Incidental Mutation 'BB010:Nr2e1'
| ID |
642588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr2e1
|
| Ensembl Gene |
ENSMUSG00000019803 |
| Gene Name |
nuclear receptor subfamily 2, group E, member 1 |
| Synonyms |
Mtll, Tlx, tailless, Nr2e1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
BB010
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
42561963-42583632 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42563383 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 380
(Y380C)
|
| 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: Y380C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: Y380C
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
13 |
86 |
2.04e-36 |
SMART |
|
HOLI
|
187 |
354 |
1.42e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105498
AA Change: Y168C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: Y168C
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
3 |
142 |
2.56e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
A |
G |
13: 59,743,751 |
L85P |
probably damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,942,400 |
V125A |
unknown |
Het |
| Adam34 |
T |
A |
8: 43,650,874 |
H578L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,507,018 |
M678K |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,995,066 |
L1150P |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,083,757 |
E279K |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,945,490 |
D695G |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,056,055 |
K400* |
probably null |
Het |
| Cpsf4 |
T |
A |
5: 145,167,358 |
M1K |
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,766,115 |
Q992L |
probably benign |
Het |
| Dnajc7 |
T |
C |
11: 100,596,212 |
Y145C |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,844,020 |
D892E |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,466,195 |
K23E |
possibly damaging |
Het |
| Fam214b |
A |
T |
4: 43,035,919 |
C271S |
probably benign |
Het |
| Filip1 |
T |
G |
9: 79,820,047 |
K430T |
possibly damaging |
Het |
| Gm5089 |
T |
C |
14: 122,435,991 |
D106G |
unknown |
Het |
| Hip1 |
A |
T |
5: 135,460,456 |
N45K |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,127,837 |
S60P |
probably damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,158,409 |
C115* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,409,651 |
T353A |
probably benign |
Het |
| Mast3 |
A |
T |
8: 70,786,635 |
V433E |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,772,563 |
M660K |
probably damaging |
Het |
| Olfr1465 |
T |
A |
19: 13,314,205 |
M27L |
probably benign |
Het |
| Olfr980 |
T |
C |
9: 40,007,135 |
|
probably benign |
Het |
| Otog |
A |
G |
7: 46,310,147 |
D720G |
probably damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,311,898 |
W473R |
probably damaging |
Het |
| Smpd3 |
A |
C |
8: 106,255,622 |
C617G |
probably benign |
Het |
| Sprr3 |
T |
C |
3: 92,457,208 |
I110V |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,636,144 |
E326G |
probably benign |
Het |
| Tapbpl |
T |
G |
6: 125,230,270 |
Q152P |
probably damaging |
Het |
| Tectb |
C |
T |
19: 55,194,673 |
L319F |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 43,960,961 |
G413D |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,373,204 |
H84R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,428,489 |
N2437S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 85,007,059 |
Q1152R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,559,803 |
T92A |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,707,348 |
V35A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,463,579 |
T1113S |
unknown |
Het |
| Zfp169 |
A |
G |
13: 48,490,481 |
V390A |
unknown |
Het |
|
| Other mutations in Nr2e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Nr2e1
|
APN |
10 |
42,568,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01936:Nr2e1
|
APN |
10 |
42,567,973 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02272:Nr2e1
|
APN |
10 |
42,567,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03092:Nr2e1
|
APN |
10 |
42,571,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03405:Nr2e1
|
APN |
10 |
42,568,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Dubious
|
UTSW |
10 |
42,571,487 (GRCm38) |
nonsense |
probably null |
|
|
BB020:Nr2e1
|
UTSW |
10 |
42,563,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1581:Nr2e1
|
UTSW |
10 |
42,567,968 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1807:Nr2e1
|
UTSW |
10 |
42,582,909 (GRCm38) |
splice site |
probably null |
|
|
R1879:Nr2e1
|
UTSW |
10 |
42,568,371 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1944:Nr2e1
|
UTSW |
10 |
42,572,778 (GRCm38) |
missense |
probably benign |
|
|
R2426:Nr2e1
|
UTSW |
10 |
42,563,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2842:Nr2e1
|
UTSW |
10 |
42,568,445 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4515:Nr2e1
|
UTSW |
10 |
42,578,191 (GRCm38) |
missense |
probably benign |
|
|
R5305:Nr2e1
|
UTSW |
10 |
42,571,487 (GRCm38) |
nonsense |
probably null |
|
|
R5316:Nr2e1
|
UTSW |
10 |
42,571,491 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5325:Nr2e1
|
UTSW |
10 |
42,572,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5908:Nr2e1
|
UTSW |
10 |
42,572,769 (GRCm38) |
missense |
probably benign |
|
|
R7040:Nr2e1
|
UTSW |
10 |
42,568,378 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7593:Nr2e1
|
UTSW |
10 |
42,563,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7765:Nr2e1
|
UTSW |
10 |
42,574,437 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7933:Nr2e1
|
UTSW |
10 |
42,563,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8158:Nr2e1
|
UTSW |
10 |
42,582,885 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8342:Nr2e1
|
UTSW |
10 |
42,568,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8916:Nr2e1
|
UTSW |
10 |
42,567,868 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9145:Nr2e1
|
UTSW |
10 |
42,572,952 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9189:Nr2e1
|
UTSW |
10 |
42,578,272 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9381:Nr2e1
|
UTSW |
10 |
42,563,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9499:Nr2e1
|
UTSW |
10 |
42,571,491 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9552:Nr2e1
|
UTSW |
10 |
42,571,491 (GRCm38) |
missense |
probably benign |
0.10 |
|
Z1177:Nr2e1
|
UTSW |
10 |
42,568,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTGTTGTAACCACCTGGC -3'
(R):5'- GGCCCTGACATCAATTTCCTG -3'
Sequencing Primer
(F):5'- ACAGCAGGTCATAGCTGTTG -3'
(R):5'- GCCTTCTCCTATTGCAGATACC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation