Incidental Mutation 'IGL03297:Npas2'
ID416114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npas2
Ensembl Gene ENSMUSG00000026077
Gene Nameneuronal PAS domain protein 2
SynonymsbHLHe9, MOP4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03297
Quality Score
Status
Chromosome1
Chromosomal Location39193731-39363236 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39292690 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 62 (V62A)
Ref Sequence ENSEMBL: ENSMUSP00000054719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056815]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056815
AA Change: V62A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: V62A

DomainStartEndE-ValueType
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,423,426 G1624S probably damaging Het
Adhfe1 A G 1: 9,549,948 probably benign Het
Ano6 C A 15: 95,962,277 T760N probably damaging Het
Camsap2 T C 1: 136,297,801 M196V probably benign Het
Cd209d T C 8: 3,878,476 D3G possibly damaging Het
Cdh5 T A 8: 104,128,199 F253Y probably damaging Het
Cnot10 T C 9: 114,598,716 E610G possibly damaging Het
Cnot4 T C 6: 35,024,223 N579S probably benign Het
Csmd1 G T 8: 16,009,432 S2101* probably null Het
Dgkq C A 5: 108,650,274 R706L probably damaging Het
Gm5422 T C 10: 31,249,731 noncoding transcript Het
Gpr34 A G X: 13,639,442 Y70C probably damaging Het
Herc6 T A 6: 57,662,389 L914Q probably benign Het
Ifitm6 T C 7: 141,016,035 Y115C probably damaging Het
Iqcg G T 16: 33,035,632 probably benign Het
Myo15 A G 11: 60,479,141 D909G probably damaging Het
Nefl A G 14: 68,084,224 T88A possibly damaging Het
Nfatc2 T A 2: 168,536,218 N509I probably damaging Het
Nkd1 T C 8: 88,574,274 probably benign Het
Oas2 T G 5: 120,735,085 D635A possibly damaging Het
Obscn C T 11: 59,060,886 V4014M possibly damaging Het
Ogfr C A 2: 180,594,407 H262N possibly damaging Het
Olfr433 T G 1: 174,042,117 S56A probably benign Het
Olfr913 A T 9: 38,594,525 L101F probably benign Het
Pa2g4 T C 10: 128,563,236 D104G probably damaging Het
Parp11 T C 6: 127,490,082 probably benign Het
Ppp2r5a C T 1: 191,354,762 V360I probably benign Het
Ptpn13 A T 5: 103,541,077 K912I probably benign Het
Sec16a A G 2: 26,439,190 S938P probably benign Het
Slc15a1 A C 14: 121,486,684 I170S probably damaging Het
Smchd1 T C 17: 71,349,700 N1924S probably benign Het
Sprr4 G A 3: 92,500,424 P24S unknown Het
Trim30b A T 7: 104,365,895 N95K probably benign Het
Tyw1 C T 5: 130,340,734 A687V probably damaging Het
Vmn2r14 T A 5: 109,216,107 I648F probably damaging Het
Vmn2r78 T A 7: 86,920,761 C162* probably null Het
Other mutations in Npas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02560:Npas2 APN 1 39333961 splice site probably benign
IGL02608:Npas2 APN 1 39345446 missense probably benign 0.06
IGL02882:Npas2 APN 1 39312996 missense probably benign 0.08
IGL02976:Npas2 APN 1 39287484 missense probably damaging 1.00
IGL03130:Npas2 APN 1 39313028 missense probably damaging 1.00
R1263:Npas2 UTSW 1 39334768 missense possibly damaging 0.51
R1514:Npas2 UTSW 1 39311854 missense possibly damaging 0.82
R1618:Npas2 UTSW 1 39300727 missense probably damaging 1.00
R1620:Npas2 UTSW 1 39333912 missense possibly damaging 0.68
R1844:Npas2 UTSW 1 39325375 missense probably damaging 1.00
R1868:Npas2 UTSW 1 39300678 missense probably benign 0.03
R1892:Npas2 UTSW 1 39345422 missense probably benign 0.00
R2002:Npas2 UTSW 1 39338195 missense probably benign 0.10
R3157:Npas2 UTSW 1 39347609 missense possibly damaging 0.92
R3551:Npas2 UTSW 1 39287562 missense probably benign 0.05
R4564:Npas2 UTSW 1 39287566 missense probably damaging 1.00
R4907:Npas2 UTSW 1 39361985 missense unknown
R5044:Npas2 UTSW 1 39347506 nonsense probably null
R5621:Npas2 UTSW 1 39359713 missense probably benign
R5779:Npas2 UTSW 1 39287571 missense possibly damaging 0.48
R5822:Npas2 UTSW 1 39347566 missense probably benign 0.00
R6033:Npas2 UTSW 1 39338180 missense probably damaging 0.99
R6033:Npas2 UTSW 1 39338180 missense probably damaging 0.99
R6155:Npas2 UTSW 1 39287476 missense probably damaging 1.00
R6193:Npas2 UTSW 1 39292762 missense probably damaging 1.00
R6220:Npas2 UTSW 1 39336061 missense probably benign 0.00
R6341:Npas2 UTSW 1 39300687 missense probably damaging 0.98
R6656:Npas2 UTSW 1 39361948 missense unknown
R6778:Npas2 UTSW 1 39325300 missense possibly damaging 0.92
R6803:Npas2 UTSW 1 39336049 missense probably benign 0.35
R7165:Npas2 UTSW 1 39292717 missense possibly damaging 0.79
R7250:Npas2 UTSW 1 39338107 missense probably damaging 1.00
R7268:Npas2 UTSW 1 39287577 missense probably damaging 0.98
R7284:Npas2 UTSW 1 39324467 missense probably benign 0.36
R7833:Npas2 UTSW 1 39326147 missense probably damaging 1.00
R7994:Npas2 UTSW 1 39328337 missense possibly damaging 0.86
R8013:Npas2 UTSW 1 39338065 missense probably benign
R8054:Npas2 UTSW 1 39287571 missense possibly damaging 0.69
R8510:Npas2 UTSW 1 39287472 missense probably damaging 1.00
Z1176:Npas2 UTSW 1 39336010 missense probably benign 0.03
Posted On2016-08-02