Incidental Mutation 'R5621:Npas2'
ID |
441539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npas2
|
Ensembl Gene |
ENSMUSG00000026077 |
Gene Name |
neuronal PAS domain protein 2 |
Synonyms |
bHLHe9, MOP4 |
MMRRC Submission |
043279-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5621 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
39233013-39402321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39398794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 730
(T730A)
|
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
AA Change: T730A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000054719 Gene: ENSMUSG00000026077 AA Change: T730A
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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (63/64) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
G |
17: 85,003,421 (GRCm39) |
L417R |
probably damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,664 (GRCm39) |
A346V |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,231,049 (GRCm39) |
V854A |
probably benign |
Het |
Bbox1 |
C |
T |
2: 110,122,868 (GRCm39) |
W140* |
probably null |
Het |
Ccdc28a |
A |
T |
10: 18,092,016 (GRCm39) |
N110K |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,068 (GRCm39) |
E270K |
probably damaging |
Het |
Cilp |
A |
G |
9: 65,186,073 (GRCm39) |
K723E |
possibly damaging |
Het |
Ciz1 |
C |
A |
2: 32,261,753 (GRCm39) |
A455E |
probably damaging |
Het |
Csmd3 |
T |
G |
15: 48,177,374 (GRCm39) |
H388P |
possibly damaging |
Het |
Dnajc8 |
A |
G |
4: 132,280,563 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
G |
T |
16: 3,856,982 (GRCm39) |
C164F |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,120,909 (GRCm39) |
I2126K |
possibly damaging |
Het |
Epha4 |
G |
T |
1: 77,491,686 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,430,175 (GRCm39) |
C201R |
probably damaging |
Het |
Fgf8 |
T |
C |
19: 45,730,821 (GRCm39) |
Y68C |
probably benign |
Het |
Gabrb1 |
A |
T |
5: 72,266,071 (GRCm39) |
I243F |
probably damaging |
Het |
Gpam |
A |
C |
19: 55,067,692 (GRCm39) |
S484A |
probably damaging |
Het |
Hectd2 |
T |
A |
19: 36,596,151 (GRCm39) |
N745K |
probably damaging |
Het |
Hspa13 |
T |
C |
16: 75,563,651 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
G |
11: 86,133,773 (GRCm39) |
F426L |
probably benign |
Het |
Ism1 |
A |
G |
2: 139,520,641 (GRCm39) |
T18A |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,107,616 (GRCm39) |
Q650L |
probably benign |
Het |
Jmjd4 |
T |
C |
11: 59,341,219 (GRCm39) |
F50S |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,226,883 (GRCm39) |
N125S |
probably benign |
Het |
Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,166,261 (GRCm39) |
I552V |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,682,186 (GRCm39) |
E441G |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,716,371 (GRCm39) |
H2144Q |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,954,752 (GRCm39) |
S56P |
probably benign |
Het |
Mrgprb3 |
A |
G |
7: 48,293,116 (GRCm39) |
I145T |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,062,719 (GRCm39) |
T287I |
probably damaging |
Het |
Or4c108 |
T |
C |
2: 88,803,810 (GRCm39) |
I142V |
probably benign |
Het |
Or4c15b |
G |
A |
2: 89,112,697 (GRCm39) |
P281L |
probably damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,815,222 (GRCm39) |
E571G |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,669,195 (GRCm39) |
V731E |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,269,381 (GRCm39) |
Y489* |
probably null |
Het |
Rrp12 |
T |
C |
19: 41,868,856 (GRCm39) |
T541A |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,731,329 (GRCm39) |
W660* |
probably null |
Het |
Sertad2 |
T |
A |
11: 20,598,061 (GRCm39) |
F86I |
possibly damaging |
Het |
Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
Slc22a22 |
G |
T |
15: 57,122,547 (GRCm39) |
F143L |
probably benign |
Het |
Slc22a28 |
C |
T |
19: 8,048,376 (GRCm39) |
V424I |
probably benign |
Het |
Slc7a11 |
T |
G |
3: 50,393,324 (GRCm39) |
K106N |
probably damaging |
Het |
Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
Sphk1 |
C |
T |
11: 116,427,192 (GRCm39) |
|
probably benign |
Het |
Spock3 |
A |
T |
8: 63,597,040 (GRCm39) |
T118S |
probably benign |
Het |
Stk17b |
G |
T |
1: 53,810,943 (GRCm39) |
S54* |
probably null |
Het |
Sycp2 |
A |
G |
2: 178,023,711 (GRCm39) |
I435T |
probably benign |
Het |
Tm2d3 |
G |
T |
7: 65,351,366 (GRCm39) |
D207Y |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,387,280 (GRCm38) |
N123Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,677,202 (GRCm39) |
T2044A |
possibly damaging |
Het |
Usp6nl |
A |
G |
2: 6,445,243 (GRCm39) |
S407G |
probably benign |
Het |
Vmn1r195 |
G |
A |
13: 22,462,559 (GRCm39) |
V10I |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,811,703 (GRCm39) |
R447H |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCTGTAGATGTTAGTGAAGGT -3'
(R):5'- ACTGAACTCAAGTGGTTCATCA -3'
Sequencing Primer
(F):5'- AGGCAGTTATCCACCATGTG -3'
(R):5'- GTTCATCAACCTGCCCCCTG -3'
|
Posted On |
2016-11-08 |