Incidental Mutation 'R3754:Nr2f2'
| ID |
271351 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3754 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
70001692-70016483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70007769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 238
(I238V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032768]
[ENSMUST00000089565]
[ENSMUST00000208081]
|
| AlphaFold |
P43135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032768
AA Change: I238V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: I238V
| 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: I105V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: I105V
| 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: I85V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208681
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,956,766 (GRCm39) |
|
probably null |
Het |
| Atp12a |
G |
A |
14: 56,610,045 (GRCm39) |
V182I |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,571,352 (GRCm39) |
D430V |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,805,264 (GRCm39) |
E1002G |
probably damaging |
Het |
| Itpkc |
G |
T |
7: 26,927,857 (GRCm39) |
P19Q |
probably damaging |
Het |
| Lrrc72 |
A |
G |
12: 36,262,567 (GRCm39) |
S42P |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,057,548 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myef2l |
G |
A |
3: 10,153,575 (GRCm39) |
V115I |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,191,917 (GRCm39) |
N164K |
probably damaging |
Het |
| Neurod2 |
A |
G |
11: 98,218,526 (GRCm39) |
S213P |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,391,782 (GRCm39) |
N179D |
probably damaging |
Het |
| Rpl37 |
C |
A |
15: 5,146,770 (GRCm39) |
T2K |
possibly damaging |
Het |
| Slf2 |
A |
G |
19: 44,961,676 (GRCm39) |
D1065G |
probably benign |
Het |
| Smim5 |
T |
C |
11: 115,796,549 (GRCm39) |
C57R |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,065,513 (GRCm39) |
V236D |
probably damaging |
Het |
| Teddm3 |
C |
T |
16: 20,971,898 (GRCm39) |
D224N |
possibly damaging |
Het |
| Tm2d2 |
G |
A |
8: 25,510,494 (GRCm39) |
V118I |
probably damaging |
Het |
| Ttc22 |
C |
A |
4: 106,496,278 (GRCm39) |
R443S |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,792,464 (GRCm39) |
I368T |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,849,841 (GRCm39) |
D129Y |
probably damaging |
Het |
| Zfp109 |
A |
G |
7: 23,929,181 (GRCm39) |
M76T |
probably benign |
Het |
| Znrf1 |
G |
A |
8: 112,345,843 (GRCm39) |
V76M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGAGGCAGCTATACTCG -3'
(R):5'- GGATATATTTCCCTGCTGCTGC -3'
Sequencing Primer
(F):5'- ACTTGCTCTTGGAAGATCCG -3'
(R):5'- GGGCATCGAGAACATTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation