Incidental Mutation 'R1108:Esrrb'
| ID |
98570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrrb
|
| Ensembl Gene |
ENSMUSG00000021255 |
| Gene Name |
estrogen related receptor, beta |
| Synonyms |
ERRb, Estrrb, ERR2, Err2 |
| MMRRC Submission |
039181-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1108 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
86407891-86568402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86552604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 182
(R182Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021680]
[ENSMUST00000110203]
[ENSMUST00000110204]
[ENSMUST00000116402]
[ENSMUST00000167891]
|
| AlphaFold |
Q61539 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021680
AA Change: R177Q
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: R177Q
| 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: R198Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255
AA Change: R198Q
| 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 |
possibly damaging
Transcript: ENSMUST00000110204
AA Change: R198Q
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: R198Q
| 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: R182Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: R182Q
| 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 |
possibly damaging
Transcript: ENSMUST00000167891
AA Change: R177Q
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: R177Q
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Calb2 |
T |
A |
8: 110,869,760 (GRCm39) |
R258* |
probably null |
Het |
| Cep128 |
T |
A |
12: 91,305,883 (GRCm39) |
E173D |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,185 (GRCm39) |
C192R |
probably damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Fgf22 |
T |
C |
10: 79,592,417 (GRCm39) |
I58T |
probably damaging |
Het |
| Flcn |
A |
G |
11: 59,692,026 (GRCm39) |
F208L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,790,488 (GRCm39) |
C954Y |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,760,359 (GRCm39) |
L530I |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,291,924 (GRCm39) |
E548G |
probably damaging |
Het |
| Myh4 |
T |
G |
11: 67,146,532 (GRCm39) |
L1502V |
probably null |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or7e174 |
A |
C |
9: 20,012,121 (GRCm39) |
D22A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,259,667 (GRCm39) |
M510T |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,768,066 (GRCm39) |
W177R |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,375 (GRCm39) |
R800G |
probably benign |
Het |
| Zfp971 |
C |
T |
2: 177,675,463 (GRCm39) |
P354L |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
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 |
|
R0946:Esrrb
|
UTSW |
12 |
86,552,598 (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 |
2014-01-05 |
Incidental Mutation