Incidental Mutation 'R1848:Esrra'
ID 207967
Institutional Source Beutler Lab
Gene Symbol Esrra
Ensembl Gene ENSMUSG00000024955
Gene Name estrogen related receptor, alpha
Synonyms ERRalpha, Err1, Estrra, Nr3b1
MMRRC Submission 039873-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1848 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6910977-6921813 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6912010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 337 (D337G)
Ref Sequence ENSEMBL: ENSMUSP00000025906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025904] [ENSMUST00000025906] [ENSMUST00000088257] [ENSMUST00000116551] [ENSMUST00000149261] [ENSMUST00000173091] [ENSMUST00000173635] [ENSMUST00000174786]
AlphaFold O08580
Predicted Effect probably benign
Transcript: ENSMUST00000025904
SMART Domains Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953

Pfam:Redoxin 53 206 1e-31 PFAM
Pfam:AhpC-TSA 54 189 8.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025906
AA Change: D337G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: D337G

internal_repeat_1 5 21 6.74e-5 PROSPERO
low complexity region 52 67 N/A INTRINSIC
ZnF_C4 76 147 2.16e-40 SMART
low complexity region 169 187 N/A INTRINSIC
internal_repeat_1 202 218 6.74e-5 PROSPERO
HOLI 229 391 9.21e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088257
SMART Domains Protein: ENSMUSP00000085591
Gene: ENSMUSG00000038812

Pfam:Trm112p 2 112 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116551
SMART Domains Protein: ENSMUSP00000112250
Gene: ENSMUSG00000038812

Pfam:Trm112p 2 112 1.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145300
Predicted Effect probably benign
Transcript: ENSMUST00000149261
SMART Domains Protein: ENSMUSP00000135084
Gene: ENSMUSG00000024953

Pfam:Redoxin 56 210 1.1e-31 PFAM
Pfam:AhpC-TSA 57 192 6.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172869
Predicted Effect probably benign
Transcript: ENSMUST00000173091
SMART Domains Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953

Pfam:Redoxin 53 99 3.3e-11 PFAM
Pfam:AhpC-TSA 54 100 9.3e-8 PFAM
Pfam:Redoxin 97 163 1.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173308
Predicted Effect probably benign
Transcript: ENSMUST00000173635
SMART Domains Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955

PDB:1LO1|A 1 21 6e-7 PDB
low complexity region 26 44 N/A INTRINSIC
Pfam:Hormone_recep 65 158 4.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174786
SMART Domains Protein: ENSMUSP00000134000
Gene: ENSMUSG00000038812

