Mutagenetix > Incidental Mutation

Incidental Mutation 'R7487:Esrrg'

580218

Institutional Source

Beutler Lab

Gene Symbol

Esrrg

Ensembl Gene

ENSMUSG00000026610

Gene Name

estrogen-related receptor gamma

Synonyms

ERR3, estrogen-related receptor 3, Errg, NR3B3

MMRRC Submission

045561-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

187340988-187947082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 187878620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 234 (Y234N)

Ref Sequence

ENSEMBL: ENSMUSP00000027906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027906] [ENSMUST00000110938] [ENSMUST00000110939]

AlphaFold

P62509

PDB Structure

crystal structure of the ligand-binding domain of the estrogen-related receptor gamma in complex with diethylstilbestrol [X-RAY DIFFRACTION]
crystal structure of the ligand-binding domain of the estrogen-related receptor gamma in complex with 4-hydroxytamoxifen [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000027906
AA Change: Y234N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610
AA Change: Y234N

Domain	Start	End	E-Value	Type
low complexity region	57	70	N/A	INTRINSIC
ZnF_C4	125	196	4.04e-40	SMART
Blast:HOLI	203	233	5e-6	BLAST
HOLI	270	428	1.64e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110938
AA Change: Y211N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610
AA Change: Y211N

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
ZnF_C4	102	173	4.04e-40	SMART
Blast:HOLI	180	210	4e-6	BLAST
HOLI	247	405	1.64e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110939
AA Change: Y211N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610
AA Change: Y211N

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
ZnF_C4	102	173	4.04e-40	SMART
Blast:HOLI	180	210	4e-6	BLAST
HOLI	247	405	1.64e-40	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (89/89)

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 estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]
PHENOTYPE: Nullizygous mutations lead to postnatal lethality. Homozygotes for a null allele show reduced birth weight, fasting hyperlactatemia, altered electrocardiograms and mitochondrial function, and agenesis of the renal papilla. Surviving homozygotes for a different null allele exhibit hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,629 (GRCm39)	D606V	probably damaging	Het
1700009N14Rik	T	A	4: 39,450,929 (GRCm39)	V45E	probably damaging	Het
2510009E07Rik	C	T	16: 21,472,479 (GRCm39)	V74M	probably damaging	Het
Abca2	C	T	2: 25,327,915 (GRCm39)	T739M	probably benign	Het
Abra	T	C	15: 41,732,949 (GRCm39)	E39G	probably damaging	Het
Adam34	A	T	8: 44,104,191 (GRCm39)	C485S	probably damaging	Het
Add2	G	T	6: 86,070,432 (GRCm39)	V175F	possibly damaging	Het
Alk	T	A	17: 72,256,893 (GRCm39)	K655N	probably benign	Het
Ap3m1	A	G	14: 21,088,107 (GRCm39)	V317A	probably benign	Het
Astn1	A	G	1: 158,438,352 (GRCm39)		probably null	Het
Atm	A	T	9: 53,435,654 (GRCm39)	Y219N	probably benign	Het
Cep128	C	T	12: 90,966,404 (GRCm39)	A1068T	probably benign	Het
Cep20	T	C	16: 14,128,968 (GRCm39)	D85G	probably benign	Het
Cnksr3	T	C	10: 7,085,097 (GRCm39)	Q250R	probably benign	Het
Cst7	A	G	2: 150,419,624 (GRCm39)	T97A	probably benign	Het
Ctps1	G	A	4: 120,415,997 (GRCm39)	L209F	probably damaging	Het
Cyp2d10	A	T	15: 82,288,793 (GRCm39)	F230I	probably benign	Het
Daam2	T	C	17: 49,793,510 (GRCm39)	N336D	probably benign	Het
Dchs2	T	C	3: 83,263,613 (GRCm39)	S3294P	probably damaging	Het
Dhx36	G	T	3: 62,391,623 (GRCm39)	N574K	possibly damaging	Het
Dock10	G	T	1: 80,562,765 (GRCm39)	Q533K	probably benign	Het
Dync2h1	A	G	9: 7,132,041 (GRCm39)	S1589P	probably benign	Het
Enpp3	T	A	10: 24,681,821 (GRCm39)	Y295F	probably benign	Het
Fadd	A	C	7: 144,134,462 (GRCm39)	V141G	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam170b	T	A	14: 32,557,776 (GRCm39)	C204S	probably damaging	Het
Fam186a	T	A	15: 99,840,017 (GRCm39)	I2076F	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,519 (GRCm39)	V147I	possibly damaging	Het
Frem2	C	A	3: 53,561,970 (GRCm39)	V846F	probably benign	Het
Fry	G	A	5: 150,338,039 (GRCm39)	S1449N	possibly damaging	Het
Gucy1b2	A	G	14: 62,685,672 (GRCm39)	F98L	probably damaging	Het
Hps1	T	C	19: 42,744,700 (GRCm39)	Y658C	probably damaging	Het
Igkv3-9	T	A	6: 70,565,506 (GRCm39)	L35Q	probably damaging	Het
Irx2	A	G	13: 72,778,739 (GRCm39)	Y101C	probably damaging	Het
Kcnj11	G	T	7: 45,748,265 (GRCm39)	R353S	probably benign	Het
Kyat3	C	T	3: 142,431,955 (GRCm39)	Q228*	probably null	Het
Lama3	T	A	18: 12,552,294 (GRCm39)	D415E	probably benign	Het
Lcn3	G	A	2: 25,656,174 (GRCm39)		probably null	Het
Lin7b	T	C	7: 45,019,364 (GRCm39)	E68G	possibly damaging	Het
Lmbr1	T	A	5: 29,459,262 (GRCm39)	K379M	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Lrrc37a	T	G	11: 103,389,045 (GRCm39)	T2127P	unknown	Het
Map4	A	G	9: 109,856,783 (GRCm39)	D151G	probably damaging	Het
Marchf1	A	T	8: 66,908,726 (GRCm39)	T149S	probably benign	Het
Msh4	A	T	3: 153,569,147 (GRCm39)	F809I	probably damaging	Het
Muc16	G	A	9: 18,496,095 (GRCm39)	P6699S	possibly damaging	Het
Mxi1	A	T	19: 53,360,088 (GRCm39)	D270V	probably damaging	Het
Myh6	A	T	14: 55,190,953 (GRCm39)	C907*	probably null	Het
Myo18b	T	C	5: 112,982,299 (GRCm39)	R1145G	possibly damaging	Het
Nkx2-6	A	C	14: 69,409,389 (GRCm39)	N47H	probably benign	Het
Nol7	G	A	13: 43,552,076 (GRCm39)	A66T	probably damaging	Het
Ntrk3	T	C	7: 77,900,461 (GRCm39)	N626S	probably damaging	Het
Nwd1	A	G	8: 73,393,266 (GRCm39)	Y77C	unknown	Het
Or12d17	G	T	17: 37,777,457 (GRCm39)	R120L	probably damaging	Het
Or12k5	A	C	2: 36,894,786 (GRCm39)	V280G	probably damaging	Het
Or8c14-ps1	A	G	9: 38,101,356 (GRCm39)	S112G	probably damaging	Het
Or8j3b	A	T	2: 86,205,475 (GRCm39)	Y94N	probably damaging	Het
Or9s23	G	A	1: 92,501,517 (GRCm39)	G208D	possibly damaging	Het
Otop3	A	G	11: 115,235,826 (GRCm39)	D486G	probably benign	Het
Pak1ip1	A	G	13: 41,162,731 (GRCm39)	K178R	probably benign	Het
Pcsk1	G	A	13: 75,259,002 (GRCm39)	G259S	probably benign	Het
Pde6a	A	G	18: 61,383,031 (GRCm39)	D338G	probably damaging	Het
Pias4	A	T	10: 80,999,806 (GRCm39)	D82E	probably benign	Het
Plekha5	C	A	6: 140,516,059 (GRCm39)	Q771K	probably benign	Het
Plekhh3	C	A	11: 101,056,405 (GRCm39)	A397S	possibly damaging	Het
Prg4	G	T	1: 150,331,656 (GRCm39)	T339N	unknown	Het
Prss22	A	T	17: 24,216,971 (GRCm39)	I3N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rspo2	T	C	15: 42,941,510 (GRCm39)	T138A	probably benign	Het
Rtcb	C	T	10: 85,789,333 (GRCm39)	G70S	probably benign	Het
Selenov	A	T	7: 27,989,803 (GRCm39)	S234T	probably damaging	Het
Shtn1	T	C	19: 58,992,292 (GRCm39)	T429A	probably damaging	Het
Slc4a3	G	T	1: 75,530,021 (GRCm39)	R622L	probably benign	Het
Smc2	T	C	4: 52,478,448 (GRCm39)	I1015T	probably damaging	Het
Spata9	G	T	13: 76,115,959 (GRCm39)	V3F	possibly damaging	Het
Tlr4	T	C	4: 66,842,659 (GRCm39)	I105T	probably benign	Het
Trav6d-4	A	T	14: 52,991,096 (GRCm39)	Y47F	possibly damaging	Het
Ttn	A	T	2: 76,657,377 (GRCm39)	I12450N	unknown	Het
Umad1	G	T	6: 8,270,560 (GRCm39)	A21S	probably damaging	Het
Unc5a	G	A	13: 55,144,362 (GRCm39)	R229H	probably benign	Het
Vmn1r216	A	T	13: 23,284,030 (GRCm39)	M238L	probably damaging	Het
Vps16	T	A	2: 130,280,977 (GRCm39)	C255*	probably null	Het
Wdr89	A	G	12: 75,679,388 (GRCm39)	F289L	probably benign	Het
Zfp180	A	T	7: 23,805,525 (GRCm39)	H648L	probably damaging	Het
Zfp735	A	G	11: 73,581,154 (GRCm39)	K64E	possibly damaging	Het
Zfp990	G	A	4: 145,264,157 (GRCm39)	C385Y	probably damaging	Het
Zswim3	G	T	2: 164,662,135 (GRCm39)	S205I	probably damaging	Het

