Incidental Mutation 'R5543:Esrrg'
| ID |
436076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrrg
|
| Ensembl Gene |
ENSMUSG00000026610 |
| Gene Name |
estrogen-related receptor gamma |
| Synonyms |
ERR3, estrogen-related receptor 3, Errg, NR3B3 |
| MMRRC Submission |
043101-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5543 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
187340988-187947082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 187882451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 236
(D236V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027906]
[ENSMUST00000110938]
[ENSMUST00000110939]
|
| AlphaFold |
P62509 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027906
AA Change: D259V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610
AA Change: D259V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
70 |
N/A |
INTRINSIC |
|
ZnF_C4
|
125 |
196 |
4.04e-40 |
SMART |
|
Blast:HOLI
|
203 |
233 |
5e-6 |
BLAST |
|
HOLI
|
270 |
428 |
1.64e-40 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110938
AA Change: D236V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610
AA Change: D236V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
47 |
N/A |
INTRINSIC |
|
ZnF_C4
|
102 |
173 |
4.04e-40 |
SMART |
|
Blast:HOLI
|
180 |
210 |
4e-6 |
BLAST |
|
HOLI
|
247 |
405 |
1.64e-40 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110939
AA Change: D236V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610
AA Change: D236V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
47 |
N/A |
INTRINSIC |
|
ZnF_C4
|
102 |
173 |
4.04e-40 |
SMART |
|
Blast:HOLI
|
180 |
210 |
4e-6 |
BLAST |
|
HOLI
|
247 |
405 |
1.64e-40 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]
PHENOTYPE: Nullizygous mutations lead to postnatal lethality. Homozygotes for a null allele show reduced birth weight, fasting hyperlactatemia, altered electrocardiograms and mitochondrial function, and agenesis of the renal papilla. Surviving homozygotes for a different null allele exhibit hearing loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
C |
A |
7: 127,836,353 (GRCm39) |
S80I |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,959,627 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
A |
G |
7: 45,638,960 (GRCm39) |
|
probably null |
Het |
| Acvr1 |
A |
G |
2: 58,353,157 (GRCm39) |
S268P |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,122,351 (GRCm39) |
|
probably null |
Het |
| Atp5po |
T |
C |
16: 91,723,418 (GRCm39) |
I58V |
probably benign |
Het |
| AU040320 |
C |
T |
4: 126,735,017 (GRCm39) |
T777M |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,194,026 (GRCm39) |
N89I |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,457,407 (GRCm39) |
T1151K |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,228 (GRCm39) |
V2314A |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,595,808 (GRCm39) |
S1881P |
probably damaging |
Het |
| E4f1 |
A |
G |
17: 24,666,336 (GRCm39) |
V24A |
possibly damaging |
Het |
| Fam240b |
T |
A |
13: 64,633,736 (GRCm39) |
I27F |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,476,516 (GRCm39) |
I1854N |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,920,906 (GRCm39) |
Y480H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,676,394 (GRCm39) |
N47S |
probably benign |
Het |
| Gabrr3 |
T |
C |
16: 59,253,870 (GRCm39) |
S196P |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,165,696 (GRCm39) |
D319V |
possibly damaging |
Het |
| Hrh3 |
G |
T |
2: 179,745,763 (GRCm39) |
A61E |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,818,095 (GRCm39) |
I89T |
probably benign |
Het |
| Ifitm3 |
T |
A |
7: 140,589,730 (GRCm39) |
I108F |
unknown |
Het |
| Izumo4 |
T |
C |
10: 80,538,668 (GRCm39) |
F40S |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,551,242 (GRCm39) |
R679G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Ldha |
A |
T |
7: 46,500,314 (GRCm39) |
I171F |
possibly damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,662,191 (GRCm39) |
S609G |
probably benign |
Het |
| Mmp15 |
T |
C |
8: 96,094,729 (GRCm39) |
F201S |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,969,778 (GRCm39) |
V295I |
probably benign |
Het |
| Or1n2 |
C |
T |
2: 36,797,369 (GRCm39) |
T137I |
possibly damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,993 (GRCm39) |
M261L |
probably damaging |
Het |
| Or5m12 |
G |
T |
2: 85,734,672 (GRCm39) |
A242D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,655,137 (GRCm39) |
D1778G |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,247,886 (GRCm39) |
D969E |
probably benign |
Het |
| Pibf1 |
A |
T |
14: 99,350,428 (GRCm39) |
N192I |
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 71,947,023 (GRCm39) |
F792S |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,637,199 (GRCm39) |
I604N |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,887,775 (GRCm39) |
Y188H |
probably damaging |
Het |
| Plxnc1 |
G |
T |
10: 94,700,636 (GRCm39) |
D643E |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,501,080 (GRCm39) |
P1241L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,977,990 (GRCm39) |
E173G |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,416,557 (GRCm39) |
V232A |
probably damaging |
Het |
| Shbg |
A |
G |
11: 69,507,564 (GRCm39) |
I171T |
probably damaging |
Het |
| Slc22a14 |
A |
T |
9: 119,002,674 (GRCm39) |
F404L |
probably benign |
Het |
| Slc37a3 |
C |
A |
6: 39,331,960 (GRCm39) |
G158C |
probably damaging |
Het |
| Slfn9 |
C |
A |
11: 82,873,207 (GRCm39) |
L565F |
probably damaging |
Het |
| Spmip10 |
G |
A |
18: 56,727,760 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,195,180 (GRCm39) |
M1068K |
probably damaging |
Het |
| Trbv15 |
A |
T |
6: 41,118,187 (GRCm39) |
I15L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,569,918 (GRCm39) |
V26992M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b34 |
T |
A |
5: 87,054,560 (GRCm39) |
I74F |
probably damaging |
Het |
| Vamp3 |
A |
G |
4: 151,135,477 (GRCm39) |
L47P |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,682,522 (GRCm39) |
C363* |
probably null |
Het |
| Zfp438 |
T |
C |
18: 5,213,761 (GRCm39) |
E399G |
probably damaging |
Het |
|
| Other mutations in Esrrg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Esrrg
|
APN |
1 |
187,943,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01635:Esrrg
|
APN |
1 |
187,930,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Esrrg
|
APN |
1 |
187,943,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02740:Esrrg
|
APN |
1 |
187,930,938 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03126:Esrrg
|
APN |
1 |
187,730,184 (GRCm39) |
intron |
probably benign |
|
|
IGL03391:Esrrg
|
APN |
1 |
187,882,420 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0395:Esrrg
|
UTSW |
1 |
187,930,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Esrrg
|
UTSW |
1 |
187,775,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1593:Esrrg
|
UTSW |
1 |
187,798,582 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1700:Esrrg
|
UTSW |
1 |
187,775,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Esrrg
|
UTSW |
1 |
187,943,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Esrrg
|
UTSW |
1 |
187,882,387 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3605:Esrrg
|
UTSW |
1 |
187,943,299 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4384:Esrrg
|
UTSW |
1 |
187,775,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Esrrg
|
UTSW |
1 |
187,878,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Esrrg
|
UTSW |
1 |
187,775,622 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5511:Esrrg
|
UTSW |
1 |
187,943,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5516:Esrrg
|
UTSW |
1 |
187,930,927 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5686:Esrrg
|
UTSW |
1 |
187,882,395 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5990:Esrrg
|
UTSW |
1 |
187,930,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Esrrg
|
UTSW |
1 |
187,930,904 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6030:Esrrg
|
UTSW |
1 |
187,930,904 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7058:Esrrg
|
UTSW |
1 |
187,882,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Esrrg
|
UTSW |
1 |
187,878,620 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8512:Esrrg
|
UTSW |
1 |
187,775,777 (GRCm39) |
nonsense |
probably null |
|
|
R8735:Esrrg
|
UTSW |
1 |
187,933,205 (GRCm39) |
intron |
probably benign |
|
|
R8973:Esrrg
|
UTSW |
1 |
187,930,947 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8986:Esrrg
|
UTSW |
1 |
187,943,104 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9114:Esrrg
|
UTSW |
1 |
187,878,606 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9114:Esrrg
|
UTSW |
1 |
187,878,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9483:Esrrg
|
UTSW |
1 |
187,930,848 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9760:Esrrg
|
UTSW |
1 |
187,775,569 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Esrrg
|
UTSW |
1 |
187,882,415 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Esrrg
|
UTSW |
1 |
187,775,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATGGTGGAGTACGTGTG -3'
(R):5'- TGCAGAGTTAAGTGCAGACAAC -3'
Sequencing Primer
(F):5'- AGTACGTGTGTTTGATGGTAGGATAC -3'
(R):5'- CAACAGAGAGTTAGAAATGATCTCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation