Incidental Mutation 'R1184:Napg'
ID 101994
Institutional Source Beutler Lab
Gene Symbol Napg
Ensembl Gene ENSMUSG00000024581
Gene Name N-ethylmaleimide sensitive fusion protein attachment protein gamma
Synonyms 2400003O04Rik, SNARE
MMRRC Submission 039256-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R1184 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 62977836-62999450 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 62994338 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 204 (H204Q)
Ref Sequence ENSEMBL: ENSMUSP00000025474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025474] [ENSMUST00000150267]
AlphaFold Q9CWZ7
Predicted Effect probably benign
Transcript: ENSMUST00000025474
AA Change: H204Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: H204Q

Pfam:SNAP 7 261 1e-30 PFAM
low complexity region 294 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124837
Predicted Effect probably benign
Transcript: ENSMUST00000150267
AA Change: H254Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: H254Q

Pfam:SNAP 7 195 6.7e-23 PFAM
low complexity region 204 214 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155440
Meta Mutation Damage Score 0.0749 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 100% (83/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,160,912 (GRCm38) R7G probably damaging Het
Ahdc1 T A 4: 133,065,396 (GRCm38) M1316K probably benign Het
Alkal1 A G 1: 6,389,488 (GRCm38) Y96C probably damaging Het
Anxa2r1 A T 13: 120,035,131 (GRCm38) N67K probably benign Het
Arhgap17 T C 7: 123,314,690 (GRCm38) Y199C probably damaging Het
Bmp2 T C 2: 133,561,468 (GRCm38) V313A probably damaging Het
Cacna1b C T 2: 24,687,745 (GRCm38) probably null Het
Cars1 T C 7: 143,587,139 (GRCm38) T141A probably damaging Het
Ccdc57 A G 11: 120,873,811 (GRCm38) probably benign Het
Cenpe T C 3: 135,264,422 (GRCm38) probably null Het
Chadl T C 15: 81,693,057 (GRCm38) S198G probably benign Het
Chd6 G C 2: 161,030,802 (GRCm38) P286R probably damaging Het
Clec4a4 G T 6: 123,012,712 (GRCm38) W104L probably benign Het
Coq4 G A 2: 29,788,334 (GRCm38) probably benign Het
Cplane1 G T 15: 8,216,487 (GRCm38) V1448L probably benign Het
Crtc2 T A 3: 90,262,633 (GRCm38) Y445* probably null Het
Dapk1 A T 13: 60,696,298 (GRCm38) I44F probably damaging Het
Dcbld2 T A 16: 58,449,841 (GRCm38) probably null Het
Dcun1d4 T C 5: 73,511,112 (GRCm38) probably benign Het
Depdc7 A T 2: 104,730,178 (GRCm38) probably benign Het
Dna2 A G 10: 62,959,198 (GRCm38) D416G probably benign Het
Dnah2 A T 11: 69,499,190 (GRCm38) I743N probably damaging Het
Dnah9 A G 11: 66,084,612 (GRCm38) probably null Het
Dock3 A G 9: 106,969,800 (GRCm38) S877P probably damaging Het
Eif3l T A 15: 79,075,766 (GRCm38) probably null Het
Epha5 A T 5: 84,071,275 (GRCm38) probably null Het
Ffar3 T A 7: 30,855,104 (GRCm38) N264Y probably damaging Het
Fyb1 A T 15: 6,638,900 (GRCm38) I525F probably damaging Het
Fyco1 A G 9: 123,819,153 (GRCm38) F1239L probably damaging Het
Gcdh T C 8: 84,893,442 (GRCm38) probably benign Het
Gk5 T C 9: 96,150,420 (GRCm38) probably benign Het
Grm1 A G 10: 10,720,034 (GRCm38) Y617H probably benign Het
Gvin-ps3 A G 7: 106,083,952 (GRCm38) V32A probably benign Het
Hhipl2 A T 1: 183,425,134 (GRCm38) I131L probably damaging Het
Larp4b T C 13: 9,166,309 (GRCm38) probably benign Het
Lrig2 T A 3: 104,490,911 (GRCm38) I301F possibly damaging Het
Man2a2 A T 7: 80,362,965 (GRCm38) I600N possibly damaging Het
Mylk2 G C 2: 152,913,741 (GRCm38) probably null Het
Myo6 C T 9: 80,286,382 (GRCm38) Q870* probably null Het
Neb G A 2: 52,263,947 (GRCm38) T2384M probably damaging Het
Nek10 A G 14: 14,931,325 (GRCm38) probably benign Het
