Incidental Mutation 'R5377:Esrrb'
ID 425637
Institutional Source Beutler Lab
Gene Symbol Esrrb
Ensembl Gene ENSMUSG00000021255
Gene Name estrogen related receptor, beta
Synonyms ERR2, Err2, Estrrb, ERRb
MMRRC Submission 042845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5377 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 86361117-86521628 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 86519009 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 416 (Q416*)
Ref Sequence ENSEMBL: ENSMUSP00000131335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021680] [ENSMUST00000110203] [ENSMUST00000110204] [ENSMUST00000116402] [ENSMUST00000167891]
AlphaFold Q61539
Predicted Effect probably null
Transcript: ENSMUST00000021680
AA Change: Q416*
SMART Domains Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: Q416*

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
SMART Domains Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255

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 null
Transcript: ENSMUST00000110204
AA Change: Q437*
SMART Domains Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: Q437*

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 null
Transcript: ENSMUST00000116402
AA Change: Q421*
SMART Domains Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: Q421*

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
Predicted Effect probably null
Transcript: ENSMUST00000167891
AA Change: Q416*
SMART Domains Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: Q416*

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,645,253 (GRCm38) V372F probably benign Het
Adcy10 G A 1: 165,519,895 (GRCm38) C393Y probably damaging Het
Adgrg7 A C 16: 56,730,306 (GRCm38) I681S possibly damaging Het
Akap8l T C 17: 32,321,511 (GRCm38) probably benign Het
Akr1a1 A T 4: 116,639,895 (GRCm38) V156E probably damaging Het
Alk T G 17: 71,895,739 (GRCm38) D1167A probably damaging Het
Ankrd11 T C 8: 122,893,714 (GRCm38) probably null Het
Aspm A G 1: 139,470,395 (GRCm38) probably null Het
Aspm T A 1: 139,457,483 (GRCm38) N288K probably damaging Het
Asxl2 G A 12: 3,474,618 (GRCm38) probably null Het
Atp6v0a1 A G 11: 101,055,587 (GRCm38) H802R probably damaging Het
B4galnt1 A G 10: 127,171,822 (GRCm38) T531A possibly damaging Het
Ccdc114 C T 7: 45,942,082 (GRCm38) R257* probably null Het
Cecr2 A G 6: 120,756,569 (GRCm38) N506D possibly damaging Het
Crebrf T C 17: 26,759,865 (GRCm38) V509A probably damaging Het
Cyp4f40 A T 17: 32,675,616 (GRCm38) I413F probably null Het
Defb12 C A 8: 19,114,326 (GRCm38) probably null Het
Dnah2 T C 11: 69,421,848 (GRCm38) E4297G probably damaging Het
Dpysl5 A T 5: 30,791,513 (GRCm38) N371Y probably damaging Het
Eef1d G T 15: 75,903,189 (GRCm38) T207N probably benign Het
Exd2 T C 12: 80,489,448 (GRCm38) L284P probably damaging Het
Fat3 T A 9: 16,376,443 (GRCm38) I595F probably benign Het
Gm9920 A G 15: 55,108,975 (GRCm38) probably benign Het
Hephl1 T C 9: 15,069,788 (GRCm38) K783E probably damaging Het
Irs2 A G 8: 11,005,277 (GRCm38) S1052P probably benign Het
Kctd18 T C 1: 57,963,093 (GRCm38) I192V probably benign Het
Lama3 A G 18: 12,453,746 (GRCm38) D722G probably damaging Het
Lepr T C 4: 101,815,019 (GRCm38) V1080A possibly damaging Het
Lpin1 C T 12: 16,563,655 (GRCm38) G504S probably damaging Het
Lrit2 A C 14: 37,069,183 (GRCm38) Q273P possibly damaging Het
Mgea5 A T 19: 45,758,022 (GRCm38) Y779* probably null Het
Mlkl T A 8: 111,327,937 (GRCm38) E189D probably benign Het
Mttp C T 3: 138,105,029 (GRCm38) R608H probably benign Het
Nav2 T C 7: 49,589,160 (GRCm38) V2011A probably benign Het
Nos2 A T 11: 78,957,491 (GRCm38) I1075F probably benign Het
Npat A G 9: 53,550,036 (GRCm38) probably null Het
Nucks1 T C 1: 131,919,033 (GRCm38) F16L probably damaging Het
Nus1 T C 10: 52,429,213 (GRCm38) S150P possibly damaging Het
Olfr1230 G T 2: 89,297,162 (GRCm38) T36K probably damaging Het
Olfr881 A T 9: 37,992,612 (GRCm38) Y40F probably benign Het
Pclo A G 5: 14,681,353 (GRCm38) T3290A unknown Het
Pign A T 1: 105,657,812 (GRCm38) F4Y probably benign Het
Rfx4 A G 10: 84,860,542 (GRCm38) N233D possibly damaging Het
Rpgrip1 A T 14: 52,160,195 (GRCm38) M1325L possibly damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Scaf11 T A 15: 96,417,120 (GRCm38) H1227L possibly damaging Het
Sec31b G T 19: 44,518,637 (GRCm38) P840T probably damaging Het
Slc16a9 T A 10: 70,283,128 (GRCm38) L426I probably damaging Het
Slc17a2 T C 13: 23,812,592 (GRCm38) S27P probably damaging Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Tacc1 A G 8: 25,182,283 (GRCm38) S310P possibly damaging Het
Tmem245 G A 4: 56,947,084 (GRCm38) R110C probably damaging Het
Trip12 T C 1: 84,757,431 (GRCm38) Y953C probably damaging Het
Trpm7 C A 2: 126,842,855 (GRCm38) probably null Het
Ush2a G A 1: 188,912,123 (GRCm38) V4561I probably benign Het
Vmn1r192 C T 13: 22,187,631 (GRCm38) V140I probably benign Het
Vmn2r66 A T 7: 85,006,818 (GRCm38) I330N probably damaging Het
Vmn2r99 T C 17: 19,379,269 (GRCm38) V405A probably damaging Het
Wdhd1 A C 14: 47,272,221 (GRCm38) V172G probably benign Het
Zfhx3 C T 8: 108,951,185 (GRCm38) R2956C possibly damaging Het
Zfp446 T C 7: 12,982,251 (GRCm38) L283P possibly damaging Het
Zfp82 T C 7: 30,057,166 (GRCm38) K164E probably damaging Het
Other mutations in Esrrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02621:Esrrb APN 12 86,421,961 (GRCm38) missense probably benign
R0083:Esrrb UTSW 12 86,514,452 (GRCm38) missense probably damaging 1.00
R0194:Esrrb UTSW 12 86,470,481 (GRCm38) missense probably damaging 1.00
R0666:Esrrb UTSW 12 86,505,902 (GRCm38) missense probably benign 0.01
R0834:Esrrb UTSW 12 86,470,297 (GRCm38) missense probably benign 0.14
R0946:Esrrb UTSW 12 86,505,824 (GRCm38) missense probably damaging 1.00
R1108:Esrrb UTSW 12 86,505,830 (GRCm38) missense probably damaging 1.00
R1619:Esrrb UTSW 12 86,514,500 (GRCm38) missense possibly damaging 0.78
R1674:Esrrb UTSW 12 86,514,451 (GRCm38) missense probably damaging 1.00
R2139:Esrrb UTSW 12 86,421,966 (GRCm38) critical splice donor site probably null
R4592:Esrrb UTSW 12 86,518,830 (GRCm38) missense probably damaging 1.00
R5807:Esrrb UTSW 12 86,514,401 (GRCm38) missense possibly damaging 0.93
R5871:Esrrb UTSW 12 86,505,887 (GRCm38) missense probably benign 0.29
R6145:Esrrb UTSW 12 86,505,899 (GRCm38) missense probably benign
R6467:Esrrb UTSW 12 86,514,340 (GRCm38) missense probably damaging 1.00
R7098:Esrrb UTSW 12 86,470,415 (GRCm38) missense probably benign 0.01
R7289:Esrrb UTSW 12 86,470,557 (GRCm38) critical splice donor site probably null
R8283:Esrrb UTSW 12 86,421,958 (GRCm38) missense probably benign
R8444:Esrrb UTSW 12 86,505,821 (GRCm38) missense probably benign 0.29
R8712:Esrrb UTSW 12 86,518,950 (GRCm38) missense probably damaging 1.00
R8791:Esrrb UTSW 12 86,470,282 (GRCm38) missense probably damaging 0.98
R8794:Esrrb UTSW 12 86,470,264 (GRCm38) missense probably damaging 1.00
R8812:Esrrb UTSW 12 86,488,550 (GRCm38) missense probably benign 0.23
R9369:Esrrb UTSW 12 86,470,328 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04