Incidental Mutation 'R0946:Esrrb'
| ID |
82122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrrb
|
| Ensembl Gene |
ENSMUSG00000021255 |
| Gene Name |
estrogen related receptor, beta |
| Synonyms |
ERRb, Estrrb, ERR2, Err2 |
| MMRRC Submission |
039085-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
86407891-86568402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86552598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 180
(L180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021680]
[ENSMUST00000110203]
[ENSMUST00000110204]
[ENSMUST00000116402]
[ENSMUST00000167891]
|
| AlphaFold |
Q61539 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021680
AA Change: L175P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: L175P
| 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 damaging
Transcript: ENSMUST00000110203
AA Change: L196P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255
AA Change: L196P
| 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 damaging
Transcript: ENSMUST00000110204
AA Change: L196P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: L196P
| 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 damaging
Transcript: ENSMUST00000116402
AA Change: L180P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: L180P
| 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 |
noncoding transcript
Transcript: ENSMUST00000136464
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167891
AA Change: L175P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: L175P
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
A |
G |
14: 34,234,099 (GRCm39) |
M64T |
unknown |
Het |
| Adamts15 |
C |
T |
9: 30,813,493 (GRCm39) |
G891R |
probably damaging |
Het |
| Adck5 |
G |
A |
15: 76,477,486 (GRCm39) |
V107I |
possibly damaging |
Het |
| Aoc3 |
G |
A |
11: 101,223,131 (GRCm39) |
V456M |
possibly damaging |
Het |
| Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,654,442 (GRCm39) |
H693R |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,406,509 (GRCm39) |
T414A |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
| Coasy |
G |
T |
11: 100,976,696 (GRCm39) |
V489F |
probably damaging |
Het |
| Ercc6 |
A |
T |
14: 32,274,578 (GRCm39) |
M574L |
probably benign |
Het |
| Fam83b |
A |
T |
9: 76,398,679 (GRCm39) |
V808D |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,909,100 (GRCm39) |
V2301I |
possibly damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,435,075 (GRCm39) |
R83S |
probably damaging |
Het |
| Hyal4 |
T |
A |
6: 24,755,912 (GRCm39) |
Y43* |
probably null |
Het |
| Hydin |
C |
A |
8: 111,257,685 (GRCm39) |
L2372M |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,809 (GRCm39) |
V145A |
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
| Muc21 |
A |
C |
17: 35,929,105 (GRCm39) |
S1581A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,142,577 (GRCm39) |
I913V |
possibly damaging |
Het |
| Nat10 |
C |
T |
2: 103,561,719 (GRCm39) |
G654D |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
| Nup50l |
A |
T |
6: 96,142,677 (GRCm39) |
N122K |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,128 (GRCm39) |
Y503C |
unknown |
Het |
| Or11g7 |
C |
A |
14: 50,691,130 (GRCm39) |
T207K |
probably benign |
Het |
| Pappa |
G |
T |
4: 65,233,029 (GRCm39) |
|
probably null |
Het |
| Pfas |
A |
G |
11: 68,884,121 (GRCm39) |
|
probably null |
Het |
| Pfas |
G |
T |
11: 68,881,573 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
T |
1: 105,519,422 (GRCm39) |
M500K |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,605 (GRCm39) |
K3313R |
probably benign |
Het |
| Ptk2b |
A |
G |
14: 66,396,047 (GRCm39) |
V807A |
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
| Rfpl4b |
A |
T |
10: 38,696,833 (GRCm39) |
I256N |
probably benign |
Het |
| Skap1 |
C |
G |
11: 96,432,295 (GRCm39) |
S88* |
probably null |
Het |
| Slc4a2 |
T |
C |
5: 24,640,884 (GRCm39) |
S742P |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,265,599 (GRCm39) |
D647G |
probably damaging |
Het |
| Tmem184c |
A |
C |
8: 78,331,386 (GRCm39) |
V121G |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,507,421 (GRCm39) |
I118V |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,554,588 (GRCm39) |
Y446* |
probably null |
Het |
| Trim37 |
A |
G |
11: 87,037,781 (GRCm39) |
R172G |
probably damaging |
Het |
| Vgll4 |
C |
A |
6: 114,867,768 (GRCm39) |
|
probably null |
Het |
| Vgll4 |
T |
A |
6: 114,867,769 (GRCm39) |
|
probably null |
Het |
| Vmn1r5 |
T |
G |
6: 56,963,150 (GRCm39) |
I275S |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,187,874 (GRCm39) |
H584Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp282 |
T |
A |
6: 47,856,943 (GRCm39) |
W59R |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,754,103 (GRCm39) |
T186S |
probably benign |
Het |
|
| Other mutations in Esrrb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02621:Esrrb
|
APN |
12 |
86,468,735 (GRCm39) |
missense |
probably benign |
|
|
R0083:Esrrb
|
UTSW |
12 |
86,561,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Esrrb
|
UTSW |
12 |
86,517,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Esrrb
|
UTSW |
12 |
86,552,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0834:Esrrb
|
UTSW |
12 |
86,517,071 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1108:Esrrb
|
UTSW |
12 |
86,552,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Esrrb
|
UTSW |
12 |
86,561,274 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1674:Esrrb
|
UTSW |
12 |
86,561,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Esrrb
|
UTSW |
12 |
86,468,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4592:Esrrb
|
UTSW |
12 |
86,565,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Esrrb
|
UTSW |
12 |
86,565,783 (GRCm39) |
nonsense |
probably null |
|
|
R5807:Esrrb
|
UTSW |
12 |
86,561,175 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5871:Esrrb
|
UTSW |
12 |
86,552,661 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6145:Esrrb
|
UTSW |
12 |
86,552,673 (GRCm39) |
missense |
probably benign |
|
|
R6467:Esrrb
|
UTSW |
12 |
86,561,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Esrrb
|
UTSW |
12 |
86,517,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7289:Esrrb
|
UTSW |
12 |
86,517,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8283:Esrrb
|
UTSW |
12 |
86,468,732 (GRCm39) |
missense |
probably benign |
|
|
R8444:Esrrb
|
UTSW |
12 |
86,552,595 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8712:Esrrb
|
UTSW |
12 |
86,565,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Esrrb
|
UTSW |
12 |
86,517,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8794:Esrrb
|
UTSW |
12 |
86,517,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8812:Esrrb
|
UTSW |
12 |
86,535,324 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9369:Esrrb
|
UTSW |
12 |
86,517,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCATTCACCTGGAGATTTGGAAC -3'
(R):5'- TCGGATGAAGCCAGGCAATAGC -3'
Sequencing Primer
(F):5'- TGTTGTCGTTCttgttttgttttg -3'
(R):5'- GCAAGCAGGCACTGTTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation