Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Esrrb'

669667

Institutional Source

Beutler Lab

Gene Symbol

Esrrb

Ensembl Gene

ENSMUSG00000021255

Gene Name

estrogen related receptor, beta

Synonyms

ERRb, Estrrb, ERR2, Err2

MMRRC Submission

068566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86407891-86568402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86565724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 417 (L417Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105833 (fasta)

Gene Model

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

AlphaFold

Q61539

Predicted Effect

probably damaging
Transcript: ENSMUST00000021680
AA Change: L396Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: L396Q

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: L417Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: L417Q

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: L401Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: L401Q

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: L396Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: L396Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,594,896 (GRCm39)	N617K	probably benign	Het
Adnp2	A	T	18: 80,174,185 (GRCm39)	C75S	probably damaging	Het
Agmo	T	C	12: 37,407,673 (GRCm39)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,749,872 (GRCm39)	Y122C		Het
Ahnak2	T	C	12: 112,750,709 (GRCm39)	E71G		Het
Aldh5a1	A	G	13: 25,102,524 (GRCm39)	V313A	probably damaging	Het
Ankib1	C	A	5: 3,822,643 (GRCm39)	C21F	probably benign	Het
Aqr	A	G	2: 113,949,358 (GRCm39)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,103,547 (GRCm39)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,365,923 (GRCm39)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,125,859 (GRCm39)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,772,510 (GRCm39)	I113V	probably benign	Het
Catsper3	T	C	13: 55,953,657 (GRCm39)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,079,233 (GRCm39)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,845,051 (GRCm39)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm39)		probably null	Het
Cebpz	A	G	17: 79,229,081 (GRCm39)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,696 (GRCm39)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm39)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,310,138 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,293,859 (GRCm39)		probably benign	Het
Duox2	A	C	2: 122,119,826 (GRCm39)	Y867*	probably null	Het
Ereg	T	C	5: 91,237,013 (GRCm39)	Y111H	possibly damaging	Het
Fbxw7	G	A	3: 84,859,684 (GRCm39)	R2H	unknown	Het
Galnt6	C	T	15: 100,592,501 (GRCm39)	V569I	probably benign	Het
Gm14226	G	A	2: 154,866,094 (GRCm39)	C17Y	unknown	Het
Gpr150	T	G	13: 76,204,642 (GRCm39)	D101A	probably damaging	Het
Grm1	A	T	10: 10,565,296 (GRCm39)	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 89,022,351 (GRCm39)	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,444,064 (GRCm39)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,308,074 (GRCm39)	W641R		Het
Ifi214	T	A	1: 173,355,486 (GRCm39)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,271,025 (GRCm39)	S636T	probably benign	Het
Klhl25	C	T	7: 75,515,420 (GRCm39)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,853,124 (GRCm39)	E835G	probably benign	Het
Marchf1	A	G	8: 66,921,000 (GRCm39)	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,256,170 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,192,434 (GRCm39)	R639L	probably benign	Het
Naip5	T	C	13: 100,359,604 (GRCm39)	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,245,769 (GRCm39)	I132V	probably benign	Het
Nprl3	C	T	11: 32,187,334 (GRCm39)	V333I	possibly damaging	Het
Or13a25	C	T	7: 140,248,052 (GRCm39)	S277L	possibly damaging	Het
Or14n1-ps1	T	C	7: 86,092,923 (GRCm39)	S245P	probably damaging	Het
Or2o1	T	C	11: 49,051,297 (GRCm39)	M152T	probably benign	Het
Or2y1	T	A	11: 49,385,671 (GRCm39)	S104T	probably benign	Het
Or4b1d	A	T	2: 89,969,114 (GRCm39)	I123N	probably damaging	Het
Or4f62	A	T	2: 111,986,934 (GRCm39)	I213F	probably damaging	Het
Or52h1	T	C	7: 103,829,025 (GRCm39)	N197D	probably damaging	Het
Or56a41	C	A	7: 104,741,808 (GRCm39)	V73F	possibly damaging	Het
Or8c15	T	C	9: 38,121,099 (GRCm39)	V248A	probably benign	Het
Or8d6	T	C	9: 39,853,891 (GRCm39)	S112P	probably damaging	Het
Otx2	A	G	14: 48,896,521 (GRCm39)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 110,265,309 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,011,129 (GRCm39)	T34S	probably benign	Het
Prkcsh	T	C	9: 21,924,375 (GRCm39)	Y502H	probably damaging	Het
Psd	T	C	19: 46,301,775 (GRCm39)	E937G	probably damaging	Het
Rbbp6	T	A	7: 122,600,976 (GRCm39)	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,106,587 (GRCm39)	M446K	probably damaging	Het
Sall3	T	C	18: 81,017,236 (GRCm39)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,325,916 (GRCm39)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,225,112 (GRCm39)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,380,646 (GRCm39)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,687,526 (GRCm39)	D418G	probably benign	Het
Sox6	T	C	7: 115,196,743 (GRCm39)	T296A	probably benign	Het
Ssu2	T	C	6: 112,361,399 (GRCm39)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,600,170 (GRCm39)	N90S	probably damaging	Het
Tex24	A	G	8: 27,834,652 (GRCm39)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,070,470 (GRCm39)	*128R	probably null	Het
Tti1	A	C	2: 157,834,930 (GRCm39)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,567,682 (GRCm39)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 103,778,322 (GRCm39)	K167N	probably benign	Het
Unkl	A	G	17: 25,450,689 (GRCm39)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,013,665 (GRCm39)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,811,397 (GRCm39)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,369,877 (GRCm39)	T62K	probably benign	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
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
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'- AAATGCCTTCCGTGTTGGGG -3'
(R):5'- TTCCAAAGAAAATGCGGGTGAC -3'

Sequencing Primer
(F):5'- ACATTGAGAACCTGGAGG -3'
(R):5'- TCTGCACATGGCCAGGAAG -3'

Posted On

2021-04-30