Incidental Mutation 'R8973:Esrrg'
ID 683219
Institutional Source Beutler Lab
Gene Symbol Esrrg
Ensembl Gene ENSMUSG00000026610
Gene Name estrogen-related receptor gamma
Synonyms ERR3, estrogen-related receptor 3, NR3B3, Errg
MMRRC Submission 068807-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8973 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 187608791-188214885 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 188198750 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 346 (N346T)
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 possibly damaging
Transcript: ENSMUST00000027906
AA Change: N346T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610
AA Change: N346T

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
SMART Domains Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610
AA Change: N323T

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 possibly damaging
Transcript: ENSMUST00000110939
AA Change: N323T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610
AA Change: N323T

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: 98.5%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik T G 18: 57,592,067 L123V possibly damaging Het
1810022K09Rik C T 3: 14,607,245 V97I probably benign Het
2410089E03Rik T C 15: 8,203,793 W1201R probably damaging Het
4930404N11Rik T C 10: 81,364,015 D129G unknown Het
Adamts16 A T 13: 70,738,840 I975N probably benign Het
Adcy8 A G 15: 64,699,135 *1250Q probably null Het
Anapc1 A T 2: 128,664,032 I628N probably damaging Het
Ankrd39 C T 1: 36,539,358 probably benign Het
Ankub1 A T 3: 57,665,511 S263R possibly damaging Het
Aoah A G 13: 20,840,155 I94V probably benign Het
Aox2 A G 1: 58,289,954 D186G probably benign Het
Arap2 A T 5: 62,698,325 C589* probably null Het
Armt1 T C 10: 4,439,550 L69P probably damaging Het
Atxn7l3 T A 11: 102,292,772 Y185F probably benign Het
BC067074 A G 13: 113,319,759 T780A Het
Cacna2d4 A G 6: 119,241,181 D159G probably damaging Het
Camta2 C A 11: 70,670,358 R1184L probably benign Het
Ccr7 G A 11: 99,145,823 T91I probably damaging Het
Cdh9 A G 15: 16,831,045 T323A possibly damaging Het
Cep250 C T 2: 155,970,122 A446V unknown Het
Clec2e C A 6: 129,093,411 G216* probably null Het
Col25a1 T C 3: 130,475,626 S176P unknown Het
Col4a3 A C 1: 82,715,331 I1446L probably benign Het
Cse1l A G 2: 166,943,080 E823G probably damaging Het
Dchs2 A G 3: 83,354,456 E2677G possibly damaging Het
Dis3l T C 9: 64,339,542 E77G probably damaging Het
Dnah6 T C 6: 73,144,751 D1416G probably benign Het
Dpyd T C 3: 119,314,933 probably null Het
Dst A G 1: 34,228,855 D3112G probably damaging Het
Dusp13 A C 14: 21,734,906 N128K probably benign Het
Emilin2 T G 17: 71,275,084 K216Q probably benign Het
Enam T C 5: 88,494,088 W254R possibly damaging Het
Fbn2 C T 18: 58,153,856 G244R probably damaging Het
Fbxw25 A G 9: 109,650,064 L373P Het
Gm21060 C A 19: 61,296,928 V48L possibly damaging Het
Gm30302 A T 13: 49,788,239 D80E probably benign Het
Gtpbp3 T C 8: 71,491,162 V254A possibly damaging Het
H2-DMb2 A G 17: 34,148,725 D171G probably damaging Het
Hrg A T 16: 22,959,218 T242S probably benign Het
Inf2 G T 12: 112,607,515 C751F unknown Het
Krt13 A T 11: 100,119,438 M239K possibly damaging Het
Lrrc72 A G 12: 36,253,294 S7P probably benign Het
Matn2 A G 15: 34,433,050 I867V probably benign Het
Mdh2 C T 5: 135,790,165 A325V possibly damaging Het
Mki67 C A 7: 135,695,635 A2557S possibly damaging Het
Mrpl16 A T 19: 11,772,943 R64* probably null Het
Nav1 T C 1: 135,584,725 D199G probably benign Het
Nbn T C 4: 15,986,585 V662A probably damaging Het
Nek10 G A 14: 14,931,321 probably null Het
Olfr141 C A 2: 86,806,856 V48F probably benign Het
Olfr298 A G 7: 86,489,279 S91P probably damaging Het
Olfr834 C A 9: 18,988,678 S230* probably null Het
Olfr884 T A 9: 38,047,543 V107D possibly damaging Het
Pcsk7 T G 9: 45,927,642 S617R probably benign Het
Pde10a C A 17: 8,924,239 Q6K probably benign Het
Pigq A C 17: 25,932,167 M396R probably damaging Het
Pkhd1l1 T A 15: 44,586,437 D3865E probably damaging Het
Prag1 C T 8: 36,099,590 probably benign Het
Rint1 A G 5: 23,811,730 T498A probably benign Het
Rnf213 T A 11: 119,461,930 F3921I Het
Rpp14 A G 14: 8,088,768 S95G probably benign Het
Ryk T G 9: 102,861,921 Y78D possibly damaging Het
Sez6 A T 11: 77,974,571 Q678L probably damaging Het
Slc22a21 T C 11: 53,969,576 K141E probably damaging Het
Slc30a5 A T 13: 100,806,694 I609K probably damaging Het
Slc44a4 T C 17: 34,921,562 F244L probably damaging Het
Susd5 T C 9: 114,082,504 Y161H possibly damaging Het
Syne3 A G 12: 104,959,395 probably null Het
Tbcd G C 11: 121,496,853 probably benign Het
Tmc1 A T 19: 20,900,851 N93K probably benign Het
Tmem100 T A 11: 90,035,476 M43K probably benign Het
Tmem131l A T 3: 83,928,732 V690D probably damaging Het
Trim8 A G 19: 46,515,464 Q485R possibly damaging Het
Vmn2r63 A T 7: 42,928,495 H206Q probably benign Het
Vmn2r77 T A 7: 86,802,942 N443K possibly damaging Het
Zan T A 5: 137,389,316 I4878F unknown Het
Zfand4 A G 6: 116,314,080 D344G probably benign Het
Other mutations in Esrrg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Esrrg APN 1 188,210,910 (GRCm38) missense probably damaging 1.00
IGL01635:Esrrg APN 1 188,198,600 (GRCm38) missense probably damaging 1.00
IGL01642:Esrrg APN 1 188,210,915 (GRCm38) missense probably benign 0.01
IGL02740:Esrrg APN 1 188,198,741 (GRCm38) missense probably benign 0.04
IGL03126:Esrrg APN 1 187,997,987 (GRCm38) intron probably benign
IGL03391:Esrrg APN 1 188,150,223 (GRCm38) missense possibly damaging 0.70
R0395:Esrrg UTSW 1 188,198,635 (GRCm38) missense probably damaging 1.00
R0645:Esrrg UTSW 1 188,043,341 (GRCm38) missense probably benign 0.00
R1593:Esrrg UTSW 1 188,066,385 (GRCm38) missense possibly damaging 0.94
R1700:Esrrg UTSW 1 188,043,653 (GRCm38) missense probably damaging 1.00
R1855:Esrrg UTSW 1 188,211,098 (GRCm38) missense probably damaging 1.00
R3552:Esrrg UTSW 1 188,150,190 (GRCm38) missense probably benign 0.05
R3605:Esrrg UTSW 1 188,211,102 (GRCm38) missense possibly damaging 0.74
R4384:Esrrg UTSW 1 188,043,711 (GRCm38) missense probably damaging 1.00
R5255:Esrrg UTSW 1 188,146,358 (GRCm38) missense probably damaging 1.00
R5443:Esrrg UTSW 1 188,043,425 (GRCm38) missense possibly damaging 0.78
R5511:Esrrg UTSW 1 188,211,107 (GRCm38) missense probably damaging 1.00
R5516:Esrrg UTSW 1 188,198,730 (GRCm38) missense possibly damaging 0.56
R5543:Esrrg UTSW 1 188,150,254 (GRCm38) missense probably damaging 0.96
R5686:Esrrg UTSW 1 188,150,198 (GRCm38) missense probably benign 0.24
R5990:Esrrg UTSW 1 188,198,798 (GRCm38) missense probably damaging 1.00
R6030:Esrrg UTSW 1 188,198,707 (GRCm38) missense probably benign 0.04
R6030:Esrrg UTSW 1 188,198,707 (GRCm38) missense probably benign 0.04
R7058:Esrrg UTSW 1 188,150,306 (GRCm38) missense probably damaging 1.00
R7487:Esrrg UTSW 1 188,146,423 (GRCm38) missense probably benign 0.03
R8512:Esrrg UTSW 1 188,043,580 (GRCm38) nonsense probably null
R8735:Esrrg UTSW 1 188,201,008 (GRCm38) intron probably benign
R8986:Esrrg UTSW 1 188,210,907 (GRCm38) missense possibly damaging 0.60
R9114:Esrrg UTSW 1 188,146,409 (GRCm38) missense possibly damaging 0.75
R9114:Esrrg UTSW 1 188,146,408 (GRCm38) missense probably benign 0.01
R9483:Esrrg UTSW 1 188,198,651 (GRCm38) missense probably damaging 0.97
R9760:Esrrg UTSW 1 188,043,372 (GRCm38) missense probably benign
Z1088:Esrrg UTSW 1 188,150,218 (GRCm38) missense probably benign 0.04
Z1177:Esrrg UTSW 1 188,043,555 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-10-11