Other mutations in Esrrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Esrrg	APN	1	187,943,107 (GRCm39)	missense	probably damaging	1.00
IGL01635:Esrrg	APN	1	187,930,797 (GRCm39)	missense	probably damaging	1.00
IGL01642:Esrrg	APN	1	187,943,112 (GRCm39)	missense	probably benign	0.01
IGL02740:Esrrg	APN	1	187,930,938 (GRCm39)	missense	probably benign	0.04
IGL03126:Esrrg	APN	1	187,730,184 (GRCm39)	intron	probably benign
IGL03391:Esrrg	APN	1	187,882,420 (GRCm39)	missense	possibly damaging	0.70
R0395:Esrrg	UTSW	1	187,930,832 (GRCm39)	missense	probably damaging	1.00
R0645:Esrrg	UTSW	1	187,775,538 (GRCm39)	missense	probably benign	0.00
R1593:Esrrg	UTSW	1	187,798,582 (GRCm39)	missense	possibly damaging	0.94
R1700:Esrrg	UTSW	1	187,775,850 (GRCm39)	missense	probably damaging	1.00
R1855:Esrrg	UTSW	1	187,943,295 (GRCm39)	missense	probably damaging	1.00
R3552:Esrrg	UTSW	1	187,882,387 (GRCm39)	missense	probably benign	0.05
R3605:Esrrg	UTSW	1	187,943,299 (GRCm39)	missense	possibly damaging	0.74
R4384:Esrrg	UTSW	1	187,775,908 (GRCm39)	missense	probably damaging	1.00
R5255:Esrrg	UTSW	1	187,878,555 (GRCm39)	missense	probably damaging	1.00
R5443:Esrrg	UTSW	1	187,775,622 (GRCm39)	missense	possibly damaging	0.78
R5511:Esrrg	UTSW	1	187,943,304 (GRCm39)	missense	probably damaging	1.00
R5516:Esrrg	UTSW	1	187,930,927 (GRCm39)	missense	possibly damaging	0.56
R5543:Esrrg	UTSW	1	187,882,451 (GRCm39)	missense	probably damaging	0.96
R5686:Esrrg	UTSW	1	187,882,395 (GRCm39)	missense	probably benign	0.24
R5990:Esrrg	UTSW	1	187,930,995 (GRCm39)	missense	probably damaging	1.00
R6030:Esrrg	UTSW	1	187,930,904 (GRCm39)	missense	probably benign	0.04
R6030:Esrrg	UTSW	1	187,930,904 (GRCm39)	missense	probably benign	0.04
R7058:Esrrg	UTSW	1	187,882,503 (GRCm39)	missense	probably damaging	1.00
R8512:Esrrg	UTSW	1	187,775,777 (GRCm39)	nonsense	probably null
R8735:Esrrg	UTSW	1	187,933,205 (GRCm39)	intron	probably benign
R8973:Esrrg	UTSW	1	187,930,947 (GRCm39)	missense	possibly damaging	0.79
R8986:Esrrg	UTSW	1	187,943,104 (GRCm39)	missense	possibly damaging	0.60
R9114:Esrrg	UTSW	1	187,878,606 (GRCm39)	missense	possibly damaging	0.75
R9114:Esrrg	UTSW	1	187,878,605 (GRCm39)	missense	probably benign	0.01
R9483:Esrrg	UTSW	1	187,930,848 (GRCm39)	missense	probably damaging	0.97
R9760:Esrrg	UTSW	1	187,775,569 (GRCm39)	missense	probably benign
Z1088:Esrrg	UTSW	1	187,882,415 (GRCm39)	missense	probably benign	0.04
Z1177:Esrrg	UTSW	1	187,775,752 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTTTGAGTTCCACAGTCTGCC -3'
(R):5'- TCATTAGTTGGGTTGACACTACTC -3'

Sequencing Primer
(F):5'- CACTCCTGGGAGATGCAGTTG -3'
(R):5'- TGGGTTGACACTACTCTTTATAGAC -3'

Posted On

2019-10-07