Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Esrrg'

682563

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

068583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

187340988-187947082 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 187933205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106564 (fasta)

Gene Model

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

AlphaFold

P62509

Predicted Effect

probably benign
Transcript: ENSMUST00000027906

SMART Domains

Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610

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

SMART Domains

Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610

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

SMART Domains

Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,731 (GRCm39)	F9S	unknown	Het
Abhd10	A	G	16: 45,557,997 (GRCm39)	F101L	probably damaging	Het
Acp2	A	G	2: 91,034,651 (GRCm39)	T93A	probably benign	Het
Adamts9	C	T	6: 92,837,048 (GRCm39)		probably benign	Het
Aknad1	T	A	3: 108,682,615 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,822,785 (GRCm39)	T485S	probably benign	Het
Caly	G	A	7: 139,652,503 (GRCm39)	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,786,343 (GRCm39)	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,438,775 (GRCm39)	L869*	probably null	Het
Cxxc1	A	G	18: 74,350,331 (GRCm39)	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,533 (GRCm39)		probably null	Het
Cyp4a30b	G	A	4: 115,309,976 (GRCm39)	W59*	probably null	Het
Dennd4b	T	C	3: 90,185,172 (GRCm39)	V1204A	probably damaging	Het
Dpyd	T	A	3: 118,935,565 (GRCm39)	D663E	possibly damaging	Het
Exoc2	A	C	13: 31,090,822 (GRCm39)	L261V	probably damaging	Het
Exosc9	T	C	3: 36,609,662 (GRCm39)	L185S	probably damaging	Het
Gcnt3	T	C	9: 69,941,728 (GRCm39)	K280R	probably benign	Het
Ighv1-64	A	T	12: 115,471,217 (GRCm39)	M100K	probably benign	Het
Impdh2	G	A	9: 108,441,978 (GRCm39)		probably null	Het
Itsn2	T	A	12: 4,721,474 (GRCm39)	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,584,783 (GRCm39)	C169R	probably damaging	Het
Kndc1	A	G	7: 139,490,130 (GRCm39)	S211G	probably benign	Het
Lama2	T	A	10: 27,066,530 (GRCm39)	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lsg1	T	A	16: 30,399,865 (GRCm39)		probably null	Het
Mab21l4	C	T	1: 93,082,208 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,411,374 (GRCm39)	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,964,062 (GRCm39)	F464I	probably benign	Het
Mycbp2	T	A	14: 103,460,586 (GRCm39)	K1493N	probably damaging	Het
Myo15a	A	T	11: 60,401,679 (GRCm39)		probably null	Het
Myo1b	A	T	1: 51,794,896 (GRCm39)	F1065I	probably benign	Het
Nf1	A	G	11: 79,345,136 (GRCm39)		probably benign	Het
Nup153	C	A	13: 46,881,027 (GRCm39)		probably benign	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or5b97	A	G	19: 12,878,274 (GRCm39)	V290A	possibly damaging	Het
Osbpl7	A	G	11: 96,943,194 (GRCm39)	T149A	probably benign	Het
Parp1	A	G	1: 180,396,690 (GRCm39)	D31G	probably benign	Het
Pcdha6	T	A	18: 37,101,203 (GRCm39)	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,489,975 (GRCm39)	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,311,808 (GRCm39)	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,197,049 (GRCm39)	T162S	probably benign	Het
Pi4ka	C	T	16: 17,136,234 (GRCm39)	R908Q		Het
Pnpla8	A	G	12: 44,330,222 (GRCm39)	E258G	probably benign	Het
Prrc2c	A	T	1: 162,537,127 (GRCm39)	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964 (GRCm39)	I970S	possibly damaging	Het
Robo2	A	T	16: 73,755,247 (GRCm39)	V758D	probably damaging	Het
Robo4	G	A	9: 37,319,577 (GRCm39)	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,830,920 (GRCm39)	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Ryr2	C	A	13: 11,701,833 (GRCm39)	E2941D	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,825,687 (GRCm39)	V561I	probably benign	Het
Slc4a4	T	A	5: 89,280,301 (GRCm39)	D366E	probably damaging	Het
Slfn14	T	G	11: 83,174,715 (GRCm39)	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,077,770 (GRCm39)	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,453,410 (GRCm39)	L309P	possibly damaging	Het
Smyd3	G	T	1: 178,920,482 (GRCm39)	N217K	probably benign	Het
Spen	T	C	4: 141,197,129 (GRCm39)	T3547A	probably benign	Het
Suclg1	A	T	6: 73,253,729 (GRCm39)	I126F	unknown	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmprss15	A	T	16: 78,798,702 (GRCm39)	I660N	possibly damaging	Het
Trf	A	T	9: 103,087,723 (GRCm39)	V677D	probably damaging	Het
Trim36	T	C	18: 46,302,452 (GRCm39)	N532S	probably benign	Het
Trim37	T	C	11: 87,037,885 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,570,454 (GRCm39)	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,567,537 (GRCm39)	V277D	probably damaging	Het
Wdfy3	T	C	5: 102,077,951 (GRCm39)	D873G	probably benign	Het
Wdr27	T	C	17: 15,103,929 (GRCm39)	T726A	probably damaging	Het
Wdr97	T	C	15: 76,240,775 (GRCm39)	Y488H		Het
Wdtc1	A	T	4: 133,031,511 (GRCm39)	C236*	probably null	Het
Wnk4	A	C	11: 101,167,092 (GRCm39)	S1083R	unknown	Het
Wwc1	A	T	11: 35,774,234 (GRCm39)	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,725,957 (GRCm39)	L534P	probably damaging	Het
Zfp62	T	C	11: 49,108,227 (GRCm39)	C773R	probably damaging	Het
Zfp709	T	A	8: 72,643,027 (GRCm39)	I152N	probably benign	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,503,625 (GRCm39)	S645A	probably benign	Het
Zw10	A	G	9: 48,988,861 (GRCm39)	Y709C	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
R7487:Esrrg	UTSW	1	187,878,620 (GRCm39)	missense	probably benign	0.03
R8512:Esrrg	UTSW	1	187,775,777 (GRCm39)	nonsense	probably null
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'- AGGACACAGTGAAGACTTTCC -3'
(R):5'- TGCGCTCACAGCAATATACC -3'

Sequencing Primer
(F):5'- ACAGTGAAGACTTTCCTGCCTCAC -3'
(R):5'- ACCCATAAGCATTTAAGATACTCAAG -3'

Posted On

2021-09-30