Pfam:Trm112p 2 101 5.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183724
Meta Mutation Damage Score 0.7972 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency 98% (120/123)
MGI Phenotype PHENOTYPE: Homozygous mice for one mutation were viable but showed reduced weight gain associated with decreased peripheral fat deposition. Mutant mice were resistant to high-fat diet induced obesity. Another targeted mutation resulted in no significant abnormalities in homozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C A 8: 87,568,493 (GRCm38) Y86* probably null Het
Aadac A G 3: 60,039,697 (GRCm38) E272G probably damaging Het
Abcc8 A T 7: 46,166,902 (GRCm38) D271E probably benign Het
Acan T C 7: 79,099,035 (GRCm38) F1185L probably benign Het
Adam1a A T 5: 121,519,620 (GRCm38) C537S probably damaging Het
Ago2 A G 15: 73,123,965 (GRCm38) V395A probably benign Het
Alox15 A G 11: 70,350,752 (GRCm38) V101A probably damaging Het
Ankra2 T C 13: 98,271,124 (GRCm38) I194T probably damaging Het
Apobec4 C A 1: 152,756,230 (GRCm38) P3H probably damaging Het
Arid3b G T 9: 57,796,677 (GRCm38) Y329* probably null Het
Atm A T 9: 53,468,012 (GRCm38) S1993T probably benign Het
Bpgm T G 6: 34,487,734 (GRCm38) S129A probably benign Het
Brat1 A G 5: 140,718,509 (GRCm38) D839G possibly damaging Het
Ccdc15 A T 9: 37,342,570 (GRCm38) S128T probably benign Het
Cd300lg A T 11: 102,046,206 (GRCm38) probably benign Het
Cdc34b C A 11: 94,742,477 (GRCm38) Q168K probably damaging Het
Celsr2 A T 3: 108,401,310 (GRCm38) V1767E probably benign Het
Cep350 T C 1: 155,953,651 (GRCm38) D169G probably benign Het
Col7a1 A T 9: 108,969,565 (GRCm38) D1762V possibly damaging Het
Coro7 A G 16: 4,630,434 (GRCm38) L724P probably damaging Het
Crb1 T A 1: 139,237,012 (GRCm38) I1125F probably damaging Het
Ctif T A 18: 75,519,941 (GRCm38) D415V probably damaging Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dhrs2 A G 14: 55,240,841 (GRCm38) D237G probably benign Het
Dhx9 T C 1: 153,465,753 (GRCm38) Q582R probably damaging Het
Dnajc1 C T 2: 18,219,713 (GRCm38) R443Q probably damaging Het
Dnm2 C T 9: 21,505,681 (GRCm38) R837W possibly damaging Het
Dpf2 C A 19: 5,906,615 (GRCm38) Q70H probably damaging Het
Dqx1 T A 6: 83,066,107 (GRCm38) D608E probably damaging Het
Dync2h1 T A 9: 7,049,166 (GRCm38) T3245S probably benign Het
Ect2l A G 10: 18,200,033 (GRCm38) L35P probably damaging Het
Efcab5 A T 11: 77,103,306 (GRCm38) L1285Q probably damaging Het
Eif4g1 G C 16: 20,681,867 (GRCm38) R697P probably damaging Het
Emsy T A 7: 98,600,821 (GRCm38) E753V probably damaging Het
Entpd3 A G 9: 120,558,419 (GRCm38) I227M probably damaging Het
Epn1 T A 7: 5,089,998 (GRCm38) V103E probably damaging Het
Fam83e A T 7: 45,728,769 (GRCm38) K406* probably null Het
Fam83e A T 7: 45,728,770 (GRCm38) K406M possibly damaging Het
Fat2 A G 11: 55,311,558 (GRCm38) I230T probably damaging Het
Fbxl16 A G 17: 25,816,446 (GRCm38) I6V probably benign Het
Fgf23 T C 6: 127,073,193 (GRCm38) I55T probably damaging Het
Fibcd1 T A 2: 31,821,549 (GRCm38) D288V probably damaging Het
Flnb T C 14: 7,892,113 (GRCm38) I594T probably damaging Het
Gabbr2 T C 4: 46,739,823 (GRCm38) E449G probably benign Het
Gbf1 T G 19: 46,272,037 (GRCm38) S1130A possibly damaging Het
Gipc3 T C 10: 81,341,265 (GRCm38) E157G probably damaging Het
Glra3 G T 8: 55,940,907 (GRCm38) A18S probably benign Het
Gm6625 A C 8: 89,146,834 (GRCm38) noncoding transcript Het
Gpx4 A G 10: 80,056,036 (GRCm38) probably benign Het
Grb10 A G 11: 11,946,029 (GRCm38) F264L possibly damaging Het
Grik3 T C 4: 125,694,138 (GRCm38) Y684H probably damaging Het
Gstp1 C T 19: 4,036,795 (GRCm38) probably benign Het
Haus8 G A 8: 71,256,123 (GRCm38) probably benign Het
Hip1 G A 5: 135,435,141 (GRCm38) probably null Het
Hist3h2ba A T 11: 58,949,102 (GRCm38) I55F possibly damaging Het
Hspbap1 T A 16: 35,818,764 (GRCm38) probably null Het
Htr2b T A 1: 86,099,429 (GRCm38) I452F possibly damaging Het
Hydin T A 8: 110,569,808 (GRCm38) H3656Q probably benign Het
Klb T A 5: 65,348,837 (GRCm38) D142E probably benign Het
Lamb3 A T 1: 193,334,616 (GRCm38) T777S possibly damaging Het
Lins1 C A 7: 66,714,322 (GRCm38) T650K probably damaging Het
Loxhd1 A G 18: 77,281,971 (GRCm38) K5R possibly damaging Het
Lpp G A 16: 24,761,655 (GRCm38) M40I probably damaging Het
Mia2 A T 12: 59,170,251 (GRCm38) probably benign Het
Miip A C 4: 147,863,092 (GRCm38) F204V probably damaging Het
Mmp21 T C 7: 133,677,153 (GRCm38) R323G probably benign Het
