Incidental Mutation 'R9653:Npas1'
ID 727181
Institutional Source Beutler Lab
Gene Symbol Npas1
Ensembl Gene ENSMUSG00000001988
Gene Name neuronal PAS domain protein 1
Synonyms MOP5, bHLHe11
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R9653 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 16189643-16210741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16190146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 467 (I467V)
Ref Sequence ENSEMBL: ENSMUSP00000147412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002053] [ENSMUST00000019302] [ENSMUST00000209536] [ENSMUST00000210748]
AlphaFold P97459
Predicted Effect probably benign
Transcript: ENSMUST00000002053
AA Change: I467V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: I467V

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
HLH 51 106 1.44e-6 SMART
low complexity region 109 128 N/A INTRINSIC
PAS 137 203 1.09e-11 SMART
low complexity region 212 223 N/A INTRINSIC
low complexity region 275 288 N/A INTRINSIC
PAS 294 360 5.32e-6 SMART
PAC 366 409 5.64e0 SMART
low complexity region 428 443 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
low complexity region 574 587 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019302
SMART Domains Protein: ENSMUSP00000019302
Gene: ENSMUSG00000019158

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209536
Predicted Effect probably benign
Transcript: ENSMUST00000210748
AA Change: I467V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,243,741 (GRCm39) P1868L probably benign Het
Abcc1 T C 16: 14,214,257 (GRCm39) Y191H probably damaging Het
Adamtsl5 C T 10: 80,180,763 (GRCm39) G100R probably damaging Het
Adgrg5 C T 8: 95,663,864 (GRCm39) P235S Het
Anks1b T G 10: 90,346,524 (GRCm39) L608R probably damaging Het
Ano10 C G 9: 122,080,221 (GRCm39) A597P possibly damaging Het
Calb2 T C 8: 110,881,374 (GRCm39) M58V probably benign Het
Ccdc180 T C 4: 45,923,495 (GRCm39) I1092T probably damaging Het
Ces3b G T 8: 105,812,257 (GRCm39) A169S probably damaging Het
Chmp2a A T 7: 12,766,456 (GRCm39) F129I probably damaging Het
Clasp2 T A 9: 113,670,993 (GRCm39) W365R probably benign Het
Col12a1 T C 9: 79,584,556 (GRCm39) K1344R probably benign Het
Col3a1 A G 1: 45,360,728 (GRCm39) I53V unknown Het
Coro2b T C 9: 62,335,259 (GRCm39) Y309C probably damaging Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Crygs T A 16: 22,625,304 (GRCm39) T46S probably benign Het
Ctbp2 C G 7: 132,615,933 (GRCm39) R334P probably damaging Het
Dcstamp A T 15: 39,623,792 (GRCm39) D469V probably benign Het
Dhdh T C 7: 45,128,551 (GRCm39) D209G probably damaging Het
Dnah7b T C 1: 46,252,544 (GRCm39) V1742A possibly damaging Het
Dnaja2 T C 8: 86,265,982 (GRCm39) T368A probably benign Het
Dscaml1 T C 9: 45,643,466 (GRCm39) probably null Het
Eps8l1 A T 7: 4,481,886 (GRCm39) K704M unknown Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fgd4 T A 16: 16,254,461 (GRCm39) H524L probably benign Het
Fktn T A 4: 53,731,273 (GRCm39) F103I probably benign Het
Gcc2 T C 10: 58,110,822 (GRCm39) M1001T possibly damaging Het
Gm4847 T C 1: 166,467,582 (GRCm39) S205G possibly damaging Het
Grid2 A T 6: 63,907,968 (GRCm39) N203Y possibly damaging Het
Hif3a G A 7: 16,782,641 (GRCm39) A308V probably damaging Het
Htr5a A G 5: 28,047,838 (GRCm39) N131S possibly damaging Het
Igfn1 G A 1: 135,883,323 (GRCm39) Q2728* probably null Het
Ighv5-16 C A 12: 113,802,313 (GRCm39) K62N possibly damaging Het
Ip6k3 A T 17: 27,367,588 (GRCm39) Y203N possibly damaging Het
Itga2 G A 13: 115,020,991 (GRCm39) P120L probably benign Het
Itpkb G T 1: 180,160,056 (GRCm39) E61* probably null Het
Kcnj3 G A 2: 55,484,864 (GRCm39) V321M probably damaging Het
Kmt2c A G 5: 25,507,819 (GRCm39) L3206P probably damaging Het
Krtap5-4 T C 7: 141,857,908 (GRCm39) C193R unknown Het
Large1 G T 8: 73,564,106 (GRCm39) H553Q probably benign Het
Lrfn5 T A 12: 61,890,418 (GRCm39) V569D probably damaging Het
Luzp2 A G 7: 54,702,580 (GRCm39) T48A probably damaging Het
Lypd6 A T 2: 50,080,758 (GRCm39) T149S probably benign Het
Map3k1 T C 13: 111,890,296 (GRCm39) N1301S possibly damaging Het
Ndufv2 C T 17: 66,396,251 (GRCm39) W91* probably null Het
Nisch A T 14: 30,893,628 (GRCm39) V1315E probably damaging Het
Nucb1 A G 7: 45,144,202 (GRCm39) M337T probably benign Het
Oog3 T G 4: 143,884,489 (GRCm39) R482S probably benign Het
Or10d4b T C 9: 39,535,154 (GRCm39) L243P probably damaging Het
Or4f14c A T 2: 111,941,261 (GRCm39) M112K probably damaging Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Or56a42-ps1 A T 7: 104,775,985 (GRCm39) N164K probably benign Het
Padi2 T C 4: 140,662,036 (GRCm39) probably null Het
Pam C T 1: 97,768,469 (GRCm39) V660M possibly damaging Het
Phc2 C T 4: 128,641,012 (GRCm39) L700F probably damaging Het
Plekha1 T C 7: 130,479,494 (GRCm39) V4A possibly damaging Het
Rai1 A G 11: 60,080,142 (GRCm39) E1402G probably benign Het
Recql5 G A 11: 115,788,032 (GRCm39) A429V probably benign Het
Rere A G 4: 150,516,010 (GRCm39) N101S probably benign Het
Robo1 T G 16: 72,821,330 (GRCm39) S1357A possibly damaging Het
Rsl1 T A 13: 67,330,106 (GRCm39) Y185N probably damaging Het
Rsph3a T C 17: 8,165,074 (GRCm39) S145P possibly damaging Het
Sall1 T C 8: 89,757,506 (GRCm39) E866G probably damaging Het
Sall3 A T 18: 81,016,228 (GRCm39) S567T probably benign Het
Sap30 G A 8: 57,938,156 (GRCm39) Q154* probably null Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Scn8a A G 15: 100,937,947 (GRCm39) E1772G probably damaging Het
Scube3 C T 17: 28,375,772 (GRCm39) A169V probably damaging Het
Sema6c T C 3: 95,080,525 (GRCm39) S940P probably benign Het
Sertad4 C T 1: 192,528,836 (GRCm39) D327N probably damaging Het
Shisal2b A G 13: 105,000,296 (GRCm39) probably benign Het
Skp1 A G 11: 52,134,514 (GRCm39) T82A possibly damaging Het
Slc39a14 G T 14: 70,547,248 (GRCm39) T366K probably damaging Het
Snrnp200 G T 2: 127,067,959 (GRCm39) V819L probably damaging Het
Sntg1 T A 1: 8,433,749 (GRCm39) T501S unknown Het
Srsf12 T C 4: 33,231,249 (GRCm39) S253P possibly damaging Het
Sycp2l A G 13: 41,295,381 (GRCm39) S315G probably benign Het
Tars2 T C 3: 95,655,379 (GRCm39) Y337C probably damaging Het
Thbs4 T C 13: 92,898,022 (GRCm39) D599G probably benign Het
Tmem200c A G 17: 69,149,181 (GRCm39) H588R probably benign Het
Tmem255b T A 8: 13,506,005 (GRCm39) V204E probably damaging Het
Usp24 T A 4: 106,204,564 (GRCm39) M261K probably benign Het
Utrn T A 10: 12,497,123 (GRCm39) I2429F probably benign Het
Utrn C T 10: 12,539,189 (GRCm39) A1943T probably benign Het
Vmn2r85 A T 10: 130,261,694 (GRCm39) D214E probably damaging Het
Wdr81 G T 11: 75,340,213 (GRCm39) P183T Het
Zfp28 G A 7: 6,395,623 (GRCm39) R134H Het
Zfp532 T A 18: 65,756,308 (GRCm39) D80E possibly damaging Het
Zfyve26 T C 12: 79,334,418 (GRCm39) D200G probably benign Het
Other mutations in Npas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Npas1 APN 7 16,197,247 (GRCm39) missense probably benign 0.05
IGL01627:Npas1 APN 7 16,199,111 (GRCm39) missense probably damaging 1.00
IGL02812:Npas1 APN 7 16,190,041 (GRCm39) missense probably damaging 1.00
IGL03141:Npas1 APN 7 16,199,063 (GRCm39) missense probably damaging 1.00
D4043:Npas1 UTSW 7 16,197,169 (GRCm39) splice site probably null
H8786:Npas1 UTSW 7 16,195,275 (GRCm39) missense possibly damaging 0.51
R0218:Npas1 UTSW 7 16,195,818 (GRCm39) missense probably benign 0.39
R1736:Npas1 UTSW 7 16,208,541 (GRCm39) missense probably benign 0.24
R1795:Npas1 UTSW 7 16,208,725 (GRCm39) missense probably damaging 1.00
R2093:Npas1 UTSW 7 16,193,202 (GRCm39) missense probably benign
R2570:Npas1 UTSW 7 16,208,628 (GRCm39) missense probably damaging 1.00
R4057:Npas1 UTSW 7 16,208,712 (GRCm39) missense probably damaging 1.00
R4385:Npas1 UTSW 7 16,193,110 (GRCm39) critical splice donor site probably null
R5937:Npas1 UTSW 7 16,197,187 (GRCm39) missense probably benign 0.15
R6456:Npas1 UTSW 7 16,195,851 (GRCm39) missense probably benign 0.44
R7195:Npas1 UTSW 7 16,208,733 (GRCm39) missense probably damaging 1.00
R7544:Npas1 UTSW 7 16,194,899 (GRCm39) splice site probably null
R8221:Npas1 UTSW 7 16,189,890 (GRCm39) missense probably damaging 1.00
R8393:Npas1 UTSW 7 16,195,266 (GRCm39) missense probably damaging 1.00
R9158:Npas1 UTSW 7 16,195,333 (GRCm39) missense possibly damaging 0.53
R9382:Npas1 UTSW 7 16,190,231 (GRCm39) critical splice acceptor site probably null
Z1177:Npas1 UTSW 7 16,196,178 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTCTCCGGGAGTTGTCAAG -3'
(R):5'- AGTGTTGATGTTCACCTCCATAC -3'

Sequencing Primer
(F):5'- AGTTGTCAAGCCCCACG -3'
(R):5'- AATCTGGCTCAACTGTAGGC -3'
Posted On 2022-10-06