Incidental Mutation 'IGL02621:Esrrb'
ID 300845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrrb
Ensembl Gene ENSMUSG00000021255
Gene Name estrogen related receptor, beta
Synonyms ERRb, Estrrb, ERR2, Err2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02621
Quality Score
Status
Chromosome 12
Chromosomal Location 86407891-86568402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86468735 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q61539
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: 3,476,688 (GRCm39) probably benign Het
2210408I21Rik T C 13: 77,408,150 (GRCm39) I159T possibly damaging Het
Agpat3 T A 10: 78,120,900 (GRCm39) I93F probably damaging Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atr G A 9: 95,790,453 (GRCm39) A1598T probably benign Het
Bltp1 T A 3: 37,095,633 (GRCm39) probably benign Het
Clk1 T C 1: 58,453,614 (GRCm39) D324G probably damaging Het
Cntnap4 A T 8: 113,537,355 (GRCm39) D742V probably damaging Het
Grm1 A T 10: 10,564,755 (GRCm39) Y1184* probably null Het
Hint1 G T 11: 54,761,011 (GRCm39) probably benign Het
Itch A T 2: 155,014,504 (GRCm39) probably null Het
Lmod3 T C 6: 97,215,796 (GRCm39) probably benign Het
Map3k4 C A 17: 12,482,900 (GRCm39) A606S probably damaging Het
Mapk4 A T 18: 74,103,346 (GRCm39) S54R probably damaging Het
Megf11 A G 9: 64,601,214 (GRCm39) D807G probably benign Het
Mgat5 A G 1: 127,325,326 (GRCm39) T398A possibly damaging Het
Nme8 T G 13: 19,859,818 (GRCm39) K28N probably damaging Het
Pamr1 A G 2: 102,464,688 (GRCm39) N279S probably benign Het
Pcca A T 14: 122,922,391 (GRCm39) D384V probably damaging Het
Prkag1 A T 15: 98,711,909 (GRCm39) I239N probably damaging Het
Psme4 A G 11: 30,798,131 (GRCm39) T1375A probably benign Het
Ptk2 A C 15: 73,077,994 (GRCm39) L1024R probably damaging Het
Rere G A 4: 150,698,269 (GRCm39) probably benign Het
Scn2a A G 2: 65,579,223 (GRCm39) probably benign Het
Sema5a T A 15: 32,538,802 (GRCm39) probably benign Het
Shoc1 A T 4: 59,062,668 (GRCm39) W863R probably damaging Het
Slc9a1 T A 4: 133,097,879 (GRCm39) W9R probably benign Het
Slco1a5 T A 6: 142,187,741 (GRCm39) M533L probably benign Het
Ttll4 T A 1: 74,726,643 (GRCm39) S720T probably damaging Het
Vmn1r168 A T 7: 23,240,780 (GRCm39) R212S probably damaging Het
Vmn2r114 T C 17: 23,529,494 (GRCm39) I203V probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Esrrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0083:Esrrb UTSW 12 86,561,226 (GRCm39) missense probably damaging 1.00
R0194:Esrrb UTSW 12 86,517,255 (GRCm39) missense probably damaging 1.00
R0666:Esrrb UTSW 12 86,552,676 (GRCm39) missense probably benign 0.01
R0834:Esrrb UTSW 12 86,517,071 (GRCm39) missense probably benign 0.14
R0946:Esrrb UTSW 12 86,552,598 (GRCm39) missense probably damaging 1.00
R1108:Esrrb UTSW 12 86,552,604 (GRCm39) missense probably damaging 1.00
R1619:Esrrb UTSW 12 86,561,274 (GRCm39) missense possibly damaging 0.78
R1674:Esrrb UTSW 12 86,561,225 (GRCm39) missense probably damaging 1.00
R2139:Esrrb UTSW 12 86,468,740 (GRCm39) critical splice donor site probably null
R4592:Esrrb UTSW 12 86,565,604 (GRCm39) missense probably damaging 1.00
R5377:Esrrb UTSW 12 86,565,783 (GRCm39) nonsense probably null
R5807:Esrrb UTSW 12 86,561,175 (GRCm39) missense possibly damaging 0.93
R5871:Esrrb UTSW 12 86,552,661 (GRCm39) missense probably benign 0.29
R6145:Esrrb UTSW 12 86,552,673 (GRCm39) missense probably benign
R6467:Esrrb UTSW 12 86,561,114 (GRCm39) missense probably damaging 1.00
R7098:Esrrb UTSW 12 86,517,189 (GRCm39) missense probably benign 0.01
R7289:Esrrb UTSW 12 86,517,331 (GRCm39) critical splice donor site probably null
R8283:Esrrb UTSW 12 86,468,732 (GRCm39) missense probably benign
R8444:Esrrb UTSW 12 86,552,595 (GRCm39) missense probably benign 0.29
R8712:Esrrb UTSW 12 86,565,724 (GRCm39) missense probably damaging 1.00
R8791:Esrrb UTSW 12 86,517,056 (GRCm39) missense probably damaging 0.98
R8794:Esrrb UTSW 12 86,517,038 (GRCm39) missense probably damaging 1.00
R8812:Esrrb UTSW 12 86,535,324 (GRCm39) missense probably benign 0.23
R9369:Esrrb UTSW 12 86,517,102 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16