Incidental Mutation 'R0741:Nr2f2'
| ID |
70686 |
| 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 |
038922-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
70001692-70016483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70007745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 113
(R113C)
|
| 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: R246C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: R246C
| 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: R113C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: R113C
| 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: R93C
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208681
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
T |
A |
1: 93,329,309 (GRCm39) |
I701N |
probably damaging |
Het |
| Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
| Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
| Caskin2 |
A |
G |
11: 115,695,626 (GRCm39) |
V245A |
probably damaging |
Het |
| Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,184,019 (GRCm39) |
D301V |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
| Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,790,141 (GRCm39) |
T141A |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,739 (GRCm39) |
I187N |
possibly damaging |
Het |
| Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
| Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,082,940 (GRCm39) |
E79* |
probably null |
Het |
| Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
| Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
| Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
| Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
| Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Skap1 |
A |
C |
11: 96,383,759 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
| Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
| Vgll1 |
A |
T |
X: 56,141,644 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGAGGTGAACAGGACTATGGC -3'
(R):5'- GCGGGACCAAGGCTGATCATTAAC -3'
Sequencing Primer
(F):5'- TTGAGGCAGCTATACTCGGC -3'
(R):5'- AGTTTGCCCTGACCAACG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation