Mutagenetix > Incidental Mutation

Incidental Mutation 'R6928:Esr2'

539858

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

045045-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76167193-76224033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76212252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 188 (C188Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151463 (fasta)

Gene Model

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

AlphaFold

O08537

Predicted Effect

probably damaging
Transcript: ENSMUST00000076634
AA Change: C188Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075932
Gene: ENSMUSG00000021055
AA Change: C188Y

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: C169Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098849
Gene: ENSMUSG00000021055
AA Change: C169Y

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 damaging
Transcript: ENSMUST00000110421
AA Change: C169Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106051
Gene: ENSMUSG00000021055
AA Change: C169Y

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: ENSMUST00000133564
AA Change: C169Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138637
Gene: ENSMUSG00000021055
AA Change: C169Y

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: C188Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,456,257 (GRCm39)	D215G	possibly damaging	Het
Asb3	A	T	11: 30,948,326 (GRCm39)	M40L	probably damaging	Het
Aspg	G	A	12: 112,093,123 (GRCm39)	V547M	possibly damaging	Het
Aspm	T	A	1: 139,407,944 (GRCm39)	L2277*	probably null	Het
Atp7b	A	G	8: 22,484,828 (GRCm39)	S1295P	probably benign	Het
Cdca2	A	G	14: 67,943,193 (GRCm39)	S199P	probably damaging	Het
Cdh1	A	G	8: 107,387,642 (GRCm39)	E514G	possibly damaging	Het
Cenpk	G	T	13: 104,365,500 (GRCm39)		probably benign	Het
Col6a5	C	A	9: 105,817,118 (GRCm39)	V398L	unknown	Het
Colec10	A	T	15: 54,326,002 (GRCm39)	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Cspg4	T	A	9: 56,805,164 (GRCm39)	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,641,683 (GRCm39)	R333L	probably benign	Het
Espl1	C	T	15: 102,207,342 (GRCm39)	R269C	probably benign	Het
Focad	A	G	4: 88,267,112 (GRCm39)	D1041G	unknown	Het
Frem3	T	C	8: 81,337,911 (GRCm39)	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,139,634 (GRCm39)	V212A	probably damaging	Het
Gzmb	T	C	14: 56,497,734 (GRCm39)	K169E	probably benign	Het
Hexd	T	A	11: 121,102,880 (GRCm39)	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,718,269 (GRCm39)	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372 (GRCm39)	V378A	probably benign	Het
Kcnmb2	T	C	3: 32,253,190 (GRCm39)	S177P	probably benign	Het
Lrriq1	A	T	10: 103,050,800 (GRCm39)	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,340,593 (GRCm39)		probably null	Het
Mib1	T	G	18: 10,802,282 (GRCm39)	S870A	probably benign	Het
Moap1	T	A	12: 102,708,871 (GRCm39)	N226I	probably damaging	Het
Moxd1	T	A	10: 24,176,186 (GRCm39)	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,781,042 (GRCm39)	V16A	probably benign	Het
Nme1	T	C	11: 93,850,229 (GRCm39)	Y151C	probably damaging	Het
Nwd1	T	C	8: 73,408,653 (GRCm39)	F879L	probably benign	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or52ac1	A	T	7: 104,245,796 (GRCm39)	Y197*	probably null	Het
Or5ac25	C	A	16: 59,181,826 (GRCm39)	G252C	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b99	A	G	19: 12,977,202 (GRCm39)	N284S	probably damaging	Het
Or8d23	T	C	9: 38,841,862 (GRCm39)	Y132H	probably damaging	Het
Or8g21	T	C	9: 38,905,928 (GRCm39)	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,647,474 (GRCm39)	E201G	probably damaging	Het
Plscr1	T	C	9: 92,152,004 (GRCm39)	V301A	possibly damaging	Het
Psg28	A	T	7: 18,157,003 (GRCm39)	S411T	possibly damaging	Het
Rif1	T	C	2: 51,985,973 (GRCm39)	W653R	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rtn4	A	G	11: 29,656,791 (GRCm39)	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,763,344 (GRCm39)	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,160,382 (GRCm39)	I524T	probably damaging	Het
Speer4a2	A	G	5: 26,290,586 (GRCm39)		probably null	Het
Spg11	C	T	2: 121,900,385 (GRCm39)	V1556I	probably benign	Het
Spopfm1	T	A	3: 94,173,855 (GRCm39)	C288S	probably benign	Het
Srebf2	C	T	15: 82,087,924 (GRCm39)	R215*	probably null	Het
Tdpoz8	G	A	3: 92,981,267 (GRCm39)	C95Y	probably damaging	Het
Tmem19	T	C	10: 115,183,179 (GRCm39)	N147S	possibly damaging	Het
Tpr	T	C	1: 150,284,536 (GRCm39)	S408P	possibly damaging	Het
Trav13d-4	C	T	14: 53,310,618 (GRCm39)	T53I	probably damaging	Het
Trf	T	A	9: 103,099,307 (GRCm39)	R168W	possibly damaging	Het
Trim11	A	G	11: 58,879,669 (GRCm39)	K273R	probably damaging	Het
Tsacc	T	A	3: 88,190,247 (GRCm39)	M68L	probably benign	Het
Ttn	T	A	2: 76,584,869 (GRCm39)	M22110L	probably benign	Het
Zfp160	G	T	17: 21,261,724 (GRCm39)	G104V	probably benign	Het
Zfp582	T	C	7: 6,357,266 (GRCm39)	Y360H	probably damaging	Het
Zranb1	G	A	7: 132,568,323 (GRCm39)	R301H	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGAGTAGAAACAAGCAATCC -3'
(R):5'- TCCTTTGACAATGGCTGTGTTC -3'

Sequencing Primer
(F):5'- GAGTAGAAACAAGCAATCCAGACATC -3'
(R):5'- ACAATGGCTGTGTTCTCTGC -3'

Posted On

2018-11-06