Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Esrrg'

431199

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

043072-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

187340988-187947082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 187943304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 426 (L426F)

Ref Sequence

ENSEMBL: ENSMUSP00000106564 (fasta)

Gene Model

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

AlphaFold

P62509

Predicted Effect

probably damaging
Transcript: ENSMUST00000027906
AA Change: L449F

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

SMART Domains

Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610
AA Change: L449F

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 damaging
Transcript: ENSMUST00000110938
AA Change: L426F

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

SMART Domains

Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610
AA Change: L426F

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 damaging
Transcript: ENSMUST00000110939
AA Change: L426F

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

SMART Domains

Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610
AA Change: L426F

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

Meta Mutation Damage Score

0.6308

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,654,685 (GRCm39)	L173P	probably damaging	Het
Agl	A	T	3: 116,582,209 (GRCm39)	V271D	possibly damaging	Het
Alox15	G	T	11: 70,240,808 (GRCm39)	P191T	probably benign	Het
Apaf1	T	C	10: 90,890,254 (GRCm39)	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,070,375 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,365,848 (GRCm39)	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,756,583 (GRCm39)		probably benign	Het
Car11	T	C	7: 45,349,885 (GRCm39)	W35R	probably damaging	Het
Casc3	T	A	11: 98,701,740 (GRCm39)	Y91*	probably null	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cd22	A	T	7: 30,569,496 (GRCm39)	I540N	probably damaging	Het
Chad	A	T	11: 94,456,072 (GRCm39)	E50V	probably damaging	Het
Chd3	C	G	11: 69,252,301 (GRCm39)	G34R	probably damaging	Het
Col9a1	T	C	1: 24,218,619 (GRCm39)	V77A	unknown	Het
Copg1	G	A	6: 87,889,276 (GRCm39)	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,363,363 (GRCm39)	V3975E	probably damaging	Het
Dock6	A	T	9: 21,728,703 (GRCm39)	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,745,507 (GRCm39)	K150*	probably null	Het
Eri3	A	C	4: 117,472,386 (GRCm39)	Y260S	possibly damaging	Het
Farp1	G	T	14: 121,474,584 (GRCm39)	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,897 (GRCm39)	E2459G	probably damaging	Het
Glis1	G	A	4: 107,293,074 (GRCm39)	D66N	probably damaging	Het
Gm14129	T	A	2: 148,773,446 (GRCm39)		noncoding transcript	Het
Gm28051	A	G	12: 102,686,415 (GRCm39)	*82R	probably null	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gne	C	T	4: 44,041,843 (GRCm39)	V485M	probably damaging	Het
Lcn10	T	A	2: 25,572,841 (GRCm39)	V15E	probably benign	Het
Mapk11	T	A	15: 89,029,380 (GRCm39)		probably null	Het
Me3	T	G	7: 89,455,876 (GRCm39)	Y243D	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,483,958 (GRCm39)	L519*	probably null	Het
Myo9a	T	C	9: 59,687,495 (GRCm39)	V200A	probably damaging	Het
Mzf1	T	A	7: 12,785,526 (GRCm39)	Q161H	possibly damaging	Het
Nim1k	T	G	13: 120,189,130 (GRCm39)	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,811,532 (GRCm39)	R190L	probably damaging	Het
Noc3l	A	G	19: 38,782,625 (GRCm39)	V671A	probably benign	Het
Nsd1	T	C	13: 55,460,543 (GRCm39)	S2257P	probably benign	Het
Nup210	T	A	6: 91,003,945 (GRCm39)	I648F	probably damaging	Het
Oplah	T	C	15: 76,189,944 (GRCm39)	E223G	possibly damaging	Het
Or5b120	T	C	19: 13,480,556 (GRCm39)	M283T	probably benign	Het
Plekhs1	A	C	19: 56,474,224 (GRCm39)	T457P	probably damaging	Het
Plppr4	G	A	3: 117,119,551 (GRCm39)	T286I	probably benign	Het
Prpf4b	T	C	13: 35,068,037 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,878 (GRCm39)	D318E	possibly damaging	Het
Psap	A	G	10: 60,134,959 (GRCm39)	E289G	possibly damaging	Het
Rad17	A	G	13: 100,764,157 (GRCm39)	V438A	possibly damaging	Het
Raf1	T	C	6: 115,597,217 (GRCm39)	S28G	probably benign	Het
Ranbp2	A	G	10: 58,329,561 (GRCm39)	D2978G	probably benign	Het
Rnf170	T	A	8: 26,631,027 (GRCm39)	D213E	probably damaging	Het
Rsph3a	T	A	17: 8,164,905 (GRCm39)	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,395,198 (GRCm39)	I9T	probably benign	Het
Sgk3	T	C	1: 9,968,911 (GRCm39)		probably benign	Het
Slc14a1	C	T	18: 78,145,686 (GRCm39)	S416N	probably benign	Het
Smok4a	T	C	17: 13,746,474 (GRCm39)		noncoding transcript	Het
Sostdc1	A	T	12: 36,367,165 (GRCm39)	I114F	probably damaging	Het
Spen	G	A	4: 141,202,375 (GRCm39)	T2084I	possibly damaging	Het
Spen	G	T	4: 141,244,149 (GRCm39)	D295E	unknown	Het
Sptbn5	T	C	2: 119,890,202 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,101,184 (GRCm39)		probably benign	Het
Tcea3	A	T	4: 135,998,683 (GRCm39)	Y319F	probably damaging	Het
Timd4	T	A	11: 46,710,807 (GRCm39)		probably null	Het
Tmem88b	G	A	4: 155,870,002 (GRCm39)	P20S	probably damaging	Het
Tsen2	T	A	6: 115,538,365 (GRCm39)	C281S	probably damaging	Het
Vmn2r28	T	C	7: 5,487,011 (GRCm39)	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,832 (GRCm39)	H732R	probably benign	Het
Wdr90	A	G	17: 26,063,995 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,344,836 (GRCm39)	S1072P	probably benign	Het
Zfp148	A	G	16: 33,255,004 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,790,851 (GRCm39)	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,740,499 (GRCm39)	F599L	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
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
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'- TGTGGAAGCTGTGCAGAAAC -3'
(R):5'- TCAGGAAGATGTAGCGGAATCC -3'

Sequencing Primer
(F):5'- GTGCAGAAACTTCAGGATGTGTTAC -3'
(R):5'- CAGGCTGCATCGTACTGTG -3'

Posted On

2016-10-05