Incidental Mutation 'IGL00672:Nr2f2'
| ID |
12776 |
| 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 # |
IGL00672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
70001692-70016483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70007514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 170
(S170P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032768]
[ENSMUST00000089565]
[ENSMUST00000208081]
|
| AlphaFold |
P43135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032768
AA Change: S323P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: S323P
| 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 benign
Transcript: ENSMUST00000089565
AA Change: S190P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: S190P
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
81 |
241 |
5.2e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207153
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208081
AA Change: S170P
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,657,736 (GRCm39) |
|
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,238,986 (GRCm39) |
I744T |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,748,781 (GRCm39) |
A1202V |
probably damaging |
Het |
| C130032M10Rik |
A |
G |
9: 114,344,898 (GRCm39) |
V340A |
probably damaging |
Het |
| Csnk1g1 |
G |
T |
9: 65,915,028 (GRCm39) |
S229I |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,697 (GRCm39) |
S410G |
probably benign |
Het |
| Eif2s2 |
T |
A |
2: 154,729,629 (GRCm39) |
I98L |
probably benign |
Het |
| En1 |
T |
C |
1: 120,534,667 (GRCm39) |
F319L |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,562 (GRCm39) |
Y345N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,907,309 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
A |
G |
4: 96,637,419 (GRCm39) |
L366P |
probably damaging |
Het |
| Golga3 |
T |
C |
5: 110,360,110 (GRCm39) |
L1156S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,372,468 (GRCm39) |
|
probably benign |
Het |
| Hvcn1 |
C |
A |
5: 122,376,534 (GRCm39) |
F155L |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,674,835 (GRCm39) |
S866P |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,261,751 (GRCm39) |
N642S |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,443 (GRCm39) |
I2V |
probably benign |
Het |
| Klri2 |
T |
A |
6: 129,710,034 (GRCm39) |
I189F |
probably damaging |
Het |
| Lair1 |
T |
A |
7: 4,031,730 (GRCm39) |
T126S |
probably benign |
Het |
| Lins1 |
A |
T |
7: 66,364,279 (GRCm39) |
K725* |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,477,915 (GRCm39) |
|
probably null |
Het |
| Map3k10 |
T |
C |
7: 27,361,026 (GRCm39) |
K496E |
probably damaging |
Het |
| Polr1b |
G |
A |
2: 128,967,392 (GRCm39) |
M928I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,709,310 (GRCm39) |
P38S |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,434 (GRCm39) |
S802G |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,619,026 (GRCm39) |
E518G |
probably benign |
Het |
| Smdt1 |
G |
A |
15: 82,230,384 (GRCm39) |
V34I |
possibly damaging |
Het |
| Ssr3 |
C |
A |
3: 65,298,831 (GRCm39) |
A59S |
probably benign |
Het |
| Stk4 |
A |
G |
2: 163,959,999 (GRCm39) |
K59E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Taf5 |
A |
T |
19: 47,070,740 (GRCm39) |
D723V |
probably damaging |
Het |
| Tescl |
T |
C |
7: 24,033,035 (GRCm39) |
T97A |
probably benign |
Het |
| Thada |
A |
T |
17: 84,751,646 (GRCm39) |
S443R |
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,268,541 (GRCm39) |
H205L |
probably benign |
Het |
| Ube4b |
A |
G |
4: 149,465,823 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp957 |
G |
T |
14: 79,450,838 (GRCm39) |
D320E |
unknown |
Het |
| Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
probably damaging |
Het |
| Zmpste24 |
A |
G |
4: 120,923,057 (GRCm39) |
I386T |
probably damaging |
Het |
|
| Other mutations in Nr2f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Nr2f2
|
APN |
7 |
70,004,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02667:Nr2f2
|
APN |
7 |
70,007,733 (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 |
2012-12-06 |
Incidental Mutation