Incidental Mutation 'R0782:Napa'
ID 76684
Institutional Source Beutler Lab
Gene Symbol Napa
Ensembl Gene ENSMUSG00000006024
Gene Name N-ethylmaleimide sensitive fusion protein attachment protein alpha
Synonyms a-SNAP, SNAPA, RA81, hyh, 1500039N14Rik, SNARE
MMRRC Submission 038962-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0782 (G1)
Quality Score 92
Status Validated
Chromosome 7
Chromosomal Location 15832383-15851900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15849192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 244 (M244T)
Ref Sequence ENSEMBL: ENSMUSP00000006181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006178] [ENSMUST00000006181] [ENSMUST00000127637]
AlphaFold Q9DB05
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
AA Change: M244T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024
AA Change: M244T

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: ENSMUST00000152044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150208
Meta Mutation Damage Score 0.0921 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.3%
Validation Efficiency 100% (39/39)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 C T 11: 97,391,380 (GRCm39) P1299L possibly damaging Het
B3glct C T 5: 149,650,275 (GRCm39) T126M probably damaging Het
Baz1a A T 12: 54,941,273 (GRCm39) D1492E probably damaging Het
Cdc14a A G 3: 116,115,785 (GRCm39) I259T probably damaging Het
Cog7 C A 7: 121,543,020 (GRCm39) A464S possibly damaging Het
Csf2rb2 C A 15: 78,170,951 (GRCm39) K368N probably damaging Het
Cspp1 T A 1: 10,200,199 (GRCm39) probably benign Het
Cyp2c37 A G 19: 39,982,269 (GRCm39) H90R probably benign Het
Dcst1 A G 3: 89,264,807 (GRCm39) F314L possibly damaging Het
Dhx36 A T 3: 62,414,135 (GRCm39) probably benign Het
Efr3b G A 12: 4,034,686 (GRCm39) probably benign Het
Faap100 A G 11: 120,267,530 (GRCm39) probably null Het
Hmcn1 A G 1: 150,629,416 (GRCm39) I947T possibly damaging Het
Ilkap C T 1: 91,306,272 (GRCm39) R103H probably damaging Het
Impa1 A T 3: 10,387,956 (GRCm39) probably benign Het
Kbtbd8 C T 6: 95,099,213 (GRCm39) R164C probably damaging Het
Lactb2 T G 1: 13,717,675 (GRCm39) N116T probably benign Het
Myh8 T A 11: 67,180,580 (GRCm39) N605K probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nckap5 G A 1: 125,909,278 (GRCm39) S1719F probably damaging Het
Nfe2l2 T C 2: 75,507,177 (GRCm39) I308V probably benign Het
Or51af1 C A 7: 103,141,722 (GRCm39) R121L probably damaging Het
Ppfia2 C T 10: 106,763,592 (GRCm39) S1195L probably benign Het
Rasa4 A G 5: 136,133,386 (GRCm39) K615R possibly damaging Het
Rnf216 T C 5: 143,054,647 (GRCm39) K634E possibly damaging Het
Samd3 A G 10: 26,146,138 (GRCm39) T388A probably damaging Het
Serping1 G A 2: 84,597,790 (GRCm39) P364S probably damaging Het
Slc39a10 T C 1: 46,875,156 (GRCm39) S49G probably damaging Het
Smc2 C A 4: 52,469,799 (GRCm39) T762K probably benign Het
Smpd1 T A 7: 105,204,550 (GRCm39) V143E possibly damaging Het
Synj2bp A T 12: 81,579,507 (GRCm39) L16Q probably damaging Het
Tcof1 G A 18: 60,949,352 (GRCm39) R1188W probably damaging Het
Unc80 A G 1: 66,661,740 (GRCm39) R1722G possibly damaging Het
Vamp5 T C 6: 72,346,453 (GRCm39) S48G probably damaging Het
Vps13d G A 4: 144,853,195 (GRCm39) probably benign Het
Zfp292 T C 4: 34,839,382 (GRCm39) N161S possibly damaging Het
Zfp831 A G 2: 174,488,423 (GRCm39) T1033A probably benign Het
Other mutations in Napa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Napa APN 7 15,832,669 (GRCm39) missense possibly damaging 0.66
IGL02383:Napa APN 7 15,846,503 (GRCm39) splice site probably benign
IGL02968:Napa APN 7 15,847,266 (GRCm39) splice site probably benign
R2067:Napa UTSW 7 15,849,203 (GRCm39) unclassified probably benign
R2115:Napa UTSW 7 15,848,134 (GRCm39) missense possibly damaging 0.91
R2360:Napa UTSW 7 15,848,083 (GRCm39) missense probably damaging 1.00
R4762:Napa UTSW 7 15,849,196 (GRCm39) missense probably benign 0.22
R5386:Napa UTSW 7 15,850,397 (GRCm39) missense probably benign 0.01
R5503:Napa UTSW 7 15,849,549 (GRCm39) missense probably benign 0.07
R6335:Napa UTSW 7 15,849,562 (GRCm39) missense probably benign 0.01
R6939:Napa UTSW 7 15,849,182 (GRCm39) missense possibly damaging 0.94
R6961:Napa UTSW 7 15,843,034 (GRCm39) nonsense probably null
R7841:Napa UTSW 7 15,849,559 (GRCm39) missense possibly damaging 0.94
R8809:Napa UTSW 7 15,846,551 (GRCm39) missense possibly damaging 0.46
X0025:Napa UTSW 7 15,849,137 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCGTCAAATCAGAACTGCCAGC -3'
(R):5'- TGCAAACAGGGTCAGAGTCAGC -3'

Sequencing Primer
(F):5'- AGAACTGCCAGCCGGTG -3'
(R):5'- CAGACCCAGCAGATGTTGTG -3'
Posted On 2013-10-16