Mutagenetix > Incidental Mutation

Incidental Mutation 'R6965:Esr2'

541962

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

045075-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76167193-76224033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76168631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 526 (D526G)

Ref Sequence

ENSEMBL: ENSMUSP00000151463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076634] [ENSMUST00000101291] [ENSMUST00000110421] [ENSMUST00000133564] [ENSMUST00000218621]

AlphaFold

O08537

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076634
AA Change: D508G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: D508G

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 damaging
Transcript: ENSMUST00000101291
AA Change: D507G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: D507G

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

possibly damaging
Transcript: ENSMUST00000110421
AA Change: D489G

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: D489G

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

SMART Domains

Protein: ENSMUSP00000138637
Gene: ENSMUSG00000021055

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 damaging
Transcript: ENSMUST00000218621
AA Change: D526G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,882,452 (GRCm39)	Q1205*	probably null	Het
Als2	A	G	1: 59,209,716 (GRCm39)	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,993,093 (GRCm39)	V68A	possibly damaging	Het
Atmin	T	C	8: 117,683,777 (GRCm39)	F479S	probably damaging	Het
Atp7b	T	C	8: 22,518,101 (GRCm39)	T234A	probably benign	Het
Bpifa1	G	A	2: 153,987,581 (GRCm39)	G144S	probably damaging	Het
Brf2	A	T	8: 27,614,586 (GRCm39)	M200K	probably benign	Het
C1ql2	G	A	1: 120,268,944 (GRCm39)	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,045,319 (GRCm39)	V269A	probably damaging	Het
Clcc1	T	C	3: 108,580,625 (GRCm39)	V313A	probably damaging	Het
Cntrl	A	T	2: 35,052,845 (GRCm39)	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533 (GRCm39)	E236K	probably damaging	Het
Comp	T	C	8: 70,829,164 (GRCm39)	L278P	probably damaging	Het
Csnk2a1-ps3	C	T	1: 156,352,119 (GRCm39)	R107*	probably null	Het
Dlg5	C	A	14: 24,199,498 (GRCm39)	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,186,782 (GRCm39)	V23D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epb41l4b	T	C	4: 57,040,915 (GRCm39)	Y516C	probably damaging	Het
Fam184b	T	C	5: 45,712,477 (GRCm39)	T514A	probably benign	Het
Fcmr	A	C	1: 130,803,724 (GRCm39)	E176A	possibly damaging	Het
Fry	T	A	5: 150,339,685 (GRCm39)	N1485K	possibly damaging	Het
Fut2	A	G	7: 45,300,305 (GRCm39)	C156R	probably damaging	Het
Gm5431	T	C	11: 48,786,027 (GRCm39)	Y116C	probably benign	Het
Gm5493	T	A	17: 22,967,047 (GRCm39)	V61E	possibly damaging	Het
Golga4	A	T	9: 118,377,847 (GRCm39)	Q456L	probably damaging	Het
Gpam	T	C	19: 55,063,041 (GRCm39)	Y757C	probably damaging	Het
Iqcg	C	T	16: 32,851,174 (GRCm39)	A266T	probably benign	Het
Lta4h	G	T	10: 93,307,759 (GRCm39)	G331*	probably null	Het
Macf1	C	A	4: 123,302,538 (GRCm39)	V655F	probably benign	Het
Map3k13	T	A	16: 21,740,900 (GRCm39)	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,202,597 (GRCm39)	L43F	probably damaging	Het
N4bp1	T	C	8: 87,571,461 (GRCm39)	R846G	probably damaging	Het
Nbn	T	C	4: 15,970,863 (GRCm39)	I282T	probably benign	Het
Ncor1	C	T	11: 62,244,059 (GRCm39)		probably null	Het
Or4a77	G	T	2: 89,487,009 (GRCm39)	P259T	probably damaging	Het
Or4d10c	A	G	19: 12,066,120 (GRCm39)	F12S	possibly damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Pclo	A	G	5: 14,731,976 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Ptch1	T	C	13: 63,672,881 (GRCm39)	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,551,284 (GRCm39)	D94N	probably damaging	Het
Rnpep	T	A	1: 135,190,858 (GRCm39)	K602*	probably null	Het
Rph3al	T	C	11: 75,745,276 (GRCm39)	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,324,737 (GRCm39)	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,509,859 (GRCm39)	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,986,513 (GRCm39)	H459R	probably damaging	Het
Spata31	A	C	13: 65,070,648 (GRCm39)	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,700,090 (GRCm39)	A963T	probably damaging	Het
Syne1	A	T	10: 5,179,120 (GRCm39)	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 54,014,266 (GRCm39)		probably null	Het
Thap12	T	A	7: 98,364,669 (GRCm39)	V279D	probably damaging	Het
Tmprss6	T	C	15: 78,328,328 (GRCm39)	D544G	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Txnrd1	T	C	10: 82,717,652 (GRCm39)	I212T	probably benign	Het
Unc80	T	C	1: 66,685,725 (GRCm39)	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,535,099 (GRCm39)	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Vmn2r79	T	A	7: 86,651,100 (GRCm39)	H166Q	probably benign	Het
Zer1	A	G	2: 29,991,059 (GRCm39)	V723A	possibly 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
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
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'- GGTACATGTCCCACTTCTGACC -3'
(R):5'- CTGGATGCATGAACAACAGACC -3'

Sequencing Primer
(F):5'- GACCATCATTGTAATCATCCGC -3'
(R):5'- TGCATGAACAACAGACCAATGG -3'

Posted On

2018-11-28