Incidental Mutation 'R2284:Nr2f1'
| ID |
243259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr2f1
|
| Ensembl Gene |
ENSMUSG00000069171 |
| Gene Name |
nuclear receptor subfamily 2, group F, member 1 |
| Synonyms |
Tcfcoup1, COUP-TF1, COUP-TFI, Erbal3 |
| MMRRC Submission |
040283-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2284 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
78337090-78346954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78343581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 81
(V81F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091458]
[ENSMUST00000125176]
[ENSMUST00000127137]
[ENSMUST00000150498]
[ENSMUST00000224798]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091458
AA Change: V228F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171
AA Change: V228F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
ZnF_C4
|
80 |
151 |
3.01e-39 |
SMART |
|
HOLI
|
218 |
378 |
5.16e-47 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125176
AA Change: V81F
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171
AA Change: V81F
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
71 |
231 |
5.16e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127137
AA Change: V71F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171
AA Change: V71F
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
61 |
221 |
5.16e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145613
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150498
AA Change: V71F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171
AA Change: V71F
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
61 |
221 |
5.16e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224798
AA Change: V81F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.8385 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for a null allele die perinatally with axon guidance defects in all forebrain commissures. Homozygotes for another null allele show neonatal death, impaired cranial ganglion IX formation and axon guidance, increased cochlear HC and support cell number, and altered cortex regionalization. [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 |
|---|
| Adipoq |
C |
T |
16: 22,976,237 (GRCm39) |
Q213* |
probably null |
Het |
| Adsl |
C |
T |
15: 80,848,096 (GRCm39) |
P278L |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,085,678 (GRCm39) |
S187P |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,444,099 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,491,193 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
A |
10: 99,594,321 (GRCm39) |
D248V |
possibly damaging |
Het |
| Dip2a |
A |
C |
10: 76,149,027 (GRCm39) |
V247G |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,186 (GRCm39) |
D2509G |
probably damaging |
Het |
| Gldn |
G |
A |
9: 54,193,849 (GRCm39) |
W14* |
probably null |
Het |
| Gm5698 |
C |
T |
1: 31,016,964 (GRCm39) |
R29Q |
possibly damaging |
Het |
| Gm5830 |
A |
T |
1: 78,945,415 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,025 (GRCm39) |
D761G |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,011,607 (GRCm39) |
Q159R |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,618,648 (GRCm39) |
Y118C |
probably damaging |
Het |
| Iho1 |
C |
T |
9: 108,298,672 (GRCm39) |
E49K |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,575,344 (GRCm39) |
H127R |
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,081 (GRCm39) |
Q95* |
probably null |
Het |
| Map2 |
C |
T |
1: 66,453,227 (GRCm39) |
P548S |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,674 (GRCm39) |
V1120A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,837 (GRCm39) |
T2279A |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,047,110 (GRCm39) |
S1084P |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,477,135 (GRCm39) |
N803K |
probably damaging |
Het |
| Or5l14 |
A |
G |
2: 87,793,137 (GRCm39) |
L33P |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,510 (GRCm39) |
H375R |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,555,109 (GRCm39) |
V200I |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,681 (GRCm39) |
I296T |
probably benign |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,600 (GRCm39) |
H288L |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,765 (GRCm39) |
N88K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,666 (GRCm39) |
T511A |
probably benign |
Het |
|
| Other mutations in Nr2f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Nr2f1
|
APN |
13 |
78,337,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00553:Nr2f1
|
APN |
13 |
78,346,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Nr2f1
|
APN |
13 |
78,346,233 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02346:Nr2f1
|
APN |
13 |
78,343,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02586:Nr2f1
|
APN |
13 |
78,343,275 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02587:Nr2f1
|
APN |
13 |
78,343,275 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02588:Nr2f1
|
APN |
13 |
78,343,275 (GRCm39) |
unclassified |
probably benign |
|
|
R1470:Nr2f1
|
UTSW |
13 |
78,346,284 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1470:Nr2f1
|
UTSW |
13 |
78,346,284 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1865:Nr2f1
|
UTSW |
13 |
78,338,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Nr2f1
|
UTSW |
13 |
78,337,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Nr2f1
|
UTSW |
13 |
78,343,794 (GRCm39) |
nonsense |
probably null |
|
|
R4542:Nr2f1
|
UTSW |
13 |
78,337,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Nr2f1
|
UTSW |
13 |
78,344,611 (GRCm39) |
intron |
probably benign |
|
|
R6285:Nr2f1
|
UTSW |
13 |
78,343,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7305:Nr2f1
|
UTSW |
13 |
78,343,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Nr2f1
|
UTSW |
13 |
78,343,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Nr2f1
|
UTSW |
13 |
78,343,716 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7884:Nr2f1
|
UTSW |
13 |
78,337,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7954:Nr2f1
|
UTSW |
13 |
78,338,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Nr2f1
|
UTSW |
13 |
78,343,565 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8875:Nr2f1
|
UTSW |
13 |
78,337,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8959:Nr2f1
|
UTSW |
13 |
78,337,873 (GRCm39) |
nonsense |
probably null |
|
|
R9115:Nr2f1
|
UTSW |
13 |
78,337,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGAAAGATGCGGATGTGG -3'
(R):5'- TGCACTCACAAACGGGGATC -3'
Sequencing Primer
(F):5'- GATGTGGTCCATGAAGGCC -3'
(R):5'- CAAACGGGGATCCTCTCAATGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation