Incidental Mutation 'IGL02153:Esrra'
ID282129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrra
Ensembl Gene ENSMUSG00000024955
Gene Nameestrogen related receptor, alpha
SynonymsERRalpha, Err1, Estrra, Nr3b1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02153
Quality Score
Status
Chromosome19
Chromosomal Location6910977-6921813 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 6913822 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 190 (T190I)
Ref Sequence ENSEMBL: ENSMUSP00000025906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025904] [ENSMUST00000025906] [ENSMUST00000088257] [ENSMUST00000116551] [ENSMUST00000173091] [ENSMUST00000173635] [ENSMUST00000174786]
Predicted Effect probably benign
Transcript: ENSMUST00000025904
SMART Domains Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953

DomainStartEndE-ValueType
Pfam:Redoxin 53 206 1e-31 PFAM
Pfam:AhpC-TSA 54 189 8.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025906
AA Change: T190I

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: T190I

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
Pfam:Trm112p 2 112 1.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172869
Predicted Effect probably benign
Transcript: ENSMUST00000173091
SMART Domains Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953

DomainStartEndE-ValueType
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
AA Change: T47I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955
AA Change: T47I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Trm112p 2 101 5.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183724
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,441,241 I275T probably benign Het
BC005561 A G 5: 104,521,083 E1157G probably benign Het
Chd9 A T 8: 90,956,494 K521* probably null Het
Csn3 A T 5: 87,930,097 N154I possibly damaging Het
Dock2 A G 11: 34,230,670 S1716P probably benign Het
Dock7 A T 4: 98,958,067 S18T probably benign Het
F13b T C 1: 139,516,377 I483T probably damaging Het
Foxb1 T A 9: 69,759,703 M182L probably benign Het
Fsip2 T C 2: 82,978,721 F1795L probably benign Het
Gkn2 G A 6: 87,373,408 probably null Het
Gm8439 G A 4: 120,609,590 A93T unknown Het
Ift22 T C 5: 136,911,696 S72P probably benign Het
Kcnmb2 A G 3: 32,178,844 K24E probably damaging Het
Kcnq3 C A 15: 66,025,191 V287L probably damaging Het
Lrriq1 T A 10: 103,170,479 M1262L probably benign Het
Mb21d2 A G 16: 28,929,488 I59T probably benign Het
Mogat2 A T 7: 99,223,554 M141K possibly damaging Het
Mtdh C T 15: 34,131,250 L409F possibly damaging Het
Muc5ac C T 7: 141,818,800 Q2724* probably null Het
Myo15 T G 11: 60,498,397 L2040R probably damaging Het
Nodal C T 10: 61,424,545 T325I probably damaging Het
Pappa A T 4: 65,297,437 T1194S probably damaging Het
Pcdhb13 A C 18: 37,443,685 D372A probably damaging Het
Phf14 T A 6: 11,934,016 N292K probably damaging Het
Pigr T A 1: 130,849,056 probably null Het
Plcb1 T C 2: 135,387,853 I1131T probably benign Het
Plch1 T A 3: 63,781,351 D132V probably damaging Het
Plxnb2 C A 15: 89,165,813 E502* probably null Het
Prox2 T C 12: 85,087,929 N526S probably damaging Het
Rdm1 T A 11: 101,628,454 probably null Het
Rxfp1 C T 3: 79,660,120 E308K probably benign Het
Sgca T C 11: 94,963,284 T120A probably damaging Het
Sh3tc1 G A 5: 35,703,352 R1054W probably damaging Het
Smarcal1 C T 1: 72,633,055 probably benign Het
Spata45 T A 1: 191,039,761 M60K probably benign Het
St8sia6 T C 2: 13,656,905 M372V probably damaging Het
Tas2r126 T G 6: 42,434,664 S44A probably benign Het
Tcea3 T A 4: 136,273,634 probably benign Het
Tln1 T C 4: 43,546,857 I840V possibly damaging Het
Ttn T C 2: 76,898,341 probably benign Het
Ubr4 T A 4: 139,460,160 Y3846* probably null Het
Usp47 G A 7: 112,104,049 D1171N probably benign Het
Vmn2r114 G A 17: 23,291,808 T566I probably benign Het
Wdr35 G A 12: 9,008,535 R575Q probably null Het
Xkr5 A T 8: 18,933,667 C454S probably benign Het
Other mutations in Esrra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Esrra APN 19 6912732 missense probably damaging 1.00
IGL02396:Esrra APN 19 6912005 missense probably benign
IGL02642:Esrra APN 19 6912850 missense possibly damaging 0.85
R1463:Esrra UTSW 19 6912455 missense probably benign
R1484:Esrra UTSW 19 6912829 missense probably damaging 1.00
R1546:Esrra UTSW 19 6920297 missense probably benign 0.07
R1848:Esrra UTSW 19 6912010 missense probably benign 0.05
R2397:Esrra UTSW 19 6920176 missense probably damaging 1.00
R4853:Esrra UTSW 19 6920072 missense probably damaging 1.00
R5580:Esrra UTSW 19 6920387 start codon destroyed probably null 0.01
R5587:Esrra UTSW 19 6920207 missense probably benign
R6270:Esrra UTSW 19 6914120 splice site probably null
R6612:Esrra UTSW 19 6911852 missense probably benign 0.01
R6807:Esrra UTSW 19 6911774 missense probably benign 0.14
R7288:Esrra UTSW 19 6912771 nonsense probably null
R7599:Esrra UTSW 19 6913846 missense possibly damaging 0.91
Posted On2015-04-16