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) question?
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

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
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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