Incidental Mutation 'IGL03130:Npas2'
| ID |
410268 |
| 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 # |
IGL03130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
39233013-39402321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 39352109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 186
(E186D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056815]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056815
AA Change: E186D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: E186D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173076
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
G |
T |
10: 85,224,347 (GRCm39) |
|
probably null |
Het |
| Agtpbp1 |
T |
C |
13: 59,622,403 (GRCm39) |
E941G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,808 (GRCm39) |
Y1526* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,572,577 (GRCm39) |
I1165V |
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,558,393 (GRCm39) |
D473G |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,436,222 (GRCm39) |
L176F |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,654,689 (GRCm39) |
N279S |
probably benign |
Het |
| Dpy19l3 |
A |
G |
7: 35,452,097 (GRCm39) |
S16P |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,288 (GRCm39) |
C1806S |
probably benign |
Het |
| Fam151b |
T |
C |
13: 92,586,701 (GRCm39) |
Y244C |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,255,787 (GRCm39) |
M750T |
possibly damaging |
Het |
| Gm11564 |
T |
A |
11: 99,705,879 (GRCm39) |
T184S |
unknown |
Het |
| Gnptab |
A |
G |
10: 88,272,233 (GRCm39) |
K958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,924,310 (GRCm39) |
S162P |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,500,362 (GRCm39) |
S2651P |
probably benign |
Het |
| LTO1 |
A |
G |
7: 144,470,197 (GRCm39) |
E42G |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,513,403 (GRCm39) |
D56G |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,256,920 (GRCm39) |
Y528H |
probably damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,166 (GRCm39) |
D293E |
probably benign |
Het |
| Or7c19 |
A |
T |
8: 85,957,258 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or7d11 |
C |
A |
9: 19,966,668 (GRCm39) |
L30F |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,468,640 (GRCm39) |
Y520* |
probably null |
Het |
| Plekhm1 |
C |
T |
11: 103,268,207 (GRCm39) |
R588H |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,344,341 (GRCm39) |
H371Q |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,207,610 (GRCm39) |
|
probably benign |
Het |
| Rela |
T |
C |
19: 5,689,909 (GRCm39) |
C120R |
probably damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,532,008 (GRCm39) |
I665F |
probably damaging |
Het |
| Spg21 |
A |
G |
9: 65,380,990 (GRCm39) |
Q99R |
probably benign |
Het |
| St14 |
A |
G |
9: 31,008,367 (GRCm39) |
|
probably null |
Het |
| Sult1c2 |
A |
T |
17: 54,137,099 (GRCm39) |
N274K |
probably benign |
Het |
| Syk |
T |
C |
13: 52,776,768 (GRCm39) |
V256A |
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,844,222 (GRCm39) |
D66G |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,885,580 (GRCm39) |
T374M |
probably damaging |
Het |
| Tns4 |
T |
C |
11: 98,959,095 (GRCm39) |
H668R |
probably damaging |
Het |
| Tsn |
C |
T |
1: 118,232,999 (GRCm39) |
A102T |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,189 (GRCm39) |
S350T |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,214 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,515,970 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,169,276 (GRCm39) |
D618G |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,373 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
T |
C |
19: 55,380,279 (GRCm39) |
Y143H |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,620 (GRCm39) |
Y17N |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,767,761 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,787,586 (GRCm39) |
T251A |
probably damaging |
Het |
|
| Other mutations in Npas2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02560:Npas2
|
APN |
1 |
39,373,042 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation