Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Esrrg'

480304

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

044202-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

187340988-187947082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 187930904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 309 (M309V)

Ref Sequence

ENSEMBL: ENSMUSP00000106564 (fasta)

Gene Model

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

AlphaFold

P62509

Predicted Effect

probably benign
Transcript: ENSMUST00000027906
AA Change: M332V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610
AA Change: M332V

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: M309V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610
AA Change: M309V

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: M309V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610
AA Change: M309V

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: 99.9%
3x: 99.4%
10x: 96.1%
20x: 86.0%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,133,021 (GRCm39)	N1317D	probably benign	Het
Abhd8	T	A	8: 71,910,794 (GRCm39)	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,493,346 (GRCm39)	N297K	probably damaging	Het
Agap1	A	G	1: 89,558,156 (GRCm39)	D148G	probably damaging	Het
Alox12	T	C	11: 70,145,417 (GRCm39)	D52G	possibly damaging	Het
Ano5	T	A	7: 51,224,573 (GRCm39)	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,255,968 (GRCm39)		probably null	Het
Atp4a	G	C	7: 30,421,941 (GRCm39)	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,657,060 (GRCm39)	D256G	probably damaging	Het
Bckdha	T	A	7: 25,330,866 (GRCm39)	D50V	probably damaging	Het
Cast	A	G	13: 74,844,056 (GRCm39)	S693P	possibly damaging	Het
Cfap251	C	T	5: 123,412,267 (GRCm39)	T532M	probably damaging	Het
Col6a1	T	C	10: 76,545,700 (GRCm39)	Y924C	unknown	Het
Crkl	A	G	16: 17,270,604 (GRCm39)	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,761,541 (GRCm39)	F32L	probably benign	Het
Dmxl2	C	T	9: 54,300,957 (GRCm39)	V2385I	probably benign	Het
Dnah1	T	A	14: 30,989,984 (GRCm39)	I3219F	probably damaging	Het
Dnah17	C	T	11: 117,916,375 (GRCm39)	R4266H	probably benign	Het
Efcab5	A	G	11: 77,012,088 (GRCm39)	L722P	probably damaging	Het
Emilin3	C	A	2: 160,751,105 (GRCm39)	V215L	probably benign	Het
Entr1	T	C	2: 26,276,983 (GRCm39)	D249G	possibly damaging	Het
Esr1	A	T	10: 4,696,622 (GRCm39)	N157I	possibly damaging	Het
Fam120b	G	A	17: 15,622,172 (GRCm39)	R50Q	probably damaging	Het
Fat2	G	T	11: 55,201,129 (GRCm39)	Y648*	probably null	Het
Gbp2b	T	A	3: 142,309,414 (GRCm39)	I175N	probably benign	Het
Gm1043	T	A	5: 37,311,952 (GRCm39)		probably benign	Het
Gm21060	A	G	19: 61,285,411 (GRCm39)	C33R	possibly damaging	Het
Gpx6	C	T	13: 21,496,510 (GRCm39)	S28L	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifi44	T	C	3: 151,455,195 (GRCm39)	Q10R	probably benign	Het
Impa2	T	C	18: 67,451,498 (GRCm39)	V264A	probably benign	Het
Khdc1a	A	T	1: 21,421,108 (GRCm39)	M98L	probably benign	Het
Lrrc45	T	A	11: 120,611,474 (GRCm39)	L616*	probably null	Het
Mios	A	T	6: 8,215,704 (GRCm39)	H300L	probably benign	Het
Mllt6	A	T	11: 97,568,051 (GRCm39)	T827S	probably damaging	Het
Mrc1	C	A	2: 14,321,712 (GRCm39)	D1068E	probably benign	Het
Ndst3	T	C	3: 123,346,168 (GRCm39)	Y702C	probably damaging	Het
Nek11	T	A	9: 105,082,087 (GRCm39)		probably null	Het
Nek4	T	C	14: 30,678,890 (GRCm39)	F138S	probably damaging	Het
Nfatc4	T	A	14: 56,069,897 (GRCm39)	Y688*	probably null	Het
Nlrx1	C	T	9: 44,175,057 (GRCm39)	V240M	probably damaging	Het
Npy6r	A	T	18: 44,409,149 (GRCm39)	Y190F	probably benign	Het
Or10ab5	A	C	7: 108,245,433 (GRCm39)	S117A	possibly damaging	Het
Or10d4b	T	C	9: 39,534,637 (GRCm39)	F71L	probably damaging	Het
Or1j10	T	G	2: 36,267,556 (GRCm39)	L256R	probably damaging	Het
Or52b4i	C	A	7: 102,191,817 (GRCm39)	R225S	probably benign	Het
Or5p52	A	G	7: 107,502,620 (GRCm39)	E232G	probably benign	Het
Or6c68	A	T	10: 129,158,238 (GRCm39)	T249S	probably benign	Het
Osbpl7	A	C	11: 96,943,087 (GRCm39)	H113P	probably benign	Het
Pam16l	C	T	10: 43,400,252 (GRCm39)	A30V	probably benign	Het
Pck1	A	G	2: 172,996,650 (GRCm39)	E188G	probably benign	Het
Pimreg	A	G	11: 71,936,576 (GRCm39)	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,769,976 (GRCm39)	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,441,005 (GRCm39)	Q622*	probably null	Het
Ppfia2	T	A	10: 106,742,338 (GRCm39)	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,024,659 (GRCm39)	V280A	probably damaging	Het
Ptprf	T	C	4: 118,068,245 (GRCm39)	N1764D	probably benign	Het
Pygm	C	T	19: 6,438,842 (GRCm39)	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,626,299 (GRCm39)	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Setbp1	T	G	18: 78,900,926 (GRCm39)	I914L	probably benign	Het
Shprh	A	C	10: 11,027,735 (GRCm39)	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,742,725 (GRCm39)	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,657,985 (GRCm39)		probably null	Het
Spin1	T	A	13: 51,293,552 (GRCm39)	Y87*	probably null	Het
Spring1	T	C	5: 118,393,798 (GRCm39)	W59R	probably damaging	Het
Srebf2	T	C	15: 82,061,477 (GRCm39)		probably null	Het
Sufu	T	C	19: 46,463,978 (GRCm39)	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,110,624 (GRCm39)	V242G	probably benign	Het
Tgm3	A	T	2: 129,883,920 (GRCm39)	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,967 (GRCm39)	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799 (GRCm39)	D454G	probably benign	Het
Ttn	T	C	2: 76,646,943 (GRCm39)	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Umps	A	G	16: 33,782,508 (GRCm39)	V138A	probably benign	Het
Ypel1	A	G	16: 16,902,377 (GRCm39)		probably null	Het
Zdhhc19	T	A	16: 32,317,860 (GRCm39)	L63Q	probably null	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
R7058:Esrrg	UTSW	1	187,882,503 (GRCm39)	missense	probably damaging	1.00
R7487:Esrrg	UTSW	1	187,878,620 (GRCm39)	missense	probably benign	0.03
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

Posted On

2017-06-26