Incidental Mutation 'IGL02608:Npas2'
ID 300357
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) question?
Stock # IGL02608
Quality Score
Status
Chromosome 1
Chromosomal Location 39233013-39402321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39384527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 607 (S607T)
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: S607T

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: S607T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172825
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Npas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02560:Npas2 APN 1 39,373,042 (GRCm39) splice site probably benign
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
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 2015-04-16