Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Esrrb'

342918

Institutional Source

Beutler Lab

Gene Symbol

Esrrb

Ensembl Gene

ENSMUSG00000021255

Gene Name

estrogen related receptor, beta

Synonyms

ERRb, Estrrb, ERR2, Err2

MMRRC Submission

041808-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4592 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

86407891-86568402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86565604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 356 (Y356C)

Ref Sequence

ENSEMBL: ENSMUSP00000131335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021680] [ENSMUST00000110203] [ENSMUST00000110204] [ENSMUST00000116402] [ENSMUST00000167891]

AlphaFold

Q61539

Predicted Effect

probably damaging
Transcript: ENSMUST00000021680
AA Change: Y356C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: Y356C

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000110204
AA Change: Y377C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: Y377C

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000116402
AA Change: Y361C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: Y361C

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000167891
AA Change: Y356C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: Y356C

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1649

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,164 (GRCm39)	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,388,629 (GRCm39)	V521A	possibly damaging	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
Casp12	T	C	9: 5,352,923 (GRCm39)		probably benign	Het
Cenpf	G	A	1: 189,411,230 (GRCm39)	T318M	probably damaging	Het
Cfap119	C	T	7: 127,184,663 (GRCm39)	R172H	probably benign	Het
Clcn2	T	C	16: 20,527,892 (GRCm39)	K525E	probably damaging	Het
Cntln	A	G	4: 84,889,419 (GRCm39)	T301A	probably benign	Het
Crat	T	C	2: 30,305,378 (GRCm39)		probably benign	Het
Cul5	A	G	9: 53,545,027 (GRCm39)		probably benign	Het
Cxcl14	A	T	13: 56,443,708 (GRCm39)	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,470,819 (GRCm39)	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,386,690 (GRCm39)	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,063,824 (GRCm39)	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,296,963 (GRCm39)	F169S	probably damaging	Het
Ddx52	T	C	11: 83,848,306 (GRCm39)	I532T	probably damaging	Het
Dnm1	T	C	2: 32,226,023 (GRCm39)	D352G	probably damaging	Het
Eif4g2	T	C	7: 110,677,509 (GRCm39)	E174G	probably damaging	Het
Enpp6	G	T	8: 47,546,067 (GRCm39)	V386L	probably damaging	Het
Entr1	C	A	2: 26,278,909 (GRCm39)		probably benign	Het
Eps15l1	T	C	8: 73,095,238 (GRCm39)	D904G	probably damaging	Het
Flt3	A	T	5: 147,291,509 (GRCm39)	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,766,218 (GRCm39)	C716S	probably damaging	Het
Gm26996	T	A	6: 130,556,448 (GRCm39)		noncoding transcript	Het
Grik2	A	T	10: 49,298,711 (GRCm39)	F50I	possibly damaging	Het
Guf1	T	C	5: 69,723,786 (GRCm39)	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,188,684 (GRCm39)	V55A	probably benign	Het
Impg1	T	A	9: 80,322,907 (GRCm39)	I33F	probably benign	Het
Ltbp4	A	C	7: 27,024,608 (GRCm39)	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,947,772 (GRCm39)	L529H	probably damaging	Het
Negr1	T	C	3: 156,914,023 (GRCm39)		probably benign	Het
Neurog3	A	G	10: 61,969,599 (GRCm39)	T25A	probably damaging	Het
Or10v1	T	C	19: 11,874,126 (GRCm39)	V247A	probably benign	Het
Or4a69	T	A	2: 89,313,100 (GRCm39)	K126N	probably damaging	Het
Or51h1	A	C	7: 102,308,685 (GRCm39)	Y219S	probably damaging	Het
Or5k17	T	C	16: 58,746,455 (GRCm39)	T160A	probably benign	Het
Pax8	T	A	2: 24,333,201 (GRCm39)		probably benign	Het
Pcsk6	A	C	7: 65,581,480 (GRCm39)	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,404,942 (GRCm39)	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,852,996 (GRCm39)		probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rptor	A	G	11: 119,689,666 (GRCm39)	D321G	probably null	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp1	T	C	11: 52,134,446 (GRCm39)	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,105,200 (GRCm39)	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850 (GRCm38)	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,797,802 (GRCm39)	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,183,874 (GRCm39)	A472V	probably damaging	Het
Spmap1	A	G	11: 97,662,441 (GRCm39)	S144P	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Stom	C	T	2: 35,213,758 (GRCm39)	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028 (GRCm39)	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,150,361 (GRCm39)	V449I	probably benign	Het
Triobp	C	T	15: 78,851,295 (GRCm39)	A483V	probably benign	Het
Vdac1	G	A	11: 52,265,799 (GRCm39)		probably null	Het
Vmn2r75	T	G	7: 85,815,494 (GRCm39)	E123D	probably benign	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zeb1os1	T	C	18: 5,525,375 (GRCm39)		noncoding transcript	Het

Other mutations in Esrrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02621:Esrrb	APN	12	86,468,735 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CTCCTGGTGGTCTCTCTATGAG -3'
(R):5'- ACTGTAGAAGTGTTGCACGG -3'

Sequencing Primer
(F):5'- ATGAGATCTGAGCTCAGTTCTACC -3'
(R):5'- AGAAGTGTTGCACGGCTTTG -3'

Posted On

2015-09-24