Incidental Mutation 'IGL02955:Npas3'
ID 365073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npas3
Ensembl Gene ENSMUSG00000021010
Gene Name neuronal PAS domain protein 3
Synonyms bHLHe12, 4930423H22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL02955
Quality Score
Status
Chromosome 12
Chromosomal Location 53294940-54118958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 53548048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 101 (N101K)
Ref Sequence ENSEMBL: ENSMUSP00000152411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101432] [ENSMUST00000220986] [ENSMUST00000223057] [ENSMUST00000223358]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101432
AA Change: N131K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: N131K

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 probably benign
Transcript: ENSMUST00000220986
Predicted Effect probably benign
Transcript: ENSMUST00000223057
AA Change: N94K

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably damaging
Transcript: ENSMUST00000223358
AA Change: N101K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T A 11: 76,309,991 (GRCm39) H840L probably damaging Het
Anks1 A G 17: 28,273,291 (GRCm39) D970G probably damaging Het
B4galnt4 A G 7: 140,644,591 (GRCm39) K162R probably null Het
Bicd2 T C 13: 49,531,691 (GRCm39) V311A probably benign Het
Cblif T C 19: 11,725,027 (GRCm39) L6P possibly damaging Het
Ccdc162 A G 10: 41,437,123 (GRCm39) L489P probably damaging Het
Cd55 G T 1: 130,377,219 (GRCm39) T38K probably damaging Het
Cep250 C A 2: 155,817,676 (GRCm39) A749E probably benign Het
Cntn3 G T 6: 102,255,262 (GRCm39) T212N probably damaging Het
Cntnap5c T A 17: 58,199,097 (GRCm39) probably benign Het
Dclre1c A G 2: 3,439,089 (GRCm39) E83G probably damaging Het
Dok4 T C 8: 95,592,256 (GRCm39) N244S probably damaging Het
Dync2h1 T C 9: 7,142,864 (GRCm39) T1151A probably benign Het
Fer G A 17: 64,298,712 (GRCm39) probably null Het
Hexb A G 13: 97,317,584 (GRCm39) probably benign Het
Ints5 T C 19: 8,875,014 (GRCm39) L991P probably damaging Het
Itga5 T C 15: 103,259,261 (GRCm39) D722G possibly damaging Het
Jup A G 11: 100,267,565 (GRCm39) I586T probably benign Het
Lig1 G A 7: 13,030,273 (GRCm39) G417R probably damaging Het
Lig4 A G 8: 10,022,103 (GRCm39) I559T possibly damaging Het
Mcm3ap A G 10: 76,343,300 (GRCm39) I1731V probably benign Het
Mfsd13a T G 19: 46,356,192 (GRCm39) V99G possibly damaging Het
Nelfcd A G 2: 174,264,391 (GRCm39) H153R probably damaging Het
Nlrp1b A G 11: 71,060,637 (GRCm39) Y724H possibly damaging Het
Nuf2 A G 1: 169,334,807 (GRCm39) probably benign Het
Or10am5 T C 7: 6,517,682 (GRCm39) T249A probably damaging Het
Or11g7 C T 14: 50,691,442 (GRCm39) T311I probably damaging Het
Or5c1 A T 2: 37,222,013 (GRCm39) M85L probably benign Het
Polr3c A G 3: 96,621,628 (GRCm39) Y423H probably damaging Het
Pomgnt2 A G 9: 121,811,956 (GRCm39) L275P probably damaging Het
Ptprj T G 2: 90,298,808 (GRCm39) probably null Het
Pxdn T C 12: 30,053,156 (GRCm39) I931T probably damaging Het
Rad51b C T 12: 79,371,856 (GRCm39) Q190* probably null Het
Rpl10a T C 17: 28,547,967 (GRCm39) I36T probably damaging Het
Tagap1 T C 17: 7,223,781 (GRCm39) H305R probably damaging Het
Tmem154 A G 3: 84,591,508 (GRCm39) probably benign Het
Vil1 A G 1: 74,457,682 (GRCm39) E105G probably benign Het
Wdfy4 C A 14: 32,798,241 (GRCm39) C2055F probably damaging Het
Zfat T C 15: 68,052,963 (GRCm39) N277S probably damaging 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
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
R6252:Npas3 UTSW 12 54,115,673 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-12-18