Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Esrra'

507305

Institutional Source

Beutler Lab

Gene Symbol

Esrra

Ensembl Gene

ENSMUSG00000024955

Gene Name

estrogen related receptor, alpha

Synonyms

ERRalpha, Err1, Nr3b1, Estrra

MMRRC Submission

044441-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6888345-6899182 bp(-) (GRCm39)

Type of Mutation

splice site (3092 bp from exon)

DNA Base Change (assembly)

C to T at 6891488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134000 (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

probably damaging
Transcript: ENSMUST00000025906
AA Change: C134Y

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

SMART Domains

Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: C134Y

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 null
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 null
Transcript: ENSMUST00000116551

SMART Domains

Protein: ENSMUSP00000112250
Gene: ENSMUSG00000038812

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172869

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

noncoding transcript
Transcript: ENSMUST00000183724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173308

Predicted Effect

probably benign
Transcript: ENSMUST00000173635

SMART Domains

Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955

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 null
Transcript: ENSMUST00000174786

SMART Domains

Protein: ENSMUSP00000134000
Gene: ENSMUSG00000038812

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

Meta Mutation Damage Score

0.9686

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,242,933 (GRCm39)	E648G	probably benign	Het
Ak7	A	G	12: 105,734,960 (GRCm39)	H642R	probably benign	Het
Akap11	T	C	14: 78,756,239 (GRCm39)	E53G	probably damaging	Het
Ark2n	T	C	18: 77,762,117 (GRCm39)	D65G	probably damaging	Het
Ddr2	T	G	1: 169,816,109 (GRCm39)	T533P	probably benign	Het
Dhx40	A	G	11: 86,690,431 (GRCm39)	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,282,281 (GRCm39)		probably benign	Het
Eng	A	G	2: 32,563,655 (GRCm39)	D347G	probably benign	Het
Fap	T	C	2: 62,378,132 (GRCm39)	I159V	probably damaging	Het
Fn1	C	T	1: 71,676,434 (GRCm39)	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,587,807 (GRCm39)	V395A	probably damaging	Het
Foxn3	T	C	12: 99,354,676 (GRCm39)	R163G	probably damaging	Het
Gphn	T	G	12: 78,569,724 (GRCm39)	L306R	probably benign	Het
Gse1	T	C	8: 121,295,902 (GRCm39)		probably benign	Het
Habp2	A	G	19: 56,295,295 (GRCm39)	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,706,376 (GRCm39)		probably null	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Kit	A	G	5: 75,770,169 (GRCm39)	T194A	probably benign	Het
Krt16	C	A	11: 100,138,029 (GRCm39)	A316S	possibly damaging	Het
Krt7	A	G	15: 101,317,439 (GRCm39)	D244G	probably damaging	Het
Lhfpl3	T	A	5: 23,478,349 (GRCm39)	Y77*	probably null	Het
Lrrc18	A	T	14: 32,731,078 (GRCm39)	M206L	probably benign	Het
Magel2	C	A	7: 62,030,406 (GRCm39)	C1103*	probably null	Het
Mcf2l	T	C	8: 13,068,701 (GRCm39)	V1058A	probably damaging	Het
Nbas	G	A	12: 13,374,294 (GRCm39)	A541T	probably damaging	Het
Nrap	C	T	19: 56,308,630 (GRCm39)	M1485I	probably benign	Het
Nudt18	T	C	14: 70,816,830 (GRCm39)	Y145H	probably benign	Het
Or51b6b	T	C	7: 103,309,620 (GRCm39)	Y279C	possibly damaging	Het
Or51f1d	T	C	7: 102,700,538 (GRCm39)	L11P	probably benign	Het
Or5k8	A	T	16: 58,644,782 (GRCm39)	C97S	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb12	A	T	18: 37,569,838 (GRCm39)	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,146,884 (GRCm39)	W431R	probably damaging	Het
Pga5	T	C	19: 10,652,225 (GRCm39)	E139G	probably benign	Het
Pkdrej	G	T	15: 85,705,306 (GRCm39)	S210*	probably null	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Sema3d	A	T	5: 12,498,074 (GRCm39)	M27L	probably benign	Het
Serinc5	T	C	13: 92,825,170 (GRCm39)	S200P	probably damaging	Het
Sf3b3	T	C	8: 111,568,452 (GRCm39)	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,665,413 (GRCm39)		probably null	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf3	T	C	6: 42,570,725 (GRCm39)	I342M	probably benign	Het
Tenm3	G	A	8: 48,820,429 (GRCm39)	T136M	probably damaging	Het
Tet3	T	C	6: 83,352,773 (GRCm39)	T1008A	possibly damaging	Het
Tgif1	T	C	17: 71,151,861 (GRCm39)		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,887,323 (GRCm39)	D81G	probably benign	Het
Trpv5	T	A	6: 41,651,293 (GRCm39)	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,854,537 (GRCm39)	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,159 (GRCm39)	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,129,649 (GRCm39)	I847V	probably benign	Het
Zfp474	A	G	18: 52,771,436 (GRCm39)	T30A	probably benign	Het
Zswim4	C	T	8: 84,957,580 (GRCm39)	V163M	probably damaging	Het

Other mutations in Esrra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Esrra	APN	19	6,890,100 (GRCm39)	missense	probably damaging	1.00
IGL02153:Esrra	APN	19	6,891,190 (GRCm39)	missense	probably benign	0.38
IGL02396:Esrra	APN	19	6,889,373 (GRCm39)	missense	probably benign
IGL02642:Esrra	APN	19	6,890,218 (GRCm39)	missense	possibly damaging	0.85
R1463:Esrra	UTSW	19	6,889,823 (GRCm39)	missense	probably benign
R1484:Esrra	UTSW	19	6,890,197 (GRCm39)	missense	probably damaging	1.00
R1546:Esrra	UTSW	19	6,897,665 (GRCm39)	missense	probably benign	0.07
R1848:Esrra	UTSW	19	6,889,378 (GRCm39)	missense	probably benign	0.05
R2397:Esrra	UTSW	19	6,897,544 (GRCm39)	missense	probably damaging	1.00
R4853:Esrra	UTSW	19	6,897,440 (GRCm39)	missense	probably damaging	1.00
R5580:Esrra	UTSW	19	6,897,755 (GRCm39)	start codon destroyed	probably null	0.01
R5587:Esrra	UTSW	19	6,897,575 (GRCm39)	missense	probably benign
R6612:Esrra	UTSW	19	6,889,220 (GRCm39)	missense	probably benign	0.01
R6807:Esrra	UTSW	19	6,889,142 (GRCm39)	missense	probably benign	0.14
R7288:Esrra	UTSW	19	6,890,139 (GRCm39)	nonsense	probably null
R7599:Esrra	UTSW	19	6,891,214 (GRCm39)	missense	possibly damaging	0.91
R9242:Esrra	UTSW	19	6,889,863 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCAGACGCACACCTTGAATTG -3'
(R):5'- CTGCTCATGGAATCCTGCTC -3'

Sequencing Primer
(F):5'- GACGCACACCTTGAATTGTAAAG -3'
(R):5'- AATACCCCCAGACTGGTGCTTG -3'

Posted On

2018-03-15