Mutagenetix > Incidental Mutation

Incidental Mutation 'R1619:Esrrb'

174557

Institutional Source

Beutler Lab

Gene Symbol

Esrrb

Ensembl Gene

ENSMUSG00000021255

Gene Name

estrogen related receptor, beta

Synonyms

ERRb, Estrrb, ERR2, Err2

MMRRC Submission

039656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86407891-86568402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86561274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 336 (V336A)

Ref Sequence

ENSEMBL: ENSMUSP00000131335 (fasta)

Gene Model

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

AlphaFold

Q61539

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021680
AA Change: V336A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: V336A

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

possibly damaging
Transcript: ENSMUST00000110203
AA Change: V357A

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255
AA Change: V357A

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

possibly damaging
Transcript: ENSMUST00000110204
AA Change: V357A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: V357A

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

possibly damaging
Transcript: ENSMUST00000116402
AA Change: V341A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: V341A

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

possibly damaging
Transcript: ENSMUST00000167891
AA Change: V336A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: V336A

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,844,889 (GRCm39)	H1537L	probably damaging	Het
Actg2	T	A	6: 83,500,169 (GRCm39)	N116I	probably damaging	Het
Actn1	G	A	12: 80,219,796 (GRCm39)	H692Y	probably damaging	Het
Adamts6	C	T	13: 104,449,285 (GRCm39)	P36S	probably benign	Het
Agr3	G	A	12: 35,997,858 (GRCm39)		probably null	Het
Ank3	T	C	10: 69,715,805 (GRCm39)	V500A	probably damaging	Het
BC051019	T	A	7: 109,317,269 (GRCm39)	D141V	probably damaging	Het
Bco1	T	C	8: 117,835,454 (GRCm39)	F135S	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccdc42	A	G	11: 68,485,115 (GRCm39)	K210E	probably damaging	Het
Cckar	A	T	5: 53,857,409 (GRCm39)	W263R	probably damaging	Het
Cela2a	A	G	4: 141,553,252 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,748,159 (GRCm39)	N90K	probably damaging	Het
Ces2g	A	T	8: 105,693,984 (GRCm39)	Q440L	probably damaging	Het
Chchd6	G	T	6: 89,396,736 (GRCm39)	T225K	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chrna5	A	G	9: 54,911,649 (GRCm39)	T46A	probably benign	Het
Col16a1	G	A	4: 129,992,733 (GRCm39)	G1531S	probably damaging	Het
Col19a1	A	T	1: 24,573,172 (GRCm39)	V200E	unknown	Het
Csf2rb	A	G	15: 78,219,411 (GRCm39)	D2G	probably damaging	Het
Csmd3	G	A	15: 47,813,346 (GRCm39)	S1062L	probably damaging	Het
Cul5	G	T	9: 53,569,893 (GRCm39)	Q113K	probably benign	Het
Dmwd	TAGCCTGGGAA	TAGCCTGGGAAGCCTGGGAA	7: 18,814,959 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,029,230 (GRCm39)	D620G	probably damaging	Het
Dsg1c	A	G	18: 20,397,899 (GRCm39)	N33S	probably benign	Het
Epc2	G	A	2: 49,439,990 (GRCm39)	V803I	probably damaging	Het
Erap1	T	A	13: 74,819,500 (GRCm39)	H171Q	probably damaging	Het
Fech	A	T	18: 64,595,189 (GRCm39)	W300R	probably damaging	Het
Fgd4	T	C	16: 16,241,920 (GRCm39)	I635V	possibly damaging	Het
Galc	A	T	12: 98,200,563 (GRCm39)	N282K	probably benign	Het
Gpat2	A	G	2: 127,270,637 (GRCm39)	Y95C	probably benign	Het
Grm2	T	A	9: 106,524,670 (GRCm39)	I682F	probably damaging	Het
Hdac10	G	T	15: 89,010,878 (GRCm39)	A241D	probably damaging	Het
Helz	T	A	11: 107,527,105 (GRCm39)	C182*	probably null	Het
Ift140	A	G	17: 25,307,839 (GRCm39)	Y978C	probably damaging	Het
Intu	T	A	3: 40,652,061 (GRCm39)	C839*	probably null	Het
Jmjd1c	T	C	10: 67,055,654 (GRCm39)	V358A	probably benign	Het
Kif26b	A	G	1: 178,744,043 (GRCm39)	S1380G	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Lrrc2	T	A	9: 110,790,041 (GRCm39)	S99R	probably benign	Het
Mrpl48	G	A	7: 100,195,482 (GRCm39)		probably benign	Het
Mup9	A	G	4: 60,377,878 (GRCm39)		probably benign	Het
Nap1l1	G	A	10: 111,329,240 (GRCm39)	V285I	possibly damaging	Het
Nepro	A	G	16: 44,547,391 (GRCm39)	D36G	probably benign	Het
Nkain4	A	G	2: 180,577,794 (GRCm39)	F187L	probably damaging	Het
Nobox	A	T	6: 43,284,401 (GRCm39)	C82S	possibly damaging	Het
Ntn4	C	A	10: 93,480,596 (GRCm39)	Q70K	probably damaging	Het
Or13j1	A	G	4: 43,706,292 (GRCm39)	I92T	probably damaging	Het
Or1e26	A	T	11: 73,480,118 (GRCm39)	W149R	probably damaging	Het
Or4k37	A	G	2: 111,159,306 (GRCm39)	I181V	probably benign	Het
Or51a43	T	C	7: 103,717,738 (GRCm39)	R167G	probably damaging	Het
Or5b122	T	A	19: 13,562,978 (GRCm39)	F103L	probably benign	Het
Or9r3	A	G	10: 129,948,548 (GRCm39)	I37T	possibly damaging	Het
Pappa	A	G	4: 65,094,466 (GRCm39)	E497G	probably damaging	Het
Pard3	C	A	8: 128,106,983 (GRCm39)	T569K	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdh10	A	G	3: 45,334,747 (GRCm39)	N354D	possibly damaging	Het
Pdgfc	T	C	3: 81,082,194 (GRCm39)	V129A	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Phf20l1	A	T	15: 66,487,108 (GRCm39)	H407L	possibly damaging	Het
Phip	A	T	9: 82,753,502 (GRCm39)	D1747E	probably benign	Het
Pkd1l1	A	G	11: 8,900,413 (GRCm39)	S43P	probably damaging	Het
Plekhg2	T	C	7: 28,067,846 (GRCm39)	E202G	probably damaging	Het
Rapsn	A	G	2: 90,873,504 (GRCm39)	D270G	possibly damaging	Het
Rims2	A	C	15: 39,370,382 (GRCm39)	S939R	probably damaging	Het
Ripor3	T	C	2: 167,822,765 (GRCm39)	D932G	probably damaging	Het
Rtp2	A	T	16: 23,749,421 (GRCm39)	W30R	probably damaging	Het
Scgb2b27	A	T	7: 33,711,557 (GRCm39)	D97E	probably benign	Het
Slc25a46	T	C	18: 31,716,542 (GRCm39)	N320S	probably benign	Het
Slc9b1	A	G	3: 135,060,765 (GRCm39)		probably null	Het
Socs4	T	A	14: 47,527,740 (GRCm39)	M225K	possibly damaging	Het
Spata31d1a	A	T	13: 59,850,247 (GRCm39)	L627*	probably null	Het
Srcin1	A	G	11: 97,416,307 (GRCm39)	L975P	probably damaging	Het
Stard3	T	A	11: 98,267,435 (GRCm39)		probably null	Het
Susd2	G	T	10: 75,473,878 (GRCm39)	S572R	possibly damaging	Het
Tll1	C	A	8: 64,509,307 (GRCm39)	A568S	probably benign	Het
Tmem132a	C	G	19: 10,839,062 (GRCm39)	G460A	probably damaging	Het
Trim62	A	G	4: 128,803,281 (GRCm39)	K444E	probably damaging	Het
Trpm3	A	G	19: 22,689,271 (GRCm39)	T67A	probably damaging	Het
Ttc6	T	C	12: 57,784,454 (GRCm39)	M1841T	possibly damaging	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Vmn2r38	C	A	7: 9,078,532 (GRCm39)	V617L	probably damaging	Het
Xkr6	G	A	14: 64,056,766 (GRCm39)	V226M	probably benign	Het
Zfp940	G	A	7: 29,544,962 (GRCm39)	A315V	possibly damaging	Het
Zfr	C	A	15: 12,150,473 (GRCm39)	T480K	possibly damaging	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
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

2014-04-24