Incidental Mutation 'IGL02667:Nr2f2'
| ID |
302766 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr2f2
|
| Ensembl Gene |
ENSMUSG00000030551 |
| Gene Name |
nuclear receptor subfamily 2, group F, member 2 |
| Synonyms |
COUP-TF2, EAR3, ARP-1, Tcfcoup2, 9430015G03Rik, COUP-TFII, Aporp1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
70001692-70016483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70007733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 117
(S117G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032768]
[ENSMUST00000089565]
[ENSMUST00000208081]
|
| AlphaFold |
P43135 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032768
AA Change: S250G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: S250G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
75 |
N/A |
INTRINSIC |
|
ZnF_C4
|
76 |
147 |
4.57e-39 |
SMART |
|
HOLI
|
214 |
374 |
1.29e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089565
AA Change: S117G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: S117G
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
81 |
241 |
5.2e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208081
AA Change: S97G
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208681
|
| Coding Region Coverage |
|
| 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 steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired angiogenesis and heart development with hemorrhagic brains and hearts, and die around embryonic day 10. About 5% of heterozygotes share the hemorrhagic phenotype at embryonic day 9.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6530409C15Rik |
A |
G |
6: 28,217,670 (GRCm39) |
|
noncoding transcript |
Het |
| Akr1e1 |
G |
A |
13: 4,645,666 (GRCm39) |
P174L |
possibly damaging |
Het |
| Arf5 |
C |
A |
6: 28,425,198 (GRCm39) |
N95K |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,486,781 (GRCm39) |
F39L |
possibly damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,730,583 (GRCm39) |
S183P |
probably damaging |
Het |
| Dicer1 |
T |
A |
12: 104,681,165 (GRCm39) |
R449S |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,956,534 (GRCm39) |
I736T |
probably benign |
Het |
| Eny2 |
T |
A |
15: 44,292,984 (GRCm39) |
M12K |
possibly damaging |
Het |
| Fbxl21 |
C |
T |
13: 56,684,942 (GRCm39) |
R349C |
probably benign |
Het |
| Gstm2 |
A |
G |
3: 107,893,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Gucy2g |
G |
A |
19: 55,194,609 (GRCm39) |
T936M |
possibly damaging |
Het |
| Mbp |
G |
T |
18: 82,572,740 (GRCm39) |
K12N |
probably damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,748,678 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
T |
C |
5: 52,907,947 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,113,325 (GRCm39) |
F1504L |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,111 (GRCm39) |
W239R |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,295,560 (GRCm39) |
S1043T |
unknown |
Het |
| Tgfbrap1 |
T |
C |
1: 43,106,780 (GRCm39) |
I298V |
probably benign |
Het |
| Tmem190 |
T |
A |
7: 4,786,157 (GRCm39) |
D20E |
probably benign |
Het |
| Tph2 |
A |
T |
10: 114,915,950 (GRCm39) |
C408S |
probably benign |
Het |
| Trmt44 |
A |
C |
5: 35,728,396 (GRCm39) |
Y295D |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,415,905 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,880,463 (GRCm39) |
E134G |
probably damaging |
Het |
|
| Other mutations in Nr2f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Nr2f2
|
APN |
7 |
70,007,514 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01736:Nr2f2
|
APN |
7 |
70,004,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Nr2f2
|
UTSW |
7 |
70,007,810 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0206:Nr2f2
|
UTSW |
7 |
70,009,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0207:Nr2f2
|
UTSW |
7 |
70,009,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0240:Nr2f2
|
UTSW |
7 |
70,009,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0243:Nr2f2
|
UTSW |
7 |
70,009,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0361:Nr2f2
|
UTSW |
7 |
70,007,810 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0540:Nr2f2
|
UTSW |
7 |
70,004,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Nr2f2
|
UTSW |
7 |
70,004,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Nr2f2
|
UTSW |
7 |
70,007,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Nr2f2
|
UTSW |
7 |
70,004,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1961:Nr2f2
|
UTSW |
7 |
70,007,903 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3033:Nr2f2
|
UTSW |
7 |
70,007,810 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3754:Nr2f2
|
UTSW |
7 |
70,007,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4517:Nr2f2
|
UTSW |
7 |
70,007,870 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6175:Nr2f2
|
UTSW |
7 |
70,007,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Nr2f2
|
UTSW |
7 |
70,009,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7544:Nr2f2
|
UTSW |
7 |
70,004,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Nr2f2
|
UTSW |
7 |
70,007,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7894:Nr2f2
|
UTSW |
7 |
70,009,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Nr2f2
|
UTSW |
7 |
70,007,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9411:Nr2f2
|
UTSW |
7 |
70,007,525 (GRCm39) |
missense |
|
|
|
R9513:Nr2f2
|
UTSW |
7 |
70,010,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Nr2f2
|
UTSW |
7 |
70,007,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation