Incidental Mutation 'R2067:Napa'
ID226763
Institutional Source Beutler Lab
Gene Symbol Napa
Ensembl Gene ENSMUSG00000006024
Gene NameN-ethylmaleimide sensitive fusion protein attachment protein alpha
SynonymsSNAPA, SNARE, 1500039N14Rik, a-SNAP, RA81, hyh
MMRRC Submission 040072-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2067 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location16098458-16117975 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 16115278 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006178] [ENSMUST00000006181] [ENSMUST00000127637]
Predicted Effect probably benign
Transcript: ENSMUST00000006178
SMART Domains Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021

DomainStartEndE-ValueType
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000006181
SMART Domains Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024

DomainStartEndE-ValueType
Pfam:SNAP 8 288 4.5e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124563
Predicted Effect probably benign
Transcript: ENSMUST00000127637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152044
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (76/78)
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 soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: The homozygous null mutation is embryonic lethal while partial loss of function homozygous mutants develop hydrocephalus and die postnatally. These mutants also display central nervous system abnormalities and impaired motor capabilities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,689,322 probably benign Het
Abca2 A T 2: 25,437,505 I669F possibly damaging Het
Acin1 T A 14: 54,665,254 Q360H probably damaging Het
Aldh3b1 T A 19: 3,921,755 D72V probably benign Het
Alox12e G A 11: 70,316,002 R620W probably damaging Het
Alpl T C 4: 137,749,545 probably benign Het
Amy2a1 T C 3: 113,530,568 I108V probably benign Het
Ascc2 A T 11: 4,681,496 M646L probably benign Het
Bod1l G A 5: 41,817,086 T2295M probably benign Het
Ccdc9 A T 7: 16,278,550 probably null Het
Clptm1l C T 13: 73,607,723 Q153* probably null Het
Csmd1 A G 8: 15,900,782 S3476P probably benign Het
Ddias A T 7: 92,859,699 M336K possibly damaging Het
Ehd1 T C 19: 6,298,078 L362P probably benign Het
Epha1 G T 6: 42,366,053 H187Q probably benign Het
Espl1 T C 15: 102,299,090 S330P probably damaging Het
Fbln7 G T 2: 128,877,466 R61L probably damaging Het
Fbxo41 C T 6: 85,478,471 W577* probably null Het
Fgb C A 3: 83,049,689 D25Y probably benign Het
Gc T A 5: 89,446,517 K37N probably damaging Het
Gfpt1 T C 6: 87,057,754 I178T probably benign Het
Gm12695 T C 4: 96,769,726 T69A probably benign Het
Gm3944 C A 12: 18,853,894 S8* probably null Het
Gm9912 T C 3: 149,185,159 T113A unknown Het
Gpr156 A G 16: 37,978,751 D109G probably benign Het
Hoxd1 A T 2: 74,763,366 T89S probably benign Het
Htt C T 5: 34,825,982 T975I probably benign Het
Itpr3 G A 17: 27,098,076 M768I probably benign Het
Krt4 C A 15: 101,924,664 A3S possibly damaging Het
Mrto4 T C 4: 139,349,023 K86E probably benign Het
Mup4 T A 4: 59,960,622 probably benign Het
Myh1 G A 11: 67,214,620 D1079N possibly damaging Het
Myo1a A G 10: 127,705,478 N43D probably benign Het
Ndufa12 A G 10: 94,220,707 D99G probably damaging Het
Neb A G 2: 52,284,263 I1528T probably benign Het
Nek1 T C 8: 61,007,162 S41P probably damaging Het
Nolc1 C T 19: 46,083,607 T612M probably damaging Het
Nsun5 T G 5: 135,375,072 Y301D probably damaging Het
Oas1g T C 5: 120,885,883 E121G probably damaging Het
Olfr1085 G T 2: 86,658,437 T7K probably damaging Het
Olfr1170 A G 2: 88,224,474 V186A possibly damaging Het
Olfr324 A G 11: 58,597,570 N58S probably damaging Het
Olfr397 A G 11: 73,964,914 Y102C probably damaging Het
Olfr522 T A 7: 140,162,909 I14F possibly damaging Het
Olfr910 T A 9: 38,539,280 N128K probably benign Het
Osmr T C 15: 6,815,415 N957D probably benign Het
Parn G A 16: 13,603,069 S473L probably damaging Het
Phc2 T C 4: 128,747,136 F672S probably damaging Het
Pik3c2b T C 1: 133,099,611 S1283P probably damaging Het
Pole2 G A 12: 69,228,152 R5W probably benign Het
Prl7a2 T A 13: 27,660,887 Y172F probably damaging Het
Ptprz1 A G 6: 23,050,389 probably benign Het
Rapgef3 C A 15: 97,766,961 G7V probably damaging Het
Ripor1 T A 8: 105,617,708 S491R probably benign Het
Rnf141 A G 7: 110,821,365 probably benign Het
Ryr3 C T 2: 112,946,957 R285Q probably damaging Het
Sall4 T C 2: 168,756,545 N125S probably benign Het
Schip1 A G 3: 68,617,786 K360R probably damaging Het
Senp6 T A 9: 80,089,869 V55E probably benign Het
Skint1 T A 4: 112,025,533 V258D probably benign Het
Slc25a16 T A 10: 62,932,751 H130Q probably benign Het
Styx T C 14: 45,373,563 V217A probably benign Het
Syne2 G A 12: 75,888,342 probably null Het
Tagap1 A G 17: 6,956,860 S146P probably benign Het
Tatdn2 A G 6: 113,704,142 K379E probably benign Het
Thrap3 T C 4: 126,175,396 Y654C possibly damaging Het
Tle2 T C 10: 81,580,551 L135P probably damaging Het
Tmc1 A G 19: 20,824,309 F451S possibly damaging Het
Trpm7 G A 2: 126,797,727 P1650S probably damaging Het
Ttll4 G A 1: 74,680,382 R16H possibly damaging Het
Ttn T C 2: 76,714,373 N32795S probably damaging Het
Tubgcp6 T C 15: 89,104,489 E803G probably benign Het
Ubr2 A G 17: 46,963,145 probably null Het
Ugt2b35 A G 5: 87,001,553 D221G probably damaging Het
Unc45b G A 11: 82,911,689 A4T probably benign Het
Vmn1r70 A T 7: 10,634,337 I251F possibly damaging Het
Vmn2r120 T A 17: 57,524,553 H412L possibly damaging Het
Zfp59 A G 7: 27,853,510 N129S probably benign Het
Zgrf1 T C 3: 127,613,350 C1589R probably damaging Het
Other mutations in Napa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Napa APN 7 16098744 missense possibly damaging 0.66
IGL02383:Napa APN 7 16112578 splice site probably benign
IGL02968:Napa APN 7 16113341 splice site probably benign
R0782:Napa UTSW 7 16115267 missense probably benign 0.00
R2115:Napa UTSW 7 16114209 missense possibly damaging 0.91
R2360:Napa UTSW 7 16114158 missense probably damaging 1.00
R4762:Napa UTSW 7 16115271 missense probably benign 0.22
R5386:Napa UTSW 7 16116472 missense probably benign 0.01
R5503:Napa UTSW 7 16115624 missense probably benign 0.07
R6335:Napa UTSW 7 16115637 missense probably benign 0.01
R6939:Napa UTSW 7 16115257 missense possibly damaging 0.94
X0025:Napa UTSW 7 16115212 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCAGTAGGCTCTTTTGCATCC -3'
(R):5'- GGTCCCTGCGTTAACTGTAC -3'

Sequencing Primer
(F):5'- ATGCCTGGAAAGCCTGC -3'
(R):5'- ACTTGTTTCAGGTAGAGAACTGAGC -3'
Posted On2014-09-17