Mutagenetix > Incidental Mutation

Incidental Mutation 'R1700:Esrrg'

189621

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

039733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

187340988-187947082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 187775850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 103 (R103G)

Ref Sequence

ENSEMBL: ENSMUSP00000106564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027906] [ENSMUST00000110938] [ENSMUST00000110939] [ENSMUST00000127489]

AlphaFold

P62509

Predicted Effect

probably damaging
Transcript: ENSMUST00000027906
AA Change: R126G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610
AA Change: R126G

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: R103G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610
AA Change: R103G

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: R103G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610
AA Change: R103G

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: ENSMUST00000127489

SMART Domains

Protein: ENSMUSP00000119286
Gene: ENSMUSG00000026610

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,899,537 (GRCm39)	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,143 (GRCm39)	I211N	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alas1	C	T	9: 106,116,845 (GRCm39)	V293I	possibly damaging	Het
Ap1g1	T	C	8: 110,580,244 (GRCm39)	Y569H	probably damaging	Het
Apc2	A	G	10: 80,148,603 (GRCm39)	D1190G	probably damaging	Het
Astn2	G	A	4: 65,664,591 (GRCm39)	Q679*	probably null	Het
Atp2a1	T	A	7: 126,062,081 (GRCm39)	H5L	probably damaging	Het
Baiap3	T	C	17: 25,468,302 (GRCm39)	K279E	probably damaging	Het
C2cd2l	G	A	9: 44,227,909 (GRCm39)	P111S	probably benign	Het
C7	T	A	15: 5,032,274 (GRCm39)	K646*	probably null	Het
Ccp110	C	T	7: 118,334,536 (GRCm39)	T1003I	probably damaging	Het
Cdh22	T	C	2: 165,012,716 (GRCm39)	D123G	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Clip1	A	G	5: 123,768,433 (GRCm39)	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,592,901 (GRCm39)	F174S	probably benign	Het
Ctnna3	T	C	10: 63,688,551 (GRCm39)	C332R	probably damaging	Het
Cxcl10	A	T	5: 92,495,714 (GRCm39)	N76K	probably damaging	Het
Dnaaf9	G	A	2: 130,551,858 (GRCm39)	L1010F	probably damaging	Het
Dnaja3	G	A	16: 4,502,029 (GRCm39)	R11K	probably null	Het
Efcab10	A	G	12: 33,445,170 (GRCm39)	T28A	possibly damaging	Het
Exosc2	A	G	2: 31,560,818 (GRCm39)	K23E	probably benign	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,822,081 (GRCm39)	V5938A	probably benign	Het
Gclc	A	G	9: 77,683,571 (GRCm39)	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gucy2e	A	T	11: 69,122,884 (GRCm39)	M497K	probably benign	Het
Herc1	T	A	9: 66,357,960 (GRCm39)		probably null	Het
Hnrnpll	A	C	17: 80,341,534 (GRCm39)	S502A	probably benign	Het
Ipo11	G	T	13: 106,932,170 (GRCm39)	T975N	probably benign	Het
Kif17	C	T	4: 137,990,009 (GRCm39)	Q66*	probably null	Het
Lrp10	T	C	14: 54,707,209 (GRCm39)	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,230,677 (GRCm39)	L75Q	probably damaging	Het
Med16	A	T	10: 79,735,169 (GRCm39)	Y430N	probably benign	Het
Med8	C	T	4: 118,269,931 (GRCm39)	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,443,682 (GRCm39)	T253A	probably damaging	Het
Myf6	T	C	10: 107,329,220 (GRCm39)	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,587 (GRCm39)	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,035,855 (GRCm39)	Y48N	probably damaging	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or51q1c	T	A	7: 103,653,329 (GRCm39)	Y282*	probably null	Het
Or5as1	T	G	2: 86,980,123 (GRCm39)	N294T	probably damaging	Het
Pde4dip	T	C	3: 97,610,639 (GRCm39)	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,618,651 (GRCm39)	L2P	probably damaging	Het
Piezo1	C	T	8: 123,214,241 (GRCm39)	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,333,990 (GRCm39)	M213K	probably damaging	Het
Polr1b	A	G	2: 128,965,041 (GRCm39)	N709S	probably damaging	Het
Pramel1	T	A	4: 143,124,999 (GRCm39)	W308R	probably damaging	Het
Prkag2	A	T	5: 25,076,539 (GRCm39)	I208N	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864 (GRCm39)	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,392,494 (GRCm39)	*345Q	probably null	Het
Rrp1b	A	G	17: 32,276,178 (GRCm39)	K575R	probably benign	Het
Shd	G	A	17: 56,281,307 (GRCm39)	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,834,296 (GRCm39)	N749K	possibly damaging	Het
Sorbs2	T	A	8: 46,254,021 (GRCm39)	V488D	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Srsf4	C	A	4: 131,627,871 (GRCm39)		probably benign	Het
Strn	T	C	17: 78,999,831 (GRCm39)	Y135C	probably damaging	Het
Synm	T	C	7: 67,409,376 (GRCm39)	M1V	probably null	Het
Tas1r3	T	G	4: 155,946,027 (GRCm39)	Q489P	probably benign	Het
Tas2r103	A	T	6: 133,013,774 (GRCm39)	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,870,755 (GRCm39)	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,268,446 (GRCm39)	E112G	probably damaging	Het
Trappc8	T	C	18: 20,966,055 (GRCm39)	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,279,025 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,434,018 (GRCm39)	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,180,023 (GRCm39)	I56V	possibly damaging	Het
Uri1	T	C	7: 37,662,949 (GRCm39)	I348M	probably damaging	Het
Usp21	C	A	1: 171,111,295 (GRCm39)	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,542,390 (GRCm39)	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,341,900 (GRCm39)	E93G	unknown	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
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
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'- GTCCTTCATCAAGACGGAACCCTC -3'
(R):5'- CAACCTACTATGCACTGCTCAGCTC -3'

Sequencing Primer
(F):5'- CAGTGGGAGTTACAGTTCAACC -3'
(R):5'- CAGACCTACTATGCTCTCTGAAATG -3'

Posted On

2014-05-14