Incidental Mutation 'R5482:Nr2f6'
| ID |
434390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr2f6
|
| Ensembl Gene |
ENSMUSG00000002393 |
| Gene Name |
nuclear receptor subfamily 2, group F, member 6 |
| Synonyms |
EAR2, Erbal2, COUP-TF3 |
| MMRRC Submission |
043043-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5482 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71826762-71834593 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71827182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 373
(I373N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002466]
[ENSMUST00000002469]
[ENSMUST00000019169]
[ENSMUST00000110051]
[ENSMUST00000110052]
[ENSMUST00000110053]
[ENSMUST00000110054]
[ENSMUST00000137058]
|
| AlphaFold |
P43136 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002466
AA Change: I373N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393
AA Change: I373N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
ZnF_C4
|
54 |
125 |
1.48e-38 |
SMART |
|
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
|
HOLI
|
191 |
351 |
1.07e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002469
|
| SMART Domains |
Protein: ENSMUSP00000002469
Gene: ENSMUSG00000002396
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
62 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
106 |
207 |
8.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019169
|
| SMART Domains |
Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Use1
|
15 |
266 |
9.7e-110 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110051
|
| SMART Domains |
Protein: ENSMUSP00000105678
Gene: ENSMUSG00000002396
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110052
|
| SMART Domains |
Protein: ENSMUSP00000105679
Gene: ENSMUSG00000002396
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110053
|
| SMART Domains |
Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Use1
|
30 |
280 |
4.6e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110054
|
| SMART Domains |
Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Use1
|
15 |
266 |
9.7e-110 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154550
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124732
|
| SMART Domains |
Protein: ENSMUSP00000116498
Gene: ENSMUSG00000002393
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
38 |
80 |
4.35e-4 |
SMART |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
HOLI
|
146 |
254 |
2.72e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137058
|
| SMART Domains |
Protein: ENSMUSP00000121648
Gene: ENSMUSG00000002393
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
62 |
N/A |
INTRINSIC |
|
ZnF_C4
|
76 |
118 |
4.35e-4 |
SMART |
|
Pfam:Hormone_recep
|
175 |
270 |
9.4e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.9551 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.6%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial agenesis of the locus coeruleus, increased thermal nociception, and defective circadian behavior including a delayed entrainment to shifted light-dark cycles and reduced anticipatory locomotor activity in restricted feeding experiments. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230109A22Rik |
T |
C |
15: 25,139,036 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
T |
C |
7: 119,968,370 (GRCm39) |
L801P |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,984,613 (GRCm39) |
D212G |
probably benign |
Het |
| Acsl6 |
G |
A |
11: 54,217,964 (GRCm39) |
D166N |
probably damaging |
Het |
| Acy1 |
T |
C |
9: 106,311,838 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,942,360 (GRCm39) |
N1368S |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,375,600 (GRCm39) |
I344T |
probably benign |
Het |
| Aplp1 |
A |
G |
7: 30,139,600 (GRCm39) |
F399S |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,727 (GRCm39) |
S1302P |
possibly damaging |
Het |
| Bik |
T |
G |
15: 83,428,335 (GRCm39) |
V121G |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,948,777 (GRCm39) |
M3069L |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,969,685 (GRCm39) |
T4237A |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,670,557 (GRCm39) |
N59D |
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,884,496 (GRCm39) |
S328G |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,838 (GRCm39) |
G1067R |
probably benign |
Het |
| Cryl1 |
A |
T |
14: 57,550,469 (GRCm39) |
F132I |
probably damaging |
Het |
| Dipk1a |
C |
G |
5: 108,057,529 (GRCm39) |
C343S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,019,521 (GRCm39) |
E3865K |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,855,937 (GRCm39) |
R741* |
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,815,654 (GRCm39) |
L3796F |
possibly damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5535 |
C |
A |
2: 144,016,492 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
T |
6: 86,695,055 (GRCm39) |
M202K |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,965,360 (GRCm39) |
M489L |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,418 (GRCm39) |
I254T |
probably benign |
Het |
| Lrrn3 |
G |
A |
12: 41,502,386 (GRCm39) |
L644F |
probably benign |
Het |
| Lrrn3 |
A |
C |
12: 41,502,387 (GRCm39) |
C643W |
probably damaging |
Het |
| Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,269 (GRCm39) |
T135A |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,308,947 (GRCm39) |
Y129H |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,657,802 (GRCm39) |
I1043F |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,523,154 (GRCm39) |
T302I |
probably damaging |
Het |
| Pcdhgb5 |
A |
G |
18: 37,864,585 (GRCm39) |
N127D |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,474,435 (GRCm39) |
F876L |
probably benign |
Het |
| Pip5k1c |
A |
G |
10: 81,128,897 (GRCm39) |
E2G |
probably damaging |
Het |
| Ppp1r18 |
G |
A |
17: 36,184,771 (GRCm39) |
E141K |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,168,563 (GRCm39) |
Y247* |
probably null |
Het |
| Ripply2 |
A |
G |
9: 86,897,620 (GRCm39) |
E8G |
possibly damaging |
Het |
| Rufy3 |
TAAGCA |
TA |
5: 88,785,191 (GRCm39) |
|
probably null |
Het |
| Skint2 |
T |
G |
4: 112,483,076 (GRCm39) |
C160W |
probably damaging |
Het |
| Sun2 |
C |
T |
15: 79,621,712 (GRCm39) |
R172Q |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,028 (GRCm39) |
L307P |
possibly damaging |
Het |
| Tlcd3b |
A |
G |
7: 126,426,660 (GRCm39) |
T78A |
possibly damaging |
Het |
| Trappc12 |
T |
C |
12: 28,741,324 (GRCm39) |
K795R |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,979,203 (GRCm39) |
M269L |
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,642,418 (GRCm39) |
S638P |
probably damaging |
Het |
| Usp2 |
G |
A |
9: 44,000,480 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,285 (GRCm39) |
E620V |
possibly damaging |
Het |
| Wdr36 |
A |
T |
18: 32,974,957 (GRCm39) |
H103L |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,423,392 (GRCm39) |
T78A |
probably benign |
Het |
| Zc2hc1b |
C |
T |
10: 13,029,270 (GRCm39) |
R146Q |
probably damaging |
Het |
|
| Other mutations in Nr2f6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Nr2f6
|
APN |
8 |
71,828,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Nr2f6
|
APN |
8 |
71,827,156 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2679:Nr2f6
|
UTSW |
8 |
71,827,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Nr2f6
|
UTSW |
8 |
71,828,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4745:Nr2f6
|
UTSW |
8 |
71,831,179 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7781:Nr2f6
|
UTSW |
8 |
71,828,595 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9237:Nr2f6
|
UTSW |
8 |
71,831,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Nr2f6
|
UTSW |
8 |
71,827,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nr2f6
|
UTSW |
8 |
71,828,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGTCTGCCAGGACAAG -3'
(R):5'- TTTCTGACCCAGCCCATGTG -3'
Sequencing Primer
(F):5'- CCTGGGAGATCCAAATCTTTTTG -3'
(R):5'- CATGTGGAGAGCCTGCAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation