Incidental Mutation 'IGL01736:Nr2f2'
| ID |
105715 |
| 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 # |
IGL01736
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
70001692-70016483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70004446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 269
(S269P)
|
| 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: S402P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: S402P
| 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: S269P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: S269P
| 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
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,326,503 (GRCm39) |
T290A |
possibly damaging |
Het |
| Apip |
G |
A |
2: 102,917,486 (GRCm39) |
V62M |
probably damaging |
Het |
| Appbp2 |
T |
C |
11: 85,105,143 (GRCm39) |
K141R |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,501,624 (GRCm39) |
|
probably benign |
Het |
| B3galt2 |
A |
G |
1: 143,522,583 (GRCm39) |
T240A |
probably benign |
Het |
| Bivm |
A |
T |
1: 44,180,973 (GRCm39) |
N385I |
probably damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,649 (GRCm39) |
|
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,789 (GRCm39) |
D352G |
possibly damaging |
Het |
| Ceacam10 |
A |
G |
7: 24,480,535 (GRCm39) |
Y102C |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,156,282 (GRCm39) |
D677G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,226,536 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
C |
T |
6: 73,165,360 (GRCm39) |
V582M |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,521,552 (GRCm39) |
L541P |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,391,444 (GRCm39) |
T384A |
possibly damaging |
Het |
| Gdpd3 |
T |
C |
7: 126,365,695 (GRCm39) |
L18P |
probably damaging |
Het |
| Grxcr2 |
T |
A |
18: 42,132,047 (GRCm39) |
K7N |
probably damaging |
Het |
| Gulo |
A |
G |
14: 66,234,325 (GRCm39) |
F246L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
| Ints4 |
C |
T |
7: 97,175,849 (GRCm39) |
L647F |
probably benign |
Het |
| Kif17 |
T |
A |
4: 138,013,876 (GRCm39) |
L264Q |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,843,948 (GRCm39) |
N1104S |
possibly damaging |
Het |
| Ly6e |
T |
G |
15: 74,830,546 (GRCm39) |
L132R |
probably benign |
Het |
| Mis18bp1 |
T |
A |
12: 65,185,452 (GRCm39) |
H905L |
probably damaging |
Het |
| Or2b2b |
C |
A |
13: 21,858,787 (GRCm39) |
C109F |
probably benign |
Het |
| Or2o1 |
G |
A |
11: 49,051,354 (GRCm39) |
C171Y |
probably damaging |
Het |
| Or5d46 |
T |
A |
2: 88,170,771 (GRCm39) |
N287K |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,166,910 (GRCm39) |
I757V |
probably damaging |
Het |
| Psg23 |
A |
T |
7: 18,346,122 (GRCm39) |
I191N |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,672,475 (GRCm39) |
|
probably null |
Het |
| Snph |
A |
T |
2: 151,436,093 (GRCm39) |
Y209* |
probably null |
Het |
| Tnfaip3 |
T |
C |
10: 18,882,649 (GRCm39) |
H256R |
probably damaging |
Het |
| Tnip3 |
T |
A |
6: 65,573,107 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,243,386 (GRCm39) |
F1130Y |
probably damaging |
Het |
| Twnk |
T |
G |
19: 44,998,627 (GRCm39) |
V515G |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,280,658 (GRCm39) |
I2324K |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,238,827 (GRCm39) |
F305S |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,735 (GRCm39) |
Q567L |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,818,523 (GRCm39) |
I649K |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,358,204 (GRCm39) |
Y683C |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,309,152 (GRCm39) |
M793L |
possibly damaging |
Het |
| Zmym6 |
T |
G |
4: 127,002,437 (GRCm39) |
I556R |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,764,780 (GRCm39) |
P717S |
probably benign |
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 |
|
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 |
2014-01-21 |
Incidental Mutation