Incidental Mutation 'R6033:Npas2'
| ID |
486364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npas2
|
| Ensembl Gene |
ENSMUSG00000026077 |
| Gene Name |
neuronal PAS domain protein 2 |
| Synonyms |
bHLHe9, MOP4 |
| MMRRC Submission |
044205-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39233013-39402321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39377261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 541
(V541A)
|
| 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: V541A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: V541A
| 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: ENSMUST00000172825
|
| Meta Mutation Damage Score |
0.1859 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
A |
8: 84,645,551 (GRCm39) |
V58E |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,118,403 (GRCm39) |
S240P |
probably damaging |
Het |
| Alox12e |
C |
T |
11: 70,206,839 (GRCm39) |
G616D |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,324,787 (GRCm39) |
|
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,198 (GRCm39) |
E72G |
probably damaging |
Het |
| Cmtm8 |
T |
C |
9: 114,625,141 (GRCm39) |
T97A |
probably damaging |
Het |
| Cnmd |
T |
C |
14: 79,898,945 (GRCm39) |
S36G |
probably benign |
Het |
| Dnah3 |
A |
C |
7: 119,670,870 (GRCm39) |
N609K |
probably benign |
Het |
| Dph1 |
C |
T |
11: 75,082,023 (GRCm39) |
|
probably benign |
Het |
| Drosha |
G |
A |
15: 12,926,085 (GRCm39) |
A1225T |
probably benign |
Het |
| Eid3 |
T |
A |
10: 82,703,487 (GRCm39) |
I316K |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,530,622 (GRCm39) |
L449S |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,066 (GRCm39) |
|
probably benign |
Het |
| Glra1 |
A |
G |
11: 55,418,245 (GRCm39) |
Y250H |
probably damaging |
Het |
| Gm21972 |
T |
C |
1: 86,064,817 (GRCm39) |
Y950H |
probably damaging |
Het |
| Gm6712 |
T |
A |
17: 17,514,678 (GRCm39) |
|
noncoding transcript |
Het |
| Grb7 |
C |
T |
11: 98,346,023 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,310,583 (GRCm39) |
E941G |
probably benign |
Het |
| Homer2 |
A |
C |
7: 81,268,427 (GRCm39) |
S78A |
possibly damaging |
Het |
| Ica1 |
T |
A |
6: 8,630,799 (GRCm39) |
|
probably null |
Het |
| Ifna12 |
T |
C |
4: 88,521,154 (GRCm39) |
E131G |
possibly damaging |
Het |
| Igbp1b |
T |
C |
6: 138,635,207 (GRCm39) |
Y79C |
probably damaging |
Het |
| Incenp |
C |
T |
19: 9,850,061 (GRCm39) |
V871I |
probably damaging |
Het |
| Jaml |
G |
A |
9: 45,000,008 (GRCm39) |
G60D |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,493,193 (GRCm39) |
C110Y |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,255,022 (GRCm39) |
V460A |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,685,006 (GRCm39) |
C125S |
probably benign |
Het |
| Ncan |
T |
C |
8: 70,565,240 (GRCm39) |
D229G |
probably damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,225,475 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp10 |
A |
T |
7: 108,523,784 (GRCm39) |
D565E |
probably benign |
Het |
| Nsg2 |
G |
A |
11: 32,005,058 (GRCm39) |
V87M |
possibly damaging |
Het |
| Or5al6 |
A |
T |
2: 85,976,613 (GRCm39) |
V155E |
probably damaging |
Het |
| Prkd2 |
C |
T |
7: 16,599,639 (GRCm39) |
R701C |
probably damaging |
Het |
| Prr3 |
A |
T |
17: 36,289,516 (GRCm39) |
|
probably null |
Het |
| Prr5 |
A |
G |
15: 84,626,126 (GRCm39) |
E67G |
probably damaging |
Het |
| Prss36 |
T |
C |
7: 127,533,739 (GRCm39) |
R22G |
probably benign |
Het |
| Slc45a4 |
G |
A |
15: 73,453,825 (GRCm39) |
A716V |
probably damaging |
Het |
| Slc46a1 |
T |
C |
11: 78,356,833 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,609,099 (GRCm39) |
I768T |
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,009,041 (GRCm39) |
|
probably null |
Het |
| Taar2 |
A |
T |
10: 23,816,874 (GRCm39) |
H138L |
probably benign |
Het |
| Taf2 |
A |
C |
15: 54,922,297 (GRCm39) |
L330R |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,901,210 (GRCm39) |
|
probably null |
Het |
| Tmed4 |
A |
T |
11: 6,224,491 (GRCm39) |
Y56* |
probably null |
Het |
| Tmem156 |
A |
T |
5: 65,232,964 (GRCm39) |
F135L |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,025,713 (GRCm39) |
S65P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,557,171 (GRCm39) |
G28199R |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,447,159 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,512,419 (GRCm39) |
T110S |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,137 (GRCm39) |
V809E |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,318,599 (GRCm39) |
F476L |
probably damaging |
Het |
| Zbtb24 |
T |
C |
10: 41,340,397 (GRCm39) |
F498L |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,236,419 (GRCm39) |
L494Q |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,554,464 (GRCm39) |
S481P |
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 |
|
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'- AGATCCTGAGAACAGCGACC -3'
(R):5'- AAATGCTTAGGGCTCTCAAGG -3'
Sequencing Primer
(F):5'- GTGGTCTCAGGCTGAAATAACTC -3'
(R):5'- GCTCTCAAGGCAGACTTTAGGTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation