Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Esrra'

587943

Institutional Source

Beutler Lab

Gene Symbol

Esrra

Ensembl Gene

ENSMUSG00000024955

Gene Name

estrogen related receptor, alpha

Synonyms

ERRalpha, Err1, Estrra, Nr3b1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6910977-6921813 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6913846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 182 (A182E)

Ref Sequence

ENSEMBL: ENSMUSP00000025906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025904] [ENSMUST00000025906] [ENSMUST00000088257] [ENSMUST00000116551] [ENSMUST00000173091] [ENSMUST00000173635] [ENSMUST00000174786]

AlphaFold

O08580

Predicted Effect

probably benign
Transcript: ENSMUST00000025904

SMART Domains

Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953

Domain	Start	End	E-Value	Type
Pfam:Redoxin	53	206	1e-31	PFAM
Pfam:AhpC-TSA	54	189	8.4e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025906
AA Change: A182E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: A182E

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	6.74e-5	PROSPERO
low complexity region	52	67	N/A	INTRINSIC
ZnF_C4	76	147	2.16e-40	SMART
low complexity region	169	187	N/A	INTRINSIC
internal_repeat_1	202	218	6.74e-5	PROSPERO
HOLI	229	391	9.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088257

SMART Domains

Protein: ENSMUSP00000085591
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	112	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116551

SMART Domains

Protein: ENSMUSP00000112250
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	112	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173091

SMART Domains

Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953

Domain	Start	End	E-Value	Type
Pfam:Redoxin	53	99	3.3e-11	PFAM
Pfam:AhpC-TSA	54	100	9.3e-8	PFAM
Pfam:Redoxin	97	163	1.8e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173635
AA Change: A39E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955
AA Change: A39E

Domain	Start	End	E-Value	Type
PDB:1LO1\|A	1	21	6e-7	PDB
low complexity region	26	44	N/A	INTRINSIC
Pfam:Hormone_recep	65	158	4.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174786

