Incidental Mutation 'IGL02560:Npas2'
| ID |
298209 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npas2
|
| Ensembl Gene |
ENSMUSG00000026077 |
| Gene Name |
neuronal PAS domain protein 2 |
| Synonyms |
bHLHe9, MOP4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
39233013-39402321 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 39373042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056815]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056815
|
| SMART Domains |
Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
15 |
65 |
6.56e-10 |
SMART |
|
PAS
|
84 |
150 |
4.28e-10 |
SMART |
|
PAS
|
239 |
305 |
4.03e-6 |
SMART |
|
PAC
|
311 |
354 |
6.2e-7 |
SMART |
|
low complexity region
|
400 |
419 |
N/A |
INTRINSIC |
|
coiled coil region
|
510 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
816 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. The encoded protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Dec 2014]
PHENOTYPE: Targeted mutation of this gene results in deficits in complex emotional long-term memory tasks [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
| Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,885,951 (GRCm39) |
L113P |
probably benign |
Het |
| Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
| Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
| Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,657,596 (GRCm39) |
D532G |
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,210 (GRCm39) |
V348A |
probably benign |
Het |
| Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
| Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
| Tcf4 |
A |
G |
18: 69,776,093 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
| Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
Het |
|
| Other mutations in Npas2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02608:Npas2
|
APN |
1 |
39,384,527 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02882:Npas2
|
APN |
1 |
39,352,077 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02976:Npas2
|
APN |
1 |
39,326,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Npas2
|
APN |
1 |
39,352,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03297:Npas2
|
APN |
1 |
39,331,771 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1263:Npas2
|
UTSW |
1 |
39,373,849 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1514:Npas2
|
UTSW |
1 |
39,350,935 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1618:Npas2
|
UTSW |
1 |
39,339,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1620:Npas2
|
UTSW |
1 |
39,372,993 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1844:Npas2
|
UTSW |
1 |
39,364,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Npas2
|
UTSW |
1 |
39,339,759 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1892:Npas2
|
UTSW |
1 |
39,384,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2002:Npas2
|
UTSW |
1 |
39,377,276 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3157:Npas2
|
UTSW |
1 |
39,386,690 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3551:Npas2
|
UTSW |
1 |
39,326,643 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4564:Npas2
|
UTSW |
1 |
39,326,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Npas2
|
UTSW |
1 |
39,401,066 (GRCm39) |
missense |
unknown |
|
|
R5044:Npas2
|
UTSW |
1 |
39,386,587 (GRCm39) |
nonsense |
probably null |
|
|
R5621:Npas2
|
UTSW |
1 |
39,398,794 (GRCm39) |
missense |
probably benign |
|
|
R5779:Npas2
|
UTSW |
1 |
39,326,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5822:Npas2
|
UTSW |
1 |
39,386,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Npas2
|
UTSW |
1 |
39,377,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6033:Npas2
|
UTSW |
1 |
39,377,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6155:Npas2
|
UTSW |
1 |
39,326,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Npas2
|
UTSW |
1 |
39,331,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Npas2
|
UTSW |
1 |
39,375,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6341:Npas2
|
UTSW |
1 |
39,339,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6656:Npas2
|
UTSW |
1 |
39,401,029 (GRCm39) |
missense |
unknown |
|
|
R6778:Npas2
|
UTSW |
1 |
39,364,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6803:Npas2
|
UTSW |
1 |
39,375,130 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7165:Npas2
|
UTSW |
1 |
39,331,798 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7250:Npas2
|
UTSW |
1 |
39,377,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Npas2
|
UTSW |
1 |
39,326,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7284:Npas2
|
UTSW |
1 |
39,363,548 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7833:Npas2
|
UTSW |
1 |
39,365,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Npas2
|
UTSW |
1 |
39,367,418 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8013:Npas2
|
UTSW |
1 |
39,377,146 (GRCm39) |
missense |
probably benign |
|
|
R8054:Npas2
|
UTSW |
1 |
39,326,652 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8510:Npas2
|
UTSW |
1 |
39,326,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Npas2
|
UTSW |
1 |
39,386,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:Npas2
|
UTSW |
1 |
39,331,797 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8779:Npas2
|
UTSW |
1 |
39,377,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9283:Npas2
|
UTSW |
1 |
39,326,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Npas2
|
UTSW |
1 |
39,377,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9675:Npas2
|
UTSW |
1 |
39,364,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Npas2
|
UTSW |
1 |
39,375,091 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation