T 18: 42,360,345 (GRCm39) V704M probably benign Het
Lcmt2 A G 2: 120,969,394 (GRCm39) L343P possibly damaging Het
Lhfpl1 A G X: 144,123,733 (GRCm39) F125L probably benign Het
Lmbrd2 C A 15: 9,186,772 (GRCm39) D582E probably damaging Het
Lrrn2 T A 1: 132,866,983 (GRCm39) S683T possibly damaging Het
Macf1 T C 4: 123,365,842 (GRCm39) D1408G probably benign Het
Magi3 T C 3: 103,923,219 (GRCm39) K1166R probably benign Het
Marchf5 T C 19: 37,197,892 (GRCm39) probably benign Het
Ms4a20 G A 19: 11,087,695 (GRCm39) Q79* probably null Het
Naa25 A G 5: 121,564,825 (GRCm39) Q555R possibly damaging Het
Npat A G 9: 53,481,207 (GRCm39) T1005A probably benign Het
Nt5c3 G A 6: 56,863,670 (GRCm39) A108V probably damaging Het
Ocrl T A X: 47,024,995 (GRCm39) M322K probably damaging Het
Odad2 C A 18: 7,214,601 (GRCm39) W733C probably damaging Het
Or8g2 A G 9: 39,821,935 (GRCm39) T279A possibly damaging Het
Psg23 A T 7: 18,344,345 (GRCm39) V370E probably benign Het
Rassf2 A T 2: 131,838,353 (GRCm39) M311K possibly damaging Het
Rhobtb3 A G 13: 76,025,614 (GRCm39) Y501H probably damaging Het
Rpl4 A G 9: 64,083,488 (GRCm39) D179G possibly damaging Het
Scn2a T A 2: 65,546,182 (GRCm39) I915N probably damaging Het
Scn3a T A 2: 65,356,965 (GRCm39) T160S possibly damaging Het
Slx4ip T G 2: 136,909,942 (GRCm39) N242K possibly damaging Het
Spidr T A 16: 15,865,945 (GRCm39) Q288L probably benign Het
Sun1 A T 5: 139,216,918 (GRCm39) H255L possibly damaging Het
Tacc1 C T 8: 25,665,233 (GRCm39) G51S probably damaging Het
Tet2 T A 3: 133,185,900 (GRCm39) N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,101,752 (GRCm39) Y349C probably damaging Het
Tnrc6a T C 7: 122,751,414 (GRCm39) probably benign Het
Trim32 T C 4: 65,532,736 (GRCm39) L431P probably damaging Het
Vmn1r35 A G 6: 66,656,334 (GRCm39) L112S probably damaging Het
Vmn2r100 A C 17: 19,742,583 (GRCm39) H319P probably damaging Het
Wdr20rt A G 12: 65,274,039 (GRCm39) T328A probably benign Het
Zbtb17 T C 4: 141,192,293 (GRCm39) Y413H 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
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
R9063:Esr2 UTSW 12 76,168,590 (GRCm39) missense probably benign
Posted On 2015-04-16