Incidental Mutation 'IGL02343:Esr2'
| ID |
289180 |
| 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)
|
| Stock # |
IGL02343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
76167193-76224033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76192119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 303
(R303H)
|
| 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: R303H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: R303H
| Domain | Start | End | E-Value | Type |
|---|
|
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: R284H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: R284H
| Domain | Start | End | E-Value | Type |
|---|
|
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: R284H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: R284H
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: R284H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138637
Gene: ENSMUSG00000021055
AA Change: R284H
| Domain | Start | End | E-Value | Type |
|---|
|
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: R303H
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
T |
A |
2: 22,977,507 (GRCm39) |
N168K |
possibly damaging |
Het |
| Aig1 |
T |
C |
10: 13,744,418 (GRCm39) |
M29V |
probably damaging |
Het |
| Albfm1 |
C |
A |
5: 90,727,473 (GRCm39) |
H364N |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,894 (GRCm39) |
E28G |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,423 (GRCm39) |
N45S |
possibly damaging |
Het |
| Cables2 |
A |
G |
2: 179,902,072 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,596,237 (GRCm39) |
|
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,331 (GRCm39) |
N259D |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,078,654 (GRCm39) |
*563R |
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,262,425 (GRCm39) |
A115T |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,257,266 (GRCm39) |
V101E |
possibly damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,421,026 (GRCm39) |
Y38C |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,155,312 (GRCm39) |
Y130C |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,475,123 (GRCm39) |
T366A |
probably benign |
Het |
| Fbxo41 |
T |
G |
6: 85,455,153 (GRCm39) |
L617F |
possibly damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,381,723 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,070,024 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
T |
9: 86,536,694 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Muc19 |
T |
G |
15: 91,778,428 (GRCm39) |
|
noncoding transcript |
Het |
| Myo15b |
A |
G |
11: 115,764,226 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,490 (GRCm39) |
L1264* |
probably null |
Het |
| Nhlrc4 |
T |
C |
17: 26,162,335 (GRCm39) |
*137W |
probably null |
Het |
| Nrxn3 |
A |
G |
12: 88,762,123 (GRCm39) |
T57A |
probably damaging |
Het |
| Or10g3 |
T |
A |
14: 52,609,934 (GRCm39) |
D192V |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,508,825 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,766,047 (GRCm39) |
|
probably null |
Het |
| S100a9 |
T |
C |
3: 90,602,531 (GRCm39) |
H21R |
probably damaging |
Het |
| Spz1 |
T |
A |
13: 92,712,054 (GRCm39) |
M141L |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,030,695 (GRCm39) |
Y305C |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,869,588 (GRCm39) |
Q218R |
probably damaging |
Het |
| T |
C |
A |
17: 8,658,732 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,066,704 (GRCm39) |
D2298G |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,200,030 (GRCm39) |
L16Q |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,538 (GRCm39) |
I163V |
probably benign |
Het |
| Vwc2 |
T |
A |
11: 11,066,532 (GRCm39) |
C207S |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,849 (GRCm39) |
I1920T |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,844 (GRCm39) |
E200G |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,815,574 (GRCm39) |
C792Y |
probably damaging |
Het |
|
| Other mutations in Esr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
Incidental Mutation