Incidental Mutation 'R6252:Npas3'
ID 506291
Institutional Source Beutler Lab
Gene Symbol Npas3
Ensembl Gene ENSMUSG00000021010
Gene Name neuronal PAS domain protein 3
Synonyms bHLHe12, 4930423H22Rik
MMRRC Submission 044369-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R6252 (G1)
Quality Score 210.009
Status Not validated
Chromosome 12
Chromosomal Location 53294940-54118958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54115673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 834 (Y834C)
Ref Sequence ENSEMBL: ENSMUSP00000152411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101432] [ENSMUST00000223057] [ENSMUST00000223358]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101432
AA Change: Y865C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: Y865C

DomainStartEndE-ValueType
HLH 64 119 1.34e-6 SMART
PAS 154 220 8.69e-11 SMART
low complexity region 234 256 N/A INTRINSIC
PAS 326 392 7.4e-5 SMART
PAC 398 441 2.46e-1 SMART
low complexity region 461 477 N/A INTRINSIC
low complexity region 524 544 N/A INTRINSIC
low complexity region 598 627 N/A INTRINSIC
low complexity region 696 709 N/A INTRINSIC
low complexity region 739 754 N/A INTRINSIC
low complexity region 759 773 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185390
Predicted Effect probably damaging
Transcript: ENSMUST00000223057
AA Change: Y847C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223358
AA Change: Y834C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,305 (GRCm39) I393V probably benign Het
Agl C T 3: 116,580,878 (GRCm39) probably null Het
Ankrd11 T C 8: 123,620,561 (GRCm39) E1097G possibly damaging Het
Aoc1 A G 6: 48,883,015 (GRCm39) H297R probably benign Het
AW146154 G A 7: 41,130,811 (GRCm39) P102S probably benign Het
Cap1 A G 4: 122,766,193 (GRCm39) V15A probably benign Het
Cavin2 A G 1: 51,328,828 (GRCm39) N95S probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Col8a1 A G 16: 57,447,368 (GRCm39) V714A unknown Het
Crispld1 A G 1: 17,819,731 (GRCm39) E243G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Elapor2 T C 5: 9,460,693 (GRCm39) Y205H probably damaging Het
Epg5 T C 18: 78,028,382 (GRCm39) F1308L probably damaging Het
Eqtn A T 4: 94,796,006 (GRCm39) S232T probably damaging Het
Esyt1 T C 10: 128,347,771 (GRCm39) E973G probably benign Het
Fbxl13 T A 5: 21,826,499 (GRCm39) M96L possibly damaging Het
Frem2 A T 3: 53,479,869 (GRCm39) F1941L probably damaging Het
Gbf1 T C 19: 46,259,995 (GRCm39) V1050A probably benign Het
Hecw1 T C 13: 14,446,664 (GRCm39) H721R probably damaging Het
Idh1 T G 1: 65,207,690 (GRCm39) Q163P probably benign Het
Kctd15 A G 7: 34,341,348 (GRCm39) V193A probably benign Het
Opn4 C T 14: 34,316,788 (GRCm39) V334I probably benign Het
Or10w3 A T 19: 13,704,419 (GRCm39) S265C probably damaging Het
Pappa A G 4: 65,107,649 (GRCm39) M687V probably benign Het
Pcdhgc5 T C 18: 37,954,583 (GRCm39) F619S probably damaging Het
Pdlim2 G T 14: 70,405,137 (GRCm39) Q243K probably damaging Het
Pkd1 T C 17: 24,800,200 (GRCm39) L2987P probably damaging Het
Plcz1 A G 6: 139,953,329 (GRCm39) probably null Het
Prpf6 C T 2: 181,289,156 (GRCm39) A615V probably damaging Het
Pwp1 T C 10: 85,710,373 (GRCm39) V5A probably benign Het
Rsph10b T A 5: 143,873,939 (GRCm39) D13E possibly damaging Het
Slc44a3 T A 3: 121,307,386 (GRCm39) D200V probably damaging Het
Spata31h1 T C 10: 82,119,588 (GRCm39) Q4474R probably benign Het
St7l T C 3: 104,826,819 (GRCm39) probably null Het
Stc2 T A 11: 31,310,346 (GRCm39) D230V probably damaging Het
Syne2 C A 12: 76,016,210 (GRCm39) T3264K probably benign Het
Trp73 C A 4: 154,148,854 (GRCm39) D252Y probably damaging Het
Ubr1 T C 2: 120,737,376 (GRCm39) D1056G probably benign Het
Vcan C T 13: 89,839,339 (GRCm39) W1108* probably null Het
Zfp772 G T 7: 7,207,018 (GRCm39) S224R possibly damaging Het
Zfp804b A T 5: 6,819,478 (GRCm39) V1159E probably damaging Het
Zfp981 T G 4: 146,621,970 (GRCm39) S298R probably benign Het
Zmat3 A G 3: 32,395,770 (GRCm39) F246L possibly damaging Het
Zranb1 A G 7: 132,585,633 (GRCm39) T720A probably benign Het
Other mutations in Npas3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Npas3 APN 12 54,050,343 (GRCm39) missense probably damaging 1.00
IGL01330:Npas3 APN 12 54,095,602 (GRCm39) missense probably damaging 1.00
IGL01376:Npas3 APN 12 54,091,369 (GRCm39) missense probably benign 0.01
IGL01634:Npas3 APN 12 53,993,946 (GRCm39) missense probably damaging 1.00
IGL02456:Npas3 APN 12 54,095,550 (GRCm39) missense probably damaging 0.99
IGL02663:Npas3 APN 12 54,115,691 (GRCm39) missense probably damaging 1.00
IGL02731:Npas3 APN 12 54,114,578 (GRCm39) missense probably benign 0.01
IGL02955:Npas3 APN 12 53,548,048 (GRCm39) missense probably damaging 0.96
IGL03001:Npas3 APN 12 53,547,975 (GRCm39) missense probably damaging 1.00
IGL03047:Npas3 APN 12 53,878,470 (GRCm39) splice site probably benign
ANU05:Npas3 UTSW 12 54,114,857 (GRCm39) missense possibly damaging 0.49
IGL02837:Npas3 UTSW 12 53,993,980 (GRCm39) missense possibly damaging 0.79
R0042:Npas3 UTSW 12 54,095,624 (GRCm39) missense probably damaging 1.00
R0042:Npas3 UTSW 12 54,095,624 (GRCm39) missense probably damaging 1.00
R0396:Npas3 UTSW 12 53,878,528 (GRCm39) missense probably damaging 1.00
R1687:Npas3 UTSW 12 54,095,658 (GRCm39) splice site probably null
R1863:Npas3 UTSW 12 54,115,609 (GRCm39) missense probably damaging 1.00
R2004:Npas3 UTSW 12 54,114,680 (GRCm39) missense possibly damaging 0.63
R2047:Npas3 UTSW 12 54,115,612 (GRCm39) missense probably damaging 0.99
R2049:Npas3 UTSW 12 54,108,871 (GRCm39) missense probably damaging 1.00
R2278:Npas3 UTSW 12 53,687,285 (GRCm39) missense possibly damaging 0.92
R2323:Npas3 UTSW 12 54,115,129 (GRCm39) missense probably damaging 1.00
R2871:Npas3 UTSW 12 54,114,796 (GRCm39) nonsense probably null
R2871:Npas3 UTSW 12 54,114,796 (GRCm39) nonsense probably null
R3116:Npas3 UTSW 12 54,114,508 (GRCm39) splice site probably null
R3431:Npas3 UTSW 12 54,115,832 (GRCm39) missense probably damaging 0.99
R3731:Npas3 UTSW 12 53,401,175 (GRCm39) missense probably benign 0.11
R3767:Npas3 UTSW 12 54,115,857 (GRCm39) makesense probably null
R4332:Npas3 UTSW 12 54,108,852 (GRCm39) missense probably damaging 0.99
R4593:Npas3 UTSW 12 54,115,280 (GRCm39) missense probably benign 0.08
R4601:Npas3 UTSW 12 54,091,361 (GRCm39) missense probably damaging 0.99
R4654:Npas3 UTSW 12 54,108,915 (GRCm39) critical splice donor site probably null
R4946:Npas3 UTSW 12 54,112,618 (GRCm39) missense probably damaging 1.00
R5140:Npas3 UTSW 12 53,547,897 (GRCm39) nonsense probably null
R5302:Npas3 UTSW 12 54,115,619 (GRCm39) missense probably damaging 1.00
R5524:Npas3 UTSW 12 54,115,721 (GRCm39) missense possibly damaging 0.64
R5735:Npas3 UTSW 12 54,050,262 (GRCm39) missense probably benign 0.00
R6438:Npas3 UTSW 12 54,115,481 (GRCm39) missense probably damaging 0.99
R6987:Npas3 UTSW 12 54,115,036 (GRCm39) missense possibly damaging 0.94
R6994:Npas3 UTSW 12 54,115,576 (GRCm39) missense probably damaging 0.96
R7304:Npas3 UTSW 12 54,115,824 (GRCm39) missense probably damaging 1.00
R7684:Npas3 UTSW 12 54,115,609 (GRCm39) missense probably damaging 1.00
R7724:Npas3 UTSW 12 54,115,124 (GRCm39) missense possibly damaging 0.90
R7739:Npas3 UTSW 12 54,115,501 (GRCm39) missense probably damaging 1.00
R7826:Npas3 UTSW 12 53,878,539 (GRCm39) missense possibly damaging 0.92
R8017:Npas3 UTSW 12 54,091,462 (GRCm39) missense probably damaging 1.00
R8019:Npas3 UTSW 12 54,091,462 (GRCm39) missense probably damaging 1.00
R8034:Npas3 UTSW 12 53,687,312 (GRCm39) missense probably damaging 1.00
R8422:Npas3 UTSW 12 54,115,292 (GRCm39) missense probably benign
R9172:Npas3 UTSW 12 54,112,653 (GRCm39) missense probably benign 0.08
R9207:Npas3 UTSW 12 54,114,818 (GRCm39) missense possibly damaging 0.87
R9774:Npas3 UTSW 12 53,994,108 (GRCm39) missense probably damaging 1.00
X0003:Npas3 UTSW 12 54,091,511 (GRCm39) splice site probably null
X0064:Npas3 UTSW 12 53,401,167 (GRCm39) missense probably damaging 0.96
Z1176:Npas3 UTSW 12 53,547,963 (GRCm39) missense probably damaging 0.99
Z1177:Npas3 UTSW 12 53,993,989 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCCTTGCTGTACACTGGG -3'
(R):5'- GAAAACGACGATGCCTCCTGAG -3'

Sequencing Primer
(F):5'- AACGTCGTGCTTCCGCTG -3'
(R):5'- ATGCCTCCTGAGTGGGG -3'
Posted On 2018-03-15