Incidental Mutation 'R6778:Npas2'
ID |
531357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npas2
|
Ensembl Gene |
ENSMUSG00000026077 |
Gene Name |
neuronal PAS domain protein 2 |
Synonyms |
bHLHe9, MOP4 |
MMRRC Submission |
044894-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6778 (G1)
|
Quality Score |
194.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
39233013-39402321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39364381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 241
(M241K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056815]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056815
AA Change: M241K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000054719 Gene: ENSMUSG00000026077 AA Change: M241K
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
Fubp3 |
A |
T |
2: 31,488,685 (GRCm39) |
K180N |
possibly damaging |
Het |
Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
Igsf21 |
G |
T |
4: 139,761,959 (GRCm39) |
R240S |
probably benign |
Het |
Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
Rdh10 |
T |
C |
1: 16,176,408 (GRCm39) |
F56S |
probably damaging |
Het |
Rin1 |
T |
C |
19: 5,104,914 (GRCm39) |
L647P |
probably damaging |
Het |
Sgk3 |
T |
A |
1: 9,956,369 (GRCm39) |
|
probably null |
Het |
Sgpp1 |
A |
G |
12: 75,763,068 (GRCm39) |
I371T |
probably benign |
Het |
Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
Spata31f3 |
T |
C |
4: 42,868,522 (GRCm39) |
K367R |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
probably benign |
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 |
|
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 |
|
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'- ACGGGAATTAGCTACAGATGAC -3'
(R):5'- AACAACTGTTCCTATTGCCAAGG -3'
Sequencing Primer
(F):5'- GATGACAAATTTCGGTACAGCAC -3'
(R):5'- AACTGTTCCTATTGCCAAGGAGTCC -3'
|
Posted On |
2018-08-29 |