Incidental Mutation 'R3551:Npas2'
ID 268320
Institutional Source Beutler Lab
Gene Symbol Npas2
Ensembl Gene ENSMUSG00000026077
Gene Name neuronal PAS domain protein 2
Synonyms bHLHe9, MOP4
MMRRC Submission 040668-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3551 (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 T at 39326643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 43 (M43L)
Ref Sequence ENSEMBL: ENSMUSP00000054719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056815] [ENSMUST00000173050]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056815
AA Change: M43L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: M43L

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 probably benign
Transcript: ENSMUST00000173050
AA Change: M43L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134241
Gene: ENSMUSG00000026077
AA Change: M43L

DomainStartEndE-ValueType
HLH 15 60 1.08e-5 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Adam24 G C 8: 41,132,632 (GRCm39) W33C probably benign Het
Adgrl2 A T 3: 148,564,599 (GRCm39) V327E probably damaging Het
Aqp7 T A 4: 41,045,329 (GRCm39) N17I probably benign Het
Bicra T A 7: 15,713,658 (GRCm39) Q848L probably benign Het
C4b T C 17: 34,960,846 (GRCm39) E240G possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Clca3a2 T A 3: 144,508,842 (GRCm39) N50I probably damaging Het
Dcaf7 A G 11: 105,945,622 (GRCm39) T324A probably benign Het
Dnah12 G A 14: 26,492,929 (GRCm39) R1230H probably benign Het
Dsg4 G A 18: 20,584,813 (GRCm39) V176M probably damaging Het
Ect2l A G 10: 18,039,141 (GRCm39) I339T probably damaging Het
Edc4 A T 8: 106,612,126 (GRCm39) I138F probably damaging Het
Ercc6l2 T A 13: 63,992,409 (GRCm39) V401E probably damaging Het
Gm3269 T A 14: 16,033,003 (GRCm39) V260D possibly damaging Het
Gm4076 C T 13: 85,275,269 (GRCm39) noncoding transcript Het
Gm4922 A T 10: 18,660,244 (GRCm39) N159K probably benign Het
Gm5134 G T 10: 75,836,281 (GRCm39) A421S probably benign Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Ipo4 A G 14: 55,870,560 (GRCm39) V288A probably benign Het
Kng2 A G 16: 22,830,745 (GRCm39) probably null Het
Lrfn1 T C 7: 28,159,479 (GRCm39) L466P possibly damaging Het
Magi1 T A 6: 93,676,610 (GRCm39) K916N probably damaging Het
Mms19 T C 19: 41,938,237 (GRCm39) T720A probably benign Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Nup43 A G 10: 7,550,778 (GRCm39) D216G possibly damaging Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Pear1 A G 3: 87,665,439 (GRCm39) F145L probably benign Het
Pgap1 A G 1: 54,569,302 (GRCm39) S355P possibly damaging Het
Prr14l A T 5: 32,985,963 (GRCm39) probably null Het
Ptpn12 T C 5: 21,194,047 (GRCm39) K742E possibly damaging Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Sema4c G C 1: 36,592,804 (GRCm39) T138S probably benign Het
Slc4a2 C T 5: 24,635,099 (GRCm39) T168M probably benign Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spice1 G T 16: 44,178,232 (GRCm39) S85I probably damaging Het
Thrb T A 14: 17,963,214 (GRCm38) I59N probably damaging Het
Trav7-1 A G 14: 52,892,756 (GRCm39) D103G probably damaging Het
Ubap2l G T 3: 89,922,758 (GRCm39) T766N unknown Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp759 T C 13: 67,287,031 (GRCm39) V194A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GATCTGGTGCTCTCCGTAGAAAAC -3'
(R):5'- TTTGGAGGAGAGCCCATGAG -3'

Sequencing Primer
(F):5'- TGCTCTCCGTAGAAAACACCCTG -3'
(R):5'- CCATGAGGGATGAGGGTGAC -3'
Posted On 2015-02-19