Mta3 T A 17: 83,755,551 (GRCm38) probably benign Het
Myh1 A G 11: 67,213,630 (GRCm38) K1004R probably benign Het
Myh14 T A 7: 44,632,429 (GRCm38) I810F probably damaging Het
Nbas A C 12: 13,413,597 (GRCm38) D1295A probably damaging Het
Niban3 T C 8: 71,603,769 (GRCm38) M371T possibly damaging Het
Npr2 T G 4: 43,632,384 (GRCm38) V67G probably benign Het
Oas1f C A 5: 120,855,429 (GRCm38) Q235K probably damaging Het
Or12d17 T A 17: 37,467,047 (GRCm38) S280R probably damaging Het
Or13a27 T A 7: 140,345,987 (GRCm38) M1L probably benign Het
Or1p1 G T 11: 74,289,213 (GRCm38) C189F probably damaging Het
Or52ae9 T C 7: 103,741,174 (GRCm38) N22S probably benign Het
Or7e166 C T 9: 19,713,090 (GRCm38) H88Y probably benign Het
Pafah2 GCCCC GCCCCC 4: 134,425,541 (GRCm38) probably null Het
Pde1b A G 15: 103,525,340 (GRCm38) probably null Het
Pdilt T C 7: 119,489,384 (GRCm38) T465A probably benign Het
Plxnd1 T C 6: 115,966,546 (GRCm38) H1233R probably damaging Het
Ppm1b T A 17: 84,994,124 (GRCm38) M144K probably benign Het
Prkdc T C 16: 15,808,058 (GRCm38) L3316S probably benign Het
Prm2 T A 16: 10,791,591 (GRCm38) probably benign Het
Prmt7 T C 8: 106,237,008 (GRCm38) V240A probably benign Het
Prx C A 7: 27,518,888 (GRCm38) A938E possibly damaging Het
Rbm7 A G 9: 48,490,894 (GRCm38) V131A probably benign Het
Ric1 T A 19: 29,600,813 (GRCm38) probably null Het
Rnf150 A T 8: 82,864,010 (GRCm38) M1L possibly damaging Het
Rnf20 C T 4: 49,644,628 (GRCm38) R298W probably damaging Het
Rp1 T A 1: 4,347,232 (GRCm38) Y1219F possibly damaging Het
Scn7a A G 2: 66,684,013 (GRCm38) probably null Het
Sdad1 A G 5: 92,292,651 (GRCm38) probably null Het
Septin9 T C 11: 117,353,083 (GRCm38) probably benign Het
Serinc3 T C 2: 163,645,489 (GRCm38) probably benign Het
Shc3 C T 13: 51,461,388 (GRCm38) G178R probably damaging Het
Slc4a10 A T 2: 62,316,606 (GRCm38) K1090M probably damaging Het
Slco1a1 T C 6: 141,923,111 (GRCm38) I376V probably benign Het
Slmap A T 14: 26,422,574 (GRCm38) F719L probably benign Het
Smgc A G 15: 91,859,758 (GRCm38) N573D possibly damaging Het
Spx G A 6: 142,414,079 (GRCm38) probably null Het
Srrt C G 5: 137,296,945 (GRCm38) E308Q probably damaging Het
Tas2r130 T A 6: 131,630,597 (GRCm38) R78S probably benign Het
Tchhl1 A G 3: 93,471,101 (GRCm38) R371G probably damaging Het
Teddm2 C T 1: 153,850,448 (GRCm38) A174T probably benign Het
Tktl2 G A 8: 66,512,347 (GRCm38) V186M probably damaging Het
Trim33 T C 3: 103,324,640 (GRCm38) probably benign Het
Tspan31 A G 10: 127,069,458 (GRCm38) V40A probably damaging Het
Uevld A G 7: 46,945,227 (GRCm38) probably benign Het
Vcl G T 14: 21,008,995 (GRCm38) A560S probably benign Het
Vmn2r24 T A 6: 123,816,224 (GRCm38) C837S probably damaging Het
Vmn2r57 C T 7: 41,428,107 (GRCm38) V212M probably damaging Het
Vps13c A G 9: 67,936,340 (GRCm38) T1968A probably benign Het
Vtn A G 11: 78,500,567 (GRCm38) R269G probably damaging Het
Wdcp G A 12: 4,850,245 (GRCm38) V34I possibly damaging Het
Zc3h14 A G 12: 98,752,832 (GRCm38) D152G possibly damaging Het
Zfp189 C T 4: 49,529,266 (GRCm38) P123L probably benign Het
Zfp318 T C 17: 46,406,055 (GRCm38) S1038P possibly damaging Het
Zfp873 A G 10: 82,060,572 (GRCm38) D416G probably benign Het
Other mutations in Esrra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Esrra APN 19 6,912,732 (GRCm38) missense probably damaging 1.00
IGL02153:Esrra APN 19 6,913,822 (GRCm38) missense probably benign 0.38
IGL02396:Esrra APN 19 6,912,005 (GRCm38) missense probably benign
IGL02642:Esrra APN 19 6,912,850 (GRCm38) missense possibly damaging 0.85
R1463:Esrra UTSW 19 6,912,455 (GRCm38) missense probably benign
R1484:Esrra UTSW 19 6,912,829 (GRCm38) missense probably damaging 1.00
R1546:Esrra UTSW 19 6,920,297 (GRCm38) missense probably benign 0.07
R2397:Esrra UTSW 19 6,920,176 (GRCm38) missense probably damaging 1.00
R4853:Esrra UTSW 19 6,920,072 (GRCm38) missense probably damaging 1.00
R5580:Esrra UTSW 19 6,920,387 (GRCm38) start codon destroyed probably null 0.01
R5587:Esrra UTSW 19 6,920,207 (GRCm38) missense probably benign
R6270:Esrra UTSW 19 6,914,120 (GRCm38) splice site probably null
R6612:Esrra UTSW 19 6,911,852 (GRCm38) missense probably benign 0.01
R6807:Esrra UTSW 19 6,911,774 (GRCm38) missense probably benign 0.14
R7288:Esrra UTSW 19 6,912,771 (GRCm38) nonsense probably null
R7599:Esrra UTSW 19 6,913,846 (GRCm38) missense possibly damaging 0.91
R9242:Esrra UTSW 19 6,912,495 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-23