Incidental Mutation 'IGL00898:Nr2e1'
| ID |
28297 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr2e1
|
| Ensembl Gene |
ENSMUSG00000019803 |
| Gene Name |
nuclear receptor subfamily 2, group E, member 1 |
| Synonyms |
tailless, Mtll, Tlx, Nr2e1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
IGL00898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
42437959-42459628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42444449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 220
(D220V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019938]
[ENSMUST00000105498]
|
| AlphaFold |
Q64104 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019938
AA Change: D220V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: D220V
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
13 |
86 |
2.04e-36 |
SMART |
|
HOLI
|
187 |
354 |
1.42e-35 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105498
AA Change: D8V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: D8V
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
3 |
142 |
2.56e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126848
|
| SMART Domains |
Protein: ENSMUSP00000116439
Gene: ENSMUSG00000019803
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
9 |
82 |
2.04e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143891
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes have small brains, hypoplasia of cerebrum and olfactory lobes, thin optic layers, reduced retinal vessels and hydrocephaly on some genetic backgrounds. Mutants do poorly in sensorimotor tests, are aggressive and females lack maternal behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,783,690 (GRCm39) |
G956S |
probably damaging |
Het |
| Alpk2 |
G |
T |
18: 65,483,644 (GRCm39) |
D121E |
probably benign |
Het |
| Apc |
A |
G |
18: 34,450,147 (GRCm39) |
T2314A |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,636,810 (GRCm39) |
L990P |
probably damaging |
Het |
| Ccar1 |
T |
A |
10: 62,589,013 (GRCm39) |
K823N |
unknown |
Het |
| Celsr2 |
C |
T |
3: 108,321,195 (GRCm39) |
R539H |
possibly damaging |
Het |
| Clca3b |
A |
G |
3: 144,550,389 (GRCm39) |
|
probably benign |
Het |
| Cpxcr1 |
T |
C |
X: 115,387,407 (GRCm39) |
L106S |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,607,755 (GRCm39) |
L16Q |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,941 (GRCm39) |
E808G |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 59,595,904 (GRCm39) |
|
probably null |
Het |
| Epha7 |
G |
A |
4: 28,938,693 (GRCm39) |
R516Q |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,152,774 (GRCm39) |
S1077P |
probably benign |
Het |
| Gm4952 |
C |
T |
19: 12,595,772 (GRCm39) |
T54I |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Il1b |
T |
C |
2: 129,209,253 (GRCm39) |
R126G |
possibly damaging |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,021,191 (GRCm39) |
T923S |
possibly damaging |
Het |
| Lrp6 |
C |
T |
6: 134,456,702 (GRCm39) |
S854N |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,058,031 (GRCm39) |
F258L |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,306,159 (GRCm39) |
S91P |
probably benign |
Het |
| Msra |
A |
G |
14: 64,360,774 (GRCm39) |
I125T |
probably damaging |
Het |
| Nr0b1 |
A |
T |
X: 85,236,077 (GRCm39) |
Q224L |
probably benign |
Het |
| Nup160 |
C |
A |
2: 90,523,450 (GRCm39) |
H351Q |
probably damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,282 (GRCm39) |
M220L |
probably benign |
Het |
| Pcdh12 |
C |
A |
18: 38,414,510 (GRCm39) |
V872L |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,614,324 (GRCm39) |
S376C |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,631,001 (GRCm39) |
E475G |
probably damaging |
Het |
| Psg22 |
A |
G |
7: 18,458,392 (GRCm39) |
Y322C |
probably damaging |
Het |
| Rgl2 |
T |
C |
17: 34,152,392 (GRCm39) |
I363T |
possibly damaging |
Het |
| Rimklb |
G |
T |
6: 122,433,590 (GRCm39) |
Q187K |
possibly damaging |
Het |
| Sectm1b |
A |
T |
11: 120,947,075 (GRCm39) |
W17R |
probably damaging |
Het |
| Snu13 |
C |
A |
15: 81,926,516 (GRCm39) |
A60S |
probably benign |
Het |
| Sox30 |
T |
A |
11: 45,882,727 (GRCm39) |
F586I |
possibly damaging |
Het |
| Tnfsfm13 |
C |
A |
11: 69,575,127 (GRCm39) |
V220L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,593,117 (GRCm39) |
V20711E |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,604,969 (GRCm39) |
N94S |
possibly damaging |
Het |
| Yipf2 |
T |
C |
9: 21,503,820 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,765,999 (GRCm39) |
S1509P |
probably benign |
Het |
|
| Other mutations in Nr2e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Nr2e1
|
APN |
10 |
42,443,969 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02272:Nr2e1
|
APN |
10 |
42,443,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03092:Nr2e1
|
APN |
10 |
42,447,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03405:Nr2e1
|
APN |
10 |
42,444,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dubious
|
UTSW |
10 |
42,447,483 (GRCm39) |
nonsense |
probably null |
|
|
BB010:Nr2e1
|
UTSW |
10 |
42,439,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Nr2e1
|
UTSW |
10 |
42,439,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Nr2e1
|
UTSW |
10 |
42,443,964 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1807:Nr2e1
|
UTSW |
10 |
42,458,905 (GRCm39) |
splice site |
probably null |
|
|
R1879:Nr2e1
|
UTSW |
10 |
42,444,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1944:Nr2e1
|
UTSW |
10 |
42,448,774 (GRCm39) |
missense |
probably benign |
|
|
R2426:Nr2e1
|
UTSW |
10 |
42,439,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Nr2e1
|
UTSW |
10 |
42,444,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4515:Nr2e1
|
UTSW |
10 |
42,454,187 (GRCm39) |
missense |
probably benign |
|
|
R5305:Nr2e1
|
UTSW |
10 |
42,447,483 (GRCm39) |
nonsense |
probably null |
|
|
R5316:Nr2e1
|
UTSW |
10 |
42,447,487 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5325:Nr2e1
|
UTSW |
10 |
42,448,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Nr2e1
|
UTSW |
10 |
42,448,765 (GRCm39) |
missense |
probably benign |
|
|
R7040:Nr2e1
|
UTSW |
10 |
42,444,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7593:Nr2e1
|
UTSW |
10 |
42,439,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7765:Nr2e1
|
UTSW |
10 |
42,450,433 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7933:Nr2e1
|
UTSW |
10 |
42,439,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Nr2e1
|
UTSW |
10 |
42,458,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8342:Nr2e1
|
UTSW |
10 |
42,444,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:Nr2e1
|
UTSW |
10 |
42,443,864 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9145:Nr2e1
|
UTSW |
10 |
42,448,948 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9189:Nr2e1
|
UTSW |
10 |
42,454,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Nr2e1
|
UTSW |
10 |
42,439,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Nr2e1
|
UTSW |
10 |
42,447,487 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9552:Nr2e1
|
UTSW |
10 |
42,447,487 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Nr2e1
|
UTSW |
10 |
42,444,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation