Incidental Mutation 'R2397:Esrra'
| ID |
248579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrra
|
| Ensembl Gene |
ENSMUSG00000024955 |
| Gene Name |
estrogen related receptor, alpha |
| Synonyms |
ERRalpha, Err1, Nr3b1, Estrra |
| MMRRC Submission |
040364-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2397 (G1)
|
| Quality Score |
167 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6888345-6899182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6897544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 71
(L71P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025906]
[ENSMUST00000057716]
[ENSMUST00000172975]
[ENSMUST00000173635]
|
| AlphaFold |
O08580 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025906
AA Change: L71P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: L71P
| 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: ENSMUST00000057716
|
| SMART Domains |
Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
146 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145192
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172975
AA Change: L71P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133916
Gene: ENSMUSG00000024955
AA Change: L71P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
|
ZnF_C4
|
76 |
103 |
4.05e-3 |
SMART |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1616 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,117,594 (GRCm39) |
R186W |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,622,383 (GRCm39) |
V948I |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,730,466 (GRCm39) |
T787A |
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,147 (GRCm39) |
N139I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,146,244 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,201,835 (GRCm39) |
I41T |
unknown |
Het |
| Cyp2d26 |
C |
T |
15: 82,678,236 (GRCm39) |
G47R |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,405,518 (GRCm39) |
M205K |
probably benign |
Het |
| Dyrk2 |
T |
A |
10: 118,697,273 (GRCm39) |
|
probably benign |
Het |
| Echs1 |
T |
C |
7: 139,692,390 (GRCm39) |
H119R |
possibly damaging |
Het |
| Ehf |
T |
A |
2: 103,107,164 (GRCm39) |
D120V |
probably damaging |
Het |
| Fam228a |
A |
T |
12: 4,768,718 (GRCm39) |
S200R |
probably benign |
Het |
| Fibcd1 |
A |
T |
2: 31,724,435 (GRCm39) |
M191K |
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,393,556 (GRCm39) |
L521P |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,252,995 (GRCm39) |
L154P |
probably damaging |
Het |
| Gm7964 |
T |
G |
7: 83,406,321 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
T |
C |
5: 110,353,743 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,537,717 (GRCm39) |
L197P |
probably damaging |
Het |
| Heg1 |
T |
A |
16: 33,562,849 (GRCm39) |
M913K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,845,141 (GRCm39) |
T214A |
possibly damaging |
Het |
| Ift140 |
T |
G |
17: 25,239,710 (GRCm39) |
D122E |
probably damaging |
Het |
| Jakmip1 |
T |
A |
5: 37,258,087 (GRCm39) |
D244E |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,541,224 (GRCm39) |
D23V |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,341,260 (GRCm39) |
F47I |
probably benign |
Het |
| Nr1h3 |
G |
A |
2: 91,022,202 (GRCm39) |
T142I |
possibly damaging |
Het |
| Obox2 |
C |
T |
7: 15,130,971 (GRCm39) |
P68S |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,384,518 (GRCm39) |
V515A |
probably benign |
Het |
| Ptdss2 |
T |
A |
7: 140,727,005 (GRCm39) |
F105I |
probably benign |
Het |
| Ruvbl1 |
A |
C |
6: 88,442,534 (GRCm39) |
T9P |
possibly damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,820,407 (GRCm39) |
E8G |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,251,702 (GRCm39) |
Y303* |
probably null |
Het |
| Socs5 |
T |
C |
17: 87,442,377 (GRCm39) |
F439S |
probably damaging |
Het |
| Tcp10c |
C |
A |
17: 13,590,473 (GRCm39) |
A357E |
probably damaging |
Het |
| Tmem200c |
T |
C |
17: 69,147,942 (GRCm39) |
V175A |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,269,859 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Vmn2r54 |
T |
G |
7: 12,349,578 (GRCm39) |
Q668P |
probably damaging |
Het |
| Xrcc2 |
T |
C |
5: 25,910,708 (GRCm39) |
S3G |
probably null |
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 |
|
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 |
|
|
R6270:Esrra
|
UTSW |
19 |
6,891,488 (GRCm39) |
splice site |
probably null |
|
|
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'- TGCTGACTCAAGCAGCAACAG -3'
(R):5'- GCCTCTCTACATCAAGGCAGAG -3'
Sequencing Primer
(F):5'- TGTACCAATTAGTGCCAGGC -3'
(R):5'- AGAGCCAGCCAGTCCTGAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation