Mutagenetix > Incidental Mutation

Incidental Mutation 'R5377:Esrrb'

425637

Institutional Source

Beutler Lab

Gene Symbol

Esrrb

Ensembl Gene

ENSMUSG00000021255

Gene Name

estrogen related receptor, beta

Synonyms

ERR2, Err2, Estrrb, ERRb

MMRRC Submission

042845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86361117-86521628 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 86519009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 416 (Q416*)

Ref Sequence

ENSEMBL: ENSMUSP00000131335 (fasta)

Gene Model

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

AlphaFold

Q61539

Predicted Effect

probably null
Transcript: ENSMUST00000021680
AA Change: Q416*

SMART Domains

Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: Q416*

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 null
Transcript: ENSMUST00000110204
AA Change: Q437*

SMART Domains

Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: Q437*

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 null
Transcript: ENSMUST00000116402
AA Change: Q421*

SMART Domains

Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: Q421*

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 null
Transcript: ENSMUST00000167891
AA Change: Q416*

SMART Domains

Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: Q416*

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,645,253 (GRCm38)	V372F	probably benign	Het
Adcy10	G	A	1: 165,519,895 (GRCm38)	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,730,306 (GRCm38)	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,321,511 (GRCm38)		probably benign	Het
Akr1a1	A	T	4: 116,639,895 (GRCm38)	V156E	probably damaging	Het
Alk	T	G	17: 71,895,739 (GRCm38)	D1167A	probably damaging	Het
Ankrd11	T	C	8: 122,893,714 (GRCm38)		probably null	Het
Aspm	A	G	1: 139,470,395 (GRCm38)		probably null	Het
Aspm	T	A	1: 139,457,483 (GRCm38)	N288K	probably damaging	Het
Asxl2	G	A	12: 3,474,618 (GRCm38)		probably null	Het
Atp6v0a1	A	G	11: 101,055,587 (GRCm38)	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,171,822 (GRCm38)	T531A	possibly damaging	Het
Ccdc114	C	T	7: 45,942,082 (GRCm38)	R257*	probably null	Het
Cecr2	A	G	6: 120,756,569 (GRCm38)	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,759,865 (GRCm38)	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,675,616 (GRCm38)	I413F	probably null	Het
Defb12	C	A	8: 19,114,326 (GRCm38)		probably null	Het
Dnah2	T	C	11: 69,421,848 (GRCm38)	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,791,513 (GRCm38)	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,903,189 (GRCm38)	T207N	probably benign	Het
Exd2	T	C	12: 80,489,448 (GRCm38)	L284P	probably damaging	Het
Fat3	T	A	9: 16,376,443 (GRCm38)	I595F	probably benign	Het
Gm9920	A	G	15: 55,108,975 (GRCm38)		probably benign	Het
Hephl1	T	C	9: 15,069,788 (GRCm38)	K783E	probably damaging	Het
Irs2	A	G	8: 11,005,277 (GRCm38)	S1052P	probably benign	Het
Kctd18	T	C	1: 57,963,093 (GRCm38)	I192V	probably benign	Het
Lama3	A	G	18: 12,453,746 (GRCm38)	D722G	probably damaging	Het
Lepr	T	C	4: 101,815,019 (GRCm38)	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,563,655 (GRCm38)	G504S	probably damaging	Het
Lrit2	A	C	14: 37,069,183 (GRCm38)	Q273P	possibly damaging	Het
Mgea5	A	T	19: 45,758,022 (GRCm38)	Y779*	probably null	Het
Mlkl	T	A	8: 111,327,937 (GRCm38)	E189D	probably benign	Het
Mttp	C	T	3: 138,105,029 (GRCm38)	R608H	probably benign	Het
Nav2	T	C	7: 49,589,160 (GRCm38)	V2011A	probably benign	Het
Nos2	A	T	11: 78,957,491 (GRCm38)	I1075F	probably benign	Het
Npat	A	G	9: 53,550,036 (GRCm38)		probably null	Het
Nucks1	T	C	1: 131,919,033 (GRCm38)	F16L	probably damaging	Het
Nus1	T	C	10: 52,429,213 (GRCm38)	S150P	possibly damaging	Het
Olfr1230	G	T	2: 89,297,162 (GRCm38)	T36K	probably damaging	Het
Olfr881	A	T	9: 37,992,612 (GRCm38)	Y40F	probably benign	Het
Pclo	A	G	5: 14,681,353 (GRCm38)	T3290A	unknown	Het
Pign	A	T	1: 105,657,812 (GRCm38)	F4Y	probably benign	Het
Rfx4	A	G	10: 84,860,542 (GRCm38)	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,160,195 (GRCm38)	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Scaf11	T	A	15: 96,417,120 (GRCm38)	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,518,637 (GRCm38)	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,283,128 (GRCm38)	L426I	probably damaging	Het
Slc17a2	T	C	13: 23,812,592 (GRCm38)	S27P	probably damaging	Het
Slc22a30	G	A	19: 8,344,393 (GRCm38)	Q436*	probably null	Het
Tacc1	A	G	8: 25,182,283 (GRCm38)	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084 (GRCm38)	R110C	probably damaging	Het
Trip12	T	C	1: 84,757,431 (GRCm38)	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,842,855 (GRCm38)		probably null	Het
Ush2a	G	A	1: 188,912,123 (GRCm38)	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,187,631 (GRCm38)	V140I	probably benign	Het
Vmn2r66	A	T	7: 85,006,818 (GRCm38)	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,379,269 (GRCm38)	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,272,221 (GRCm38)	V172G	probably benign	Het
Zfhx3	C	T	8: 108,951,185 (GRCm38)	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,982,251 (GRCm38)	L283P	possibly damaging	Het
Zfp82	T	C	7: 30,057,166 (GRCm38)	K164E	probably damaging	Het

Other mutations in Esrrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02621:Esrrb	APN	12	86,421,961 (GRCm38)	missense	probably benign
R0083:Esrrb	UTSW	12	86,514,452 (GRCm38)	missense	probably damaging	1.00
R0194:Esrrb	UTSW	12	86,470,481 (GRCm38)	missense	probably damaging	1.00
R0666:Esrrb	UTSW	12	86,505,902 (GRCm38)	missense	probably benign	0.01
R0834:Esrrb	UTSW	12	86,470,297 (GRCm38)	missense	probably benign	0.14
R0946:Esrrb	UTSW	12	86,505,824 (GRCm38)	missense	probably damaging	1.00
R1108:Esrrb	UTSW	12	86,505,830 (GRCm38)	missense	probably damaging	1.00
R1619:Esrrb	UTSW	12	86,514,500 (GRCm38)	missense	possibly damaging	0.78
R1674:Esrrb	UTSW	12	86,514,451 (GRCm38)	missense	probably damaging	1.00
R2139:Esrrb	UTSW	12	86,421,966 (GRCm38)	critical splice donor site	probably null
R4592:Esrrb	UTSW	12	86,518,830 (GRCm38)	missense	probably damaging	1.00
R5807:Esrrb	UTSW	12	86,514,401 (GRCm38)	missense	possibly damaging	0.93
R5871:Esrrb	UTSW	12	86,505,887 (GRCm38)	missense	probably benign	0.29
R6145:Esrrb	UTSW	12	86,505,899 (GRCm38)	missense	probably benign
R6467:Esrrb	UTSW	12	86,514,340 (GRCm38)	missense	probably damaging	1.00
R7098:Esrrb	UTSW	12	86,470,415 (GRCm38)	missense	probably benign	0.01
R7289:Esrrb	UTSW	12	86,470,557 (GRCm38)	critical splice donor site	probably null
R8283:Esrrb	UTSW	12	86,421,958 (GRCm38)	missense	probably benign
R8444:Esrrb	UTSW	12	86,505,821 (GRCm38)	missense	probably benign	0.29
R8712:Esrrb	UTSW	12	86,518,950 (GRCm38)	missense	probably damaging	1.00
R8791:Esrrb	UTSW	12	86,470,282 (GRCm38)	missense	probably damaging	0.98
R8794:Esrrb	UTSW	12	86,470,264 (GRCm38)	missense	probably damaging	1.00
R8812:Esrrb	UTSW	12	86,488,550 (GRCm38)	missense	probably benign	0.23
R9369:Esrrb	UTSW	12	86,470,328 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTACATTGAGAACCTGGAGGC -3'
(R):5'- TTCCAAAGAAAATGCGGGTGAC -3'

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

Posted On

2016-08-04