Or11h23 A C 14: 50,710,614 (GRCm38) T95P probably benign Het
Or4c111 A G 2: 89,013,713 (GRCm38) M117T probably damaging Het
Or5an6 T C 19: 12,394,857 (GRCm38) V198A probably benign Het
Or5b108 T G 19: 13,191,375 (GRCm38) L236R probably damaging Het
Pclo A G 5: 14,522,262 (GRCm38) T554A unknown Het
Perm1 C A 4: 156,217,314 (GRCm38) T105K probably damaging Het
Pik3r1 T C 13: 101,686,358 (GRCm38) probably null Het
Pld5 A G 1: 176,044,896 (GRCm38) I225T probably damaging Het
Plxnc1 T C 10: 94,831,333 (GRCm38) probably benign Het
Ptpn12 A C 5: 20,998,356 (GRCm38) S475A possibly damaging Het
Ptprt A G 2: 161,927,772 (GRCm38) V391A possibly damaging Het
Rac2 T G 15: 78,565,945 (GRCm38) D65A possibly damaging Het
Rgl3 A G 9: 21,977,380 (GRCm38) probably null Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Sebox A T 11: 78,503,849 (GRCm38) T47S probably damaging Het
Sema4b A G 7: 80,224,640 (GRCm38) T593A probably benign Het
Serpina3a C T 12: 104,116,528 (GRCm38) Q187* probably null Het
Serpinb1a T C 13: 32,843,216 (GRCm38) K248E probably benign Het
Serpinb9e A C 13: 33,259,774 (GRCm38) E259A probably benign Het
Slc30a3 T A 5: 31,090,166 (GRCm38) H44L probably damaging Het
Smarca2 T C 19: 26,770,933 (GRCm38) probably benign Het
Snrnp200 T A 2: 127,236,817 (GRCm38) C1801S probably damaging Het
Soat1 G A 1: 156,442,374 (GRCm38) probably null Het
Spink6 T C 18: 44,071,538 (GRCm38) probably benign Het
Spta1 G A 1: 174,184,690 (GRCm38) R354H probably damaging Het
Tbck T A 3: 132,837,972 (GRCm38) H861Q probably benign Het
Tgfbrap1 G A 1: 43,049,696 (GRCm38) T849M possibly damaging Het
Tnrc6a A G 7: 123,170,340 (GRCm38) N451S possibly damaging Het
Trim36 T C 18: 46,196,251 (GRCm38) T41A probably damaging Het
Trmt112 C A 19: 6,910,353 (GRCm38) probably benign Het
Trpc4ap A G 2: 155,645,070 (GRCm38) probably benign Het
Ttll7 C T 3: 146,939,991 (GRCm38) P535S probably damaging Het
Ttn A T 2: 76,861,432 (GRCm38) probably benign Het
Txndc11 C T 16: 11,128,500 (GRCm38) R149Q probably benign Het
Ubr4 C T 4: 139,437,198 (GRCm38) probably benign Het
Usp30 G A 5: 114,103,827 (GRCm38) probably null Het
Vmn1r195 A G 13: 22,279,011 (GRCm38) Y217C probably damaging Het
Vps33b T A 7: 80,282,486 (GRCm38) D135E probably benign Het
Vrk2 A G 11: 26,483,331 (GRCm38) probably benign Het
Wdr81 G T 11: 75,452,983 (GRCm38) P486Q probably damaging Het
Zfp788 T C 7: 41,648,326 (GRCm38) Y129H probably damaging Het
Other mutations in Napg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Napg APN 18 62,986,445 (GRCm38) missense probably benign 0.21
IGL02728:Napg APN 18 62,994,304 (GRCm38) splice site probably benign
IGL02742:Napg APN 18 62,986,248 (GRCm38) missense probably damaging 0.99
R0276:Napg UTSW 18 62,986,963 (GRCm38) missense probably damaging 1.00
R0277:Napg UTSW 18 62,986,963 (GRCm38) missense probably damaging 1.00
R0323:Napg UTSW 18 62,986,963 (GRCm38) missense probably damaging 1.00
R0325:Napg UTSW 18 62,986,963 (GRCm38) missense probably damaging 1.00
R0751:Napg UTSW 18 62,994,338 (GRCm38) missense probably benign 0.04
R0988:Napg UTSW 18 62,983,360 (GRCm38) splice site probably benign
R1387:Napg UTSW 18 62,986,212 (GRCm38) missense possibly damaging 0.50
R1678:Napg UTSW 18 62,984,072 (GRCm38) critical splice donor site probably null
R1779:Napg UTSW 18 62,982,691 (GRCm38) missense probably benign 0.33
R4723:Napg UTSW 18 62,992,492 (GRCm38) critical splice donor site probably null
R5848:Napg UTSW 18 62,994,369 (GRCm38) missense possibly damaging 0.49
R5874:Napg UTSW 18 62,978,020 (GRCm38) nonsense probably null
R5973:Napg UTSW 18 62,994,983 (GRCm38) missense possibly damaging 0.93
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-15