Incidental Mutation 'R5871:Esrrb'
| ID |
455204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrrb
|
| Ensembl Gene |
ENSMUSG00000021255 |
| Gene Name |
estrogen related receptor, beta |
| Synonyms |
ERRb, Estrrb, ERR2, Err2 |
| MMRRC Submission |
043234-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
86407891-86568402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86552661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 196
(Y196C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021680]
[ENSMUST00000110203]
[ENSMUST00000110204]
[ENSMUST00000116402]
[ENSMUST00000167891]
|
| AlphaFold |
Q61539 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021680
AA Change: Y196C
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021680
Gene: ENSMUSG00000021255
AA Change: Y196C
| 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 benign
Transcript: ENSMUST00000110203
AA Change: Y217C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000105832
Gene: ENSMUSG00000021255
AA Change: Y217C
| 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 benign
Transcript: ENSMUST00000110204
AA Change: Y217C
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105833
Gene: ENSMUSG00000021255
AA Change: Y217C
| 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 benign
Transcript: ENSMUST00000116402
AA Change: Y201C
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112103
Gene: ENSMUSG00000021255
AA Change: Y201C
| 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 benign
Transcript: ENSMUST00000167891
AA Change: Y196C
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131335
Gene: ENSMUSG00000021255
AA Change: Y196C
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
A |
T |
1: 173,159,640 (GRCm39) |
L293Q |
probably damaging |
Het |
| Ankrd13d |
A |
G |
19: 4,332,022 (GRCm39) |
V92A |
possibly damaging |
Het |
| Anxa5 |
T |
A |
3: 36,506,398 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,902,946 (GRCm39) |
M135V |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,558 (GRCm39) |
F54L |
probably benign |
Het |
| Chrng |
T |
C |
1: 87,134,451 (GRCm39) |
V164A |
possibly damaging |
Het |
| Clca3a1 |
T |
G |
3: 144,460,642 (GRCm39) |
S271R |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,752,112 (GRCm39) |
T1282I |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,519,057 (GRCm39) |
|
probably null |
Het |
| Fam76a |
T |
C |
4: 132,631,321 (GRCm39) |
D208G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,243 (GRCm39) |
E520G |
probably benign |
Het |
| Fgf9 |
A |
T |
14: 58,320,656 (GRCm39) |
|
probably null |
Het |
| Gatb |
T |
A |
3: 85,561,083 (GRCm39) |
L533* |
probably null |
Het |
| Igsf10 |
G |
T |
3: 59,237,832 (GRCm39) |
A783D |
possibly damaging |
Het |
| Ldlrap1 |
A |
G |
4: 134,486,240 (GRCm39) |
I73T |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,280 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,064,693 (GRCm39) |
P327L |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,723,306 (GRCm39) |
Y823H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,039 (GRCm39) |
E835G |
probably damaging |
Het |
| Nfam1 |
A |
G |
15: 82,900,623 (GRCm39) |
S120P |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,367,984 (GRCm39) |
S217P |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,511 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,628 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or9m2 |
T |
C |
2: 87,821,355 (GRCm39) |
F300S |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Pik3r3 |
G |
T |
4: 116,143,355 (GRCm39) |
E283* |
probably null |
Het |
| Plcg2 |
T |
A |
8: 118,230,956 (GRCm39) |
Y13N |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,427,796 (GRCm39) |
P490S |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,190,757 (GRCm39) |
M275K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,014 (GRCm39) |
E1223G |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,986,717 (GRCm39) |
N168K |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,005,045 (GRCm39) |
V425A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,387,027 (GRCm39) |
V13A |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,103,669 (GRCm39) |
|
probably null |
Het |
| Tbrg1 |
A |
G |
9: 37,562,278 (GRCm39) |
I300T |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,736,007 (GRCm39) |
D112V |
probably benign |
Het |
| Ubxn1 |
A |
G |
19: 8,851,576 (GRCm39) |
Q203R |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,381 (GRCm39) |
D180G |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,234 (GRCm39) |
F449L |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,458 (GRCm39) |
L552P |
unknown |
Het |
| Zscan10 |
A |
G |
17: 23,826,241 (GRCm39) |
|
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 |
|
R0946:Esrrb
|
UTSW |
12 |
86,552,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCCATTCACCTGGAGATTTGG -3'
(R):5'- TTCGGATGAAGCCAGGCAATAG -3'
Sequencing Primer
(F):5'- TCCTGGAACGCACTCTGTAGAC -3'
(R):5'- CCAGGCAATAGCAAGCAGGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation