Mutagenetix > Incidental Mutation

Incidental Mutation 'R0083:Esrrb'

19772

Institutional Source

Beutler Lab

Gene Symbol

Esrrb

Ensembl Gene

ENSMUSG00000021255

Gene Name

estrogen related receptor, beta

Synonyms

ERRb, Estrrb, ERR2, Err2

MMRRC Submission

038370-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0083 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

86407891-86568402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86561226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 320 (L320P)

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: L320P

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

SMART Domains

Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: L320P

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 damaging
Transcript: ENSMUST00000110203
AA Change: L341P

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

SMART Domains

Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255
AA Change: L341P

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: L341P

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

SMART Domains

Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: L341P

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: L325P

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

SMART Domains

Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: L325P

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

noncoding transcript
Transcript: ENSMUST00000136464

Predicted Effect

probably damaging
Transcript: ENSMUST00000167891
AA Change: L320P

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

SMART Domains

Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: L320P

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

0.9560

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.0%
20x: 83.1%

Validation Efficiency

88% (117/133)

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
4930562C15Rik	A	T	16: 4,667,406 (GRCm39)	I266F	unknown	Het
Adam39	T	G	8: 41,278,115 (GRCm39)	F169V	probably damaging	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Ankrd26	G	T	6: 118,500,215 (GRCm39)	H1085Q	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Atp6v0d2	G	A	4: 19,880,001 (GRCm39)		probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C1qtnf3	G	A	15: 10,975,718 (GRCm39)	V175I	possibly damaging	Het
Cacna1c	A	G	6: 118,602,484 (GRCm39)	M1293T	probably damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Cntn4	A	G	6: 106,502,330 (GRCm39)	I362M	possibly damaging	Het
Col22a1	A	T	15: 71,762,346 (GRCm39)	D104E	possibly damaging	Het
Col4a4	T	C	1: 82,484,832 (GRCm39)		probably null	Het
Cul7	C	A	17: 46,966,482 (GRCm39)	R304S	probably benign	Het
Elfn2	A	T	15: 78,557,614 (GRCm39)	L311Q	probably damaging	Het
Fads2b	A	T	2: 85,324,476 (GRCm39)	F283L	possibly damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Fkbp4	G	A	6: 128,409,370 (GRCm39)		probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Greb1	T	C	12: 16,746,452 (GRCm39)	M1273V	probably benign	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Ints13	A	G	6: 146,452,162 (GRCm39)	Y686H	probably benign	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Krt81	A	G	15: 101,361,346 (GRCm39)	I78T	probably damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mctp2	G	T	7: 71,878,264 (GRCm39)	F271L	possibly damaging	Het
Mrto4	C	T	4: 139,075,279 (GRCm39)	V175I	possibly damaging	Het
Myh14	A	G	7: 44,283,943 (GRCm39)	V654A	probably damaging	Het
Neu2	A	G	1: 87,524,984 (GRCm39)	Y323C	probably damaging	Het
Nt5dc1	A	C	10: 34,279,760 (GRCm39)	M94R	probably damaging	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Obscn	T	C	11: 58,913,200 (GRCm39)	D6939G	probably damaging	Het
Or10q1b	A	T	19: 13,683,042 (GRCm39)	T284S	probably damaging	Het
Pias4	A	G	10: 81,000,000 (GRCm39)	S18P	probably damaging	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Plk5	G	A	10: 80,192,496 (GRCm39)	G34S	possibly damaging	Het
Ptprj	A	T	2: 90,300,121 (GRCm39)		probably null	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Sap130	C	A	18: 31,799,382 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,844,694 (GRCm39)	P902S	probably damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc15a2	T	C	16: 36,602,645 (GRCm39)	Y72C	probably damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Sppl2c	G	A	11: 104,077,358 (GRCm39)	V53I	probably benign	Het
Sstr1	T	A	12: 58,260,528 (GRCm39)	C384S	possibly damaging	Het
Sulf1	A	G	1: 12,887,641 (GRCm39)	M272V	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,550 (GRCm39)		probably benign	Het
Topaz1	A	T	9: 122,604,674 (GRCm39)	I1093L	probably benign	Het
Ttll4	G	T	1: 74,718,928 (GRCm39)	V260L	probably benign	Het
Vmn2r26	A	T	6: 124,030,940 (GRCm39)		probably null	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp939	A	T	7: 39,123,534 (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
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

Predicted Primers

PCR Primer
(F):5'- AGTCTGACACTTGGGGACCAGATG -3'
(R):5'- CCGTGTTCCGCTGATAAAAGCAATG -3'

Sequencing Primer
(F):5'- ACCAGATGAGCCTGCTGC -3'
(R):5'- AAAGCAATGCTGGTCATTCC -3'

Posted On

2013-04-11