Incidental Mutation 'IGL00333:Nr2f1'
| ID |
4282 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr2f1
|
| Ensembl Gene |
ENSMUSG00000069171 |
| Gene Name |
nuclear receptor subfamily 2, group F, member 1 |
| Synonyms |
Tcfcoup1, COUP-TF1, COUP-TFI, Erbal3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
78337090-78346954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78337952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 231
(V231E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091458]
[ENSMUST00000125176]
[ENSMUST00000127137]
[ENSMUST00000150498]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091458
AA Change: V388E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171
AA Change: V388E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
ZnF_C4
|
80 |
151 |
3.01e-39 |
SMART |
|
HOLI
|
218 |
378 |
5.16e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125176
AA Change: V241E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171
AA Change: V241E
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
71 |
231 |
5.16e-47 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127137
AA Change: V231E
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171
AA Change: V231E
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
61 |
221 |
5.16e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135284
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150498
AA Change: V231E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171
AA Change: V231E
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
61 |
221 |
5.16e-47 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for a null allele die perinatally with axon guidance defects in all forebrain commissures. Homozygotes for another null allele show neonatal death, impaired cranial ganglion IX formation and axon guidance, increased cochlear HC and support cell number, and altered cortex regionalization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
T |
C |
9: 74,933,072 (GRCm39) |
I1006T |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bag6 |
T |
G |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Ccdc8 |
T |
A |
7: 16,729,967 (GRCm39) |
D485E |
unknown |
Het |
| Cyp2c54 |
A |
C |
19: 40,060,522 (GRCm39) |
V153G |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,816,880 (GRCm39) |
T499S |
possibly damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,549,537 (GRCm39) |
*107R |
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Klk1b27 |
T |
A |
7: 43,705,567 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
C |
A |
17: 71,550,967 (GRCm39) |
T709K |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,849,017 (GRCm39) |
L945P |
probably benign |
Het |
| Lrrn4 |
C |
T |
2: 132,712,737 (GRCm39) |
C362Y |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,320 (GRCm39) |
S184P |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,474 (GRCm39) |
Y216* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,452,522 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
C |
12: 9,629,432 (GRCm39) |
I102L |
probably benign |
Het |
| Pcbd1 |
A |
T |
10: 60,927,949 (GRCm39) |
Q37L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,571,691 (GRCm39) |
Q359* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,387,895 (GRCm39) |
|
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,291,491 (GRCm39) |
M105T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,447,387 (GRCm39) |
T2184A |
probably benign |
Het |
| Synpo2 |
C |
T |
3: 122,906,859 (GRCm39) |
G819D |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,654 (GRCm39) |
V180A |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,433,210 (GRCm39) |
D324G |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,606,970 (GRCm39) |
L328* |
probably null |
Het |
| Tmem253 |
T |
C |
14: 52,255,418 (GRCm39) |
L76P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,623 (GRCm39) |
V46I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,779,425 (GRCm39) |
F1152I |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,257,101 (GRCm39) |
V139A |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,351,597 (GRCm39) |
D212G |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,574 (GRCm39) |
L1622Q |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,364 (GRCm39) |
T162A |
probably damaging |
Het |
|
| Other mutations in Nr2f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Nr2f1
|
APN |
13 |
78,346,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Nr2f1
|
APN |
13 |
78,346,233 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02346:Nr2f1
|
APN |
13 |
78,343,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02586:Nr2f1
|
APN |
13 |
78,343,275 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02587:Nr2f1
|
APN |
13 |
78,343,275 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02588:Nr2f1
|
APN |
13 |
78,343,275 (GRCm39) |
unclassified |
probably benign |
|
|
R1470:Nr2f1
|
UTSW |
13 |
78,346,284 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1470:Nr2f1
|
UTSW |
13 |
78,346,284 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1865:Nr2f1
|
UTSW |
13 |
78,338,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Nr2f1
|
UTSW |
13 |
78,337,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2284:Nr2f1
|
UTSW |
13 |
78,343,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Nr2f1
|
UTSW |
13 |
78,343,794 (GRCm39) |
nonsense |
probably null |
|
|
R4542:Nr2f1
|
UTSW |
13 |
78,337,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Nr2f1
|
UTSW |
13 |
78,344,611 (GRCm39) |
intron |
probably benign |
|
|
R6285:Nr2f1
|
UTSW |
13 |
78,343,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7305:Nr2f1
|
UTSW |
13 |
78,343,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Nr2f1
|
UTSW |
13 |
78,343,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Nr2f1
|
UTSW |
13 |
78,343,716 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7884:Nr2f1
|
UTSW |
13 |
78,337,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7954:Nr2f1
|
UTSW |
13 |
78,338,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Nr2f1
|
UTSW |
13 |
78,343,565 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8875:Nr2f1
|
UTSW |
13 |
78,337,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8959:Nr2f1
|
UTSW |
13 |
78,337,873 (GRCm39) |
nonsense |
probably null |
|
|
R9115:Nr2f1
|
UTSW |
13 |
78,337,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation