Incidental Mutation 'R3033:Nr2f2'
| ID |
263344 |
| 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 |
| MMRRC Submission |
040549-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
70001692-70016483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70007810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 71
(V71A)
|
| 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: V224A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: V224A
| 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: V91A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: V91A
| 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: V71A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208681
|
| Meta Mutation Damage Score |
0.8864 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,184,227 (GRCm39) |
D591G |
probably benign |
Het |
| Aqp4 |
T |
A |
18: 15,526,617 (GRCm39) |
E288V |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,562,943 (GRCm39) |
Y894C |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Dennd4c |
AGGAGCTCCTGGAGC |
AGGAGC |
4: 86,743,557 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,333 (GRCm39) |
D810G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,191,366 (GRCm39) |
I222T |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,830,721 (GRCm39) |
T159S |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,219,734 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,044 (GRCm39) |
E461G |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,997,821 (GRCm39) |
C359* |
probably null |
Het |
| Ift88 |
G |
A |
14: 57,715,501 (GRCm39) |
D515N |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,160 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
C |
11: 58,275,453 (GRCm39) |
Y63H |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,878,992 (GRCm39) |
Y594N |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,568,966 (GRCm39) |
M322V |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,975 (GRCm39) |
E129G |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,981,613 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
T |
C |
3: 94,845,351 (GRCm39) |
V149A |
probably benign |
Het |
| Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,912 (GRCm39) |
D555G |
probably damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,388 (GRCm39) |
G55D |
probably damaging |
Het |
| Tpte |
T |
A |
8: 22,810,888 (GRCm39) |
S182T |
possibly damaging |
Het |
| Zfp58 |
T |
C |
13: 67,639,741 (GRCm39) |
E250G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTATGTGGTCCATAAAAGCG -3'
(R):5'- TCCTGCAGCTGTACAGAGAG -3'
Sequencing Primer
(F):5'- GTGGTCCATAAAAGCGACCAC -3'
(R):5'- AGTTTGCCCTGACCAACG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation