Incidental Mutation 'IGL02621:Esrrb'
ID300845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrrb
Ensembl Gene ENSMUSG00000021255
Gene Nameestrogen related receptor, beta
SynonymsERR2, Err2, Estrrb, ERRb
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02621
Quality Score
Status
Chromosome12
Chromosomal Location86361117-86521628 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86421961 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 16 (N16S)
Ref Sequence ENSEMBL: ENSMUSP00000105833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021680] [ENSMUST00000110203] [ENSMUST00000110204] [ENSMUST00000116402]
Predicted Effect probably benign
Transcript: ENSMUST00000021680
SMART Domains Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255

DomainStartEndE-ValueType
low complexity region 31 46 N/A INTRINSIC
ZnF_C4 100 171 7.03e-40 SMART
Blast:HOLI 178 208 3e-9 BLAST
HOLI 245 403 6.36e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110203
AA Change: N16S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255
AA Change: N16S

DomainStartEndE-ValueType
low complexity region 52 67 N/A INTRINSIC
ZnF_C4 121 192 7.03e-40 SMART
HOLI 266 377 6.61e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110204
AA Change: N16S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: N16S

DomainStartEndE-ValueType
low complexity region 52 67 N/A INTRINSIC
ZnF_C4 121 192 7.03e-40 SMART
Blast:HOLI 199 229 3e-9 BLAST
HOLI 266 424 6.36e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116402
SMART Domains Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255

DomainStartEndE-ValueType
low complexity region 36 51 N/A INTRINSIC
ZnF_C4 105 176 7.03e-40 SMART
Blast:HOLI 183 213 3e-9 BLAST
HOLI 250 408 6.36e-38 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos around E9.5 or E10.5 as a result of failure of the chorion to develop and subsequent placental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,426,688 probably benign Het
2210408I21Rik T C 13: 77,260,031 I159T possibly damaging Het
4932438A13Rik T A 3: 37,041,484 probably benign Het
Agpat3 T A 10: 78,285,066 I93F probably damaging Het
AI481877 A T 4: 59,062,668 W863R probably damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Atr G A 9: 95,908,400 A1598T probably benign Het
Clk1 T C 1: 58,414,455 D324G probably damaging Het
Cntnap4 A T 8: 112,810,723 D742V probably damaging Het
Grm1 A T 10: 10,689,011 Y1184* probably null Het
Hint1 G T 11: 54,870,185 probably benign Het
Itch A T 2: 155,172,584 probably null Het
Lmod3 T C 6: 97,238,835 probably benign Het
Map3k4 C A 17: 12,264,013 A606S probably damaging Het
Mapk4 A T 18: 73,970,275 S54R probably damaging Het
Megf11 A G 9: 64,693,932 D807G probably benign Het
Mgat5 A G 1: 127,397,589 T398A possibly damaging Het
Nme8 T G 13: 19,675,648 K28N probably damaging Het
Pamr1 A G 2: 102,634,343 N279S probably benign Het
Pcca A T 14: 122,684,979 D384V probably damaging Het
Prkag1 A T 15: 98,814,028 I239N probably damaging Het
Psme4 A G 11: 30,848,131 T1375A probably benign Het
Ptk2 A C 15: 73,206,145 L1024R probably damaging Het
Rere G A 4: 150,613,812 probably benign Het
Scn2a A G 2: 65,748,879 probably benign Het
Sema5a T A 15: 32,538,656 probably benign Het
Slc9a1 T A 4: 133,370,568 W9R probably benign Het
Slco1a5 T A 6: 142,242,015 M533L probably benign Het
Ttll4 T A 1: 74,687,484 S720T probably damaging Het
Vmn1r168 A T 7: 23,541,355 R212S probably damaging Het
Vmn2r114 T C 17: 23,310,520 I203V probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Esrrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0083:Esrrb UTSW 12 86514452 missense probably damaging 1.00
R0194:Esrrb UTSW 12 86470481 missense probably damaging 1.00
R0666:Esrrb UTSW 12 86505902 missense probably benign 0.01
R0834:Esrrb UTSW 12 86470297 missense probably benign 0.14
R0946:Esrrb UTSW 12 86505824 missense probably damaging 1.00
R1108:Esrrb UTSW 12 86505830 missense probably damaging 1.00
R1619:Esrrb UTSW 12 86514500 missense possibly damaging 0.78
R1674:Esrrb UTSW 12 86514451 missense probably damaging 1.00
R2139:Esrrb UTSW 12 86421966 critical splice donor site probably null
R4592:Esrrb UTSW 12 86518830 missense probably damaging 1.00
R5377:Esrrb UTSW 12 86519009 nonsense probably null
R5807:Esrrb UTSW 12 86514401 missense possibly damaging 0.93
R5871:Esrrb UTSW 12 86505887 missense probably benign 0.29
R6145:Esrrb UTSW 12 86505899 missense probably benign
R6467:Esrrb UTSW 12 86514340 missense probably damaging 1.00
R7098:Esrrb UTSW 12 86470415 missense probably benign 0.01
Posted On2015-04-16