Incidental Mutation 'R4517:Nr2f2'
ID |
332948 |
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 |
041761-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4517 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
70001692-70016483 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 70007870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 204
(N204T)
|
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: N204T
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000032768 Gene: ENSMUSG00000030551 AA Change: N204T
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: N71T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000086993 Gene: ENSMUSG00000030551 AA Change: N71T
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: N51T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208474
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208681
|
Meta Mutation Damage Score |
0.0953 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
95% (39/41) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank |
A |
G |
15: 27,562,835 (GRCm39) |
H181R |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,635 (GRCm39) |
K408E |
probably damaging |
Het |
Cd209a |
T |
A |
8: 3,795,525 (GRCm39) |
D123V |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,850,566 (GRCm39) |
I340V |
probably benign |
Het |
Echs1 |
A |
G |
7: 139,692,409 (GRCm39) |
S113P |
possibly damaging |
Het |
Fap |
T |
C |
2: 62,361,059 (GRCm39) |
I391V |
probably benign |
Het |
Glb1l |
C |
T |
1: 75,185,347 (GRCm39) |
C121Y |
probably damaging |
Het |
Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
Ibsp |
C |
A |
5: 104,453,863 (GRCm39) |
S67* |
probably null |
Het |
Ifit1bl2 |
C |
T |
19: 34,607,164 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,800,569 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
A |
G |
14: 23,387,097 (GRCm39) |
S982P |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,213,272 (GRCm39) |
S707G |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,589,323 (GRCm39) |
I437V |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,855,545 (GRCm39) |
|
probably benign |
Het |
Mcu |
T |
C |
10: 59,303,456 (GRCm39) |
Y127C |
probably damaging |
Het |
Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
Or13a26 |
A |
G |
7: 140,285,004 (GRCm39) |
Y280C |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,877 (GRCm39) |
Y279* |
probably null |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pcf11 |
T |
C |
7: 92,295,696 (GRCm39) |
Y1451C |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,047,097 (GRCm39) |
S920P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Tas2r135 |
A |
T |
6: 42,383,013 (GRCm39) |
H184L |
probably benign |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,969,683 (GRCm39) |
V259A |
probably damaging |
Het |
Whrn |
A |
G |
4: 63,379,517 (GRCm39) |
|
probably null |
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 |
R3754:Nr2f2
|
UTSW |
7 |
70,007,769 (GRCm39) |
missense |
probably benign |
0.01 |
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'- ATGTGGTCCATAAAAGCGACC -3'
(R):5'- TCCTGCAGCTGTACAGAGAG -3'
Sequencing Primer
(F):5'- CTGACATGGGTGAAGCGTGC -3'
(R):5'- CTGTACAGAGAGGCAGGATGC -3'
|
Posted On |
2015-08-18 |