Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Esrrb'

60725

Institutional Source

Beutler Lab

Gene Symbol

Esrrb

Ensembl Gene

ENSMUSG00000021255

Gene Name

estrogen related receptor, beta

Synonyms

ERRb, Estrrb, ERR2, Err2

MMRRC Submission

038453-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0194 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

86407891-86568402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86517255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 108 (D108V)

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: D108V

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

SMART Domains

Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: D108V

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: D129V

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

SMART Domains

Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255
AA Change: D129V

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: D129V

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

SMART Domains

Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: D129V

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: D113V

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

SMART Domains

Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: D113V

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: D108V

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

SMART Domains

Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: D108V

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

0.9032

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,480 (GRCm39)	D46V	unknown	Het
Abcb9	A	G	5: 124,215,358 (GRCm39)	V461A	probably damaging	Het
Ackr4	T	A	9: 103,976,679 (GRCm39)	L89F	probably benign	Het
Acsf2	T	C	11: 94,452,196 (GRCm39)	T449A	probably benign	Het
Acsl4	C	G	X: 141,116,714 (GRCm39)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,144,220 (GRCm39)	C934Y	probably null	Het
Adsl	A	G	15: 80,845,561 (GRCm39)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,016,465 (GRCm39)	D203A	probably damaging	Het
Asb10	C	A	5: 24,742,930 (GRCm39)	A268S	probably benign	Het
Atp9a	T	C	2: 168,485,805 (GRCm39)	S832G	probably benign	Het
Bckdha	A	T	7: 25,330,875 (GRCm39)	I297N	probably damaging	Het
Blm	G	A	7: 80,114,694 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm39)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,599,898 (GRCm39)		probably benign	Het
Camsap2	G	A	1: 136,220,686 (GRCm39)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,401,774 (GRCm39)	K145*	probably null	Het
Cfap45	C	T	1: 172,368,894 (GRCm39)	T434M	probably benign	Het
Cfap54	A	T	10: 92,870,524 (GRCm39)		probably benign	Het
Clcn6	G	A	4: 148,097,213 (GRCm39)	P618L	probably damaging	Het
Copg1	T	C	6: 87,881,179 (GRCm39)		probably benign	Het
Dctd	T	A	8: 48,565,113 (GRCm39)	N79K	probably benign	Het
Dgkq	A	G	5: 108,802,510 (GRCm39)		probably benign	Het
Dntt	A	T	19: 41,027,409 (GRCm39)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,053,656 (GRCm39)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,673,199 (GRCm39)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,157,795 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,036,859 (GRCm39)	D107E	probably benign	Het
Exo1	A	G	1: 175,719,596 (GRCm39)	K214E	probably damaging	Het
Fam186a	G	A	15: 99,839,644 (GRCm39)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,524,870 (GRCm39)	W194*	probably null	Het
Foxn4	A	G	5: 114,397,809 (GRCm39)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm39)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,318,928 (GRCm39)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,756,303 (GRCm39)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 37,124,934 (GRCm39)	V284F	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,308,911 (GRCm39)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,823,736 (GRCm39)	T135A	probably damaging	Het
Hpse	T	C	5: 100,867,378 (GRCm39)	D28G	probably benign	Het
Itm2b	G	T	14: 73,602,058 (GRCm39)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,291,627 (GRCm39)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,601,578 (GRCm39)	Q151R	probably null	Het
Limch1	C	A	5: 67,156,616 (GRCm39)	A517E	probably benign	Het
Lrit1	T	A	14: 36,783,677 (GRCm39)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,390,616 (GRCm39)	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 120,262,108 (GRCm39)	N347I	probably damaging	Het
Mier1	A	T	4: 102,996,716 (GRCm39)		probably null	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Mug1	A	T	6: 121,817,066 (GRCm39)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,281,484 (GRCm39)	K67E	probably benign	Het
Myh4	A	G	11: 67,143,162 (GRCm39)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,598,189 (GRCm39)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,384,303 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,718 (GRCm39)		probably null	Het
Nedd4	T	G	9: 72,577,335 (GRCm39)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,270,151 (GRCm39)	A24S	probably benign	Het
Nudt19	G	T	7: 35,250,939 (GRCm39)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,508,684 (GRCm39)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,035,582 (GRCm39)	C95*	probably null	Het
Or2ag17	C	A	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or52i2	A	G	7: 102,319,406 (GRCm39)	D93G	probably benign	Het
Or6k4	A	T	1: 173,964,327 (GRCm39)	T6S	probably benign	Het
P3h1	T	A	4: 119,095,149 (GRCm39)	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,592,671 (GRCm39)		probably benign	Het
Pex2	A	C	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,590,180 (GRCm39)	L214R	probably damaging	Het
Plcg2	G	A	8: 118,300,136 (GRCm39)		probably benign	Het
Ppargc1b	A	C	18: 61,441,016 (GRCm39)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,169,671 (GRCm39)	I177N	probably damaging	Het
Puf60	T	C	15: 75,942,334 (GRCm39)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,356,824 (GRCm39)		probably null	Het
Sdr42e1	A	T	8: 118,389,848 (GRCm39)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,777,814 (GRCm39)		probably null	Het
Sgta	G	T	10: 80,886,893 (GRCm39)	P79T	probably benign	Het
Shisa9	C	T	16: 11,802,818 (GRCm39)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,063,283 (GRCm39)	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,136,059 (GRCm39)	V494I	probably benign	Het
Slc13a5	T	A	11: 72,152,956 (GRCm39)	I42L	possibly damaging	Het
Spire2	G	A	8: 124,089,750 (GRCm39)		probably benign	Het
Sptbn4	G	A	7: 27,104,336 (GRCm39)	R962C	probably benign	Het
St8sia5	G	A	18: 77,342,420 (GRCm39)	V377I	probably benign	Het
Stag2	T	G	X: 41,295,014 (GRCm39)		probably benign	Het
Syne1	C	A	10: 5,374,311 (GRCm39)	M165I	probably benign	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,672,392 (GRCm39)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,162,901 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 54,017,498 (GRCm39)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,155,335 (GRCm39)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,771,252 (GRCm39)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,951,382 (GRCm39)	I186N	probably benign	Het
Trim55	A	G	3: 19,716,025 (GRCm39)	D195G	probably benign	Het
Trpm3	G	T	19: 22,692,720 (GRCm39)		probably null	Het
Ttc39a	T	A	4: 109,301,376 (GRCm39)	S571T	probably benign	Het
Vwf	T	G	6: 125,620,260 (GRCm39)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,198,483 (GRCm39)	F340S	possibly damaging	Het
Yeats2	T	C	16: 19,971,719 (GRCm39)	M1T	probably null	Het
Zfp236	T	A	18: 82,675,112 (GRCm39)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,428,876 (GRCm39)		probably benign	Het
Zfp975	T	A	7: 42,311,916 (GRCm39)	K232N	probably benign	Het
Zxdc	T	C	6: 90,349,519 (GRCm39)		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
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'- TTCATCAAGACGGAGCCATCCAGC -3'
(R):5'- TTCTACGGCGTTTCAGGGACCAAG -3'

Sequencing Primer
(F):5'- TTGGCATTGCCCTGAGC -3'
(R):5'- GAGTCTTAGAGTTGAAATCCTTGTC -3'

Posted On

2013-07-24