SMART Domains

Protein: ENSMUSP00000134000
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	101	5.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice for one mutation were viable but showed reduced weight gain associated with decreased peripheral fat deposition. Mutant mice were resistant to high-fat diet induced obesity. Another targeted mutation resulted in no significant abnormalities in homozygotes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,381,835	H321L	probably damaging	Het
Adamts3	T	C	5: 89,861,397	S136G	probably benign	Het
Apba3	T	A	10: 81,272,346	N445K	probably damaging	Het
Aqp6	A	G	15: 99,603,771	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,500,343	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,214,151	I379T	probably damaging	Het
Ccdc169	A	G	3: 55,140,109	D7G	probably damaging	Het
Cyp2f2	T	A	7: 27,131,359		probably null	Het
Daam2	T	A	17: 49,480,727	K453*	probably null	Het
Dennd4c	T	C	4: 86,811,612	L817P	probably damaging	Het
Efcab6	T	A	15: 83,870,988	R1376W	probably damaging	Het
Fam234b	T	A	6: 135,226,876	V392E	probably damaging	Het
Fanca	A	G	8: 123,271,260	V1229A	probably benign	Het
Fdps	G	T	3: 89,099,386	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,627,589	D1269E	probably benign	Het
Foxred1	G	A	9: 35,205,636	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,967,624	V226I	possibly damaging	Het
Gcnt2	C	A	13: 40,860,867	C171*	probably null	Het
Glyat	C	A	19: 12,639,808	A8E	probably damaging	Het
Golgb1	C	A	16: 36,875,396	R86S	unknown	Het
Hc	T	A	2: 35,050,419	T136S	probably damaging	Het
Hdac1	G	T	4: 129,517,466	S421*	probably null	Het
Hmcn2	G	T	2: 31,356,286	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,193,587	N54S	probably benign	Het
Impad1	G	A	4: 4,778,207	T177I	probably damaging	Het
Itgae	T	A	11: 73,121,960	V706E	possibly damaging	Het
Itgax	G	A	7: 128,148,090	V992M	probably damaging	Het
Klk10	A	G	7: 43,784,427	D221G	probably benign	Het
Klkb1	T	C	8: 45,278,113	I205V	probably benign	Het
Kpna2	T	C	11: 106,998,757	N8S	probably null	Het
L3mbtl1	A	C	2: 162,964,514	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,661,549	C4181Y		Het
Mcat	T	C	15: 83,547,671	Y332C	probably damaging	Het
Mecom	T	C	3: 29,956,385	D648G	probably damaging	Het
Mesp2	A	T	7: 79,810,969	D14V	probably damaging	Het
Mlh3	A	T	12: 85,268,199	Y404*	probably null	Het
Mterf3	A	T	13: 66,917,148	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,512,062	V602A	probably benign	Het
Olfr1247	T	A	2: 89,609,227	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,374,660	F209L	probably damaging	Het
Pmp22	C	A	11: 63,158,348	A139D	probably damaging	Het
Polr2e	T	C	10: 80,038,570	D34G	possibly damaging	Het
Ppard	T	A	17: 28,297,117	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,850,745	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,519	A1536V	not run	Het
Rabgap1	TGGGG	TGGG	2: 37,502,896		probably null	Het
Retreg1	T	A	15: 25,971,641	D222E	probably benign	Het
Rmnd1	T	C	10: 4,413,404	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sall3	C	T	18: 80,972,052	R887H	possibly damaging	Het
Samd3	A	G	10: 26,263,813	D281G	probably benign	Het
Scube1	T	A	15: 83,613,452	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 130,040,811		probably benign	Het
Slc2a2	A	G	3: 28,698,017	M1V	probably null	Het
Slc39a2	A	T	14: 51,895,031	T144S	probably benign	Het
Slc5a9	T	C	4: 111,877,740	H619R	probably benign	Het
Slco4a1	T	C	2: 180,471,255	F427L	probably benign	Het
Snapc3	C	A	4: 83,417,836	Y28*	probably null	Het
St3gal6	C	T	16: 58,473,437	R243H	probably benign	Het
Stat2	T	A	10: 128,277,197	N119K	possibly damaging	Het
Syne2	G	C	12: 75,966,371	V2779L	probably benign	Het
Tacc1	T	A	8: 25,201,285	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,151,833	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,680	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,986,224	I18T	probably benign	Het
Wdr35	G	C	12: 9,024,886	A1000P	probably benign	Het
Wnk1	C	A	6: 119,929,828	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,994,613	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,437,833	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,331,856	K265R	probably benign	Het
Zfp575	T	C	7: 24,586,668	D21G	probably benign	Het

Other mutations in Esrra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Esrra	APN	19	6912732	missense	probably damaging	1.00
IGL02153:Esrra	APN	19	6913822	missense	probably benign	0.38
IGL02396:Esrra	APN	19	6912005	missense	probably benign
IGL02642:Esrra	APN	19	6912850	missense	possibly damaging	0.85
R1463:Esrra	UTSW	19	6912455	missense	probably benign
R1484:Esrra	UTSW	19	6912829	missense	probably damaging	1.00
R1546:Esrra	UTSW	19	6920297	missense	probably benign	0.07
R1848:Esrra	UTSW	19	6912010	missense	probably benign	0.05
R2397:Esrra	UTSW	19	6920176	missense	probably damaging	1.00
R4853:Esrra	UTSW	19	6920072	missense	probably damaging	1.00
R5580:Esrra	UTSW	19	6920387	start codon destroyed	probably null	0.01
R5587:Esrra	UTSW	19	6920207	missense	probably benign
R6270:Esrra	UTSW	19	6914120	splice site	probably null
R6612:Esrra	UTSW	19	6911852	missense	probably benign	0.01
R6807:Esrra	UTSW	19	6911774	missense	probably benign	0.14
R7288:Esrra	UTSW	19	6912771	nonsense	probably null
R9242:Esrra	UTSW	19	6912495	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGCTTCTACTTGGGCATCTG -3'
(R):5'- TGAGATCACCAAGCGGAGAC -3'

Sequencing Primer
(F):5'- ATTGTCCTTGAACGTACTACAGC -3'
(R):5'- TGCCGCTTCACCAAGTG -3'

Posted On

2019-10-24