Incidental Mutation 'R5874:Napg'
ID 501934
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 044081-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R5874 (G1)
Quality Score 22
Status Validated
Chromosome 18
Chromosomal Location 63110910-63132521 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 63111091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 18 (K18*)
Ref Sequence ENSEMBL: ENSMUSP00000122681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025474] [ENSMUST00000150267]
AlphaFold Q9CWZ7
Predicted Effect probably null
Transcript: ENSMUST00000025474
AA Change: K18*
SMART Domains Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: K18*

DomainStartEndE-ValueType
Pfam:SNAP 7 261 1e-30 PFAM
low complexity region 294 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137849
Predicted Effect probably null
Transcript: ENSMUST00000150267
AA Change: K18*
SMART Domains Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: K18*

DomainStartEndE-ValueType
Pfam:SNAP 7 195 6.7e-23 PFAM
low complexity region 204 214 N/A INTRINSIC
Meta Mutation Damage Score 0.9666 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 98% (86/88)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,280,610 (GRCm39) noncoding transcript Het
Adam17 T C 12: 21,379,087 (GRCm39) D654G possibly damaging Het
Ankhd1 A T 18: 36,773,322 (GRCm39) H1373L possibly damaging Het
Ankrd17 T C 5: 90,416,656 (GRCm39) probably benign Het
Calu A G 6: 29,372,617 (GRCm39) D112G probably damaging Het
Camk2a G C 18: 61,076,272 (GRCm39) probably benign Het
Cpn1 C A 19: 43,944,951 (GRCm39) R452L probably benign Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cuedc2 C T 19: 46,319,824 (GRCm39) V164M possibly damaging Het
Cyp2d34 T A 15: 82,503,243 (GRCm39) D74V probably benign Het
Ddi2 A G 4: 141,422,780 (GRCm39) S311P probably damaging Het
Ddx10 A C 9: 53,140,498 (GRCm39) I301R possibly damaging Het
Dmpk T C 7: 18,826,007 (GRCm39) probably benign Het
Dnah7b C T 1: 46,230,885 (GRCm39) T1381I probably damaging Het
Dst T A 1: 34,218,670 (GRCm39) N1703K probably damaging Het
Dtwd1 T A 2: 126,000,359 (GRCm39) H98Q probably damaging Het
Ecel1 A C 1: 87,075,731 (GRCm39) V769G probably benign Het
Eno4 T C 19: 58,935,238 (GRCm39) V150A probably benign Het
Evc2 C T 5: 37,574,883 (GRCm39) probably benign Het
Ext1 T A 15: 52,965,148 (GRCm39) Q406L possibly damaging Het
Foxf2 A G 13: 31,810,775 (GRCm39) H238R probably benign Het
Frem2 C G 3: 53,444,910 (GRCm39) G2407A probably benign Het
Fzd10 A G 5: 128,678,364 (GRCm39) E28G probably benign Het
Galnt15 T C 14: 31,774,324 (GRCm39) F363L probably damaging Het
Gm1758 C T 16: 14,325,037 (GRCm39) noncoding transcript Het
Gm5866 C T 5: 52,739,956 (GRCm39) noncoding transcript Het
Heatr9 T A 11: 83,405,426 (GRCm39) M345L probably benign Het
Il23r A T 6: 67,408,629 (GRCm39) F404Y possibly damaging Het
Lrrc8a T C 2: 30,147,148 (GRCm39) I654T probably damaging Het
Ndst3 A T 3: 123,355,556 (GRCm39) W573R probably damaging Het
Nin T C 12: 70,077,692 (GRCm39) S1038G possibly damaging Het
Nudt12 T A 17: 59,317,279 (GRCm39) R123* probably null Het
Oas1g T A 5: 121,015,081 (GRCm39) N361Y probably benign Het
Or5p51 T A 7: 107,444,377 (GRCm39) I188L probably benign Het
Or7a35 T A 10: 78,853,191 (GRCm39) F12I possibly damaging Het
Or8h10 A T 2: 86,808,786 (GRCm39) M118K probably damaging Het
Osbpl10 T C 9: 115,055,828 (GRCm39) F667L probably damaging Het
Phldb2 T C 16: 45,621,988 (GRCm39) D664G probably damaging Het
Piezo2 C T 18: 63,160,972 (GRCm39) V2263M probably damaging Het
Pkd1l1 A G 11: 8,858,688 (GRCm39) L615P probably damaging Het
Pnpla7 G A 2: 24,901,661 (GRCm39) M562I probably benign Het
Pou2af2 A T 9: 51,201,672 (GRCm39) L128* probably null Het
Ppp1r13b C A 12: 111,811,423 (GRCm39) R155L probably damaging Het
Pygb C T 2: 150,628,798 (GRCm39) P4L probably benign Het
Rbm44 T C 1: 91,084,562 (GRCm39) probably null Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rin3 A G 12: 102,356,102 (GRCm39) Y801C probably damaging Het
Rnf112 A G 11: 61,340,273 (GRCm39) V619A probably damaging Het
Rnf182 A G 13: 43,821,563 (GRCm39) E38G probably benign Het
Scgb2b24 T A 7: 33,436,830 (GRCm39) Y94F probably damaging Het
Serac1 C A 17: 6,094,188 (GRCm39) probably benign Het
Shld2 T C 14: 33,967,215 (GRCm39) T114A probably benign Het
Slc6a19 A T 13: 73,832,487 (GRCm39) V402D probably damaging Het
Slco1a8 A T 6: 141,917,961 (GRCm39) H638Q probably benign Het
Slco2b1 T A 7: 99,316,301 (GRCm39) M410L probably benign Het
Smarca2 T C 19: 26,753,469 (GRCm39) probably benign Het
Sned1 A G 1: 93,193,067 (GRCm39) Y409C probably damaging Het
Sorcs2 A G 5: 36,386,555 (GRCm39) V161A probably damaging Het
Spring1 T C 5: 118,397,504 (GRCm39) V162A probably damaging Het
Sptb T C 12: 76,645,501 (GRCm39) E2029G possibly damaging Het
Stx7 T A 10: 24,058,659 (GRCm39) probably null Het
Taf4b T C 18: 14,937,611 (GRCm39) V228A probably benign Het
Tbc1d1 A G 5: 64,507,273 (GRCm39) *1163W probably null Het
Tor4a G A 2: 25,084,847 (GRCm39) A352V probably damaging Het
Trpm4 A G 7: 44,977,173 (GRCm39) F81S probably damaging Het
Ttn T A 2: 76,780,436 (GRCm39) D1105V probably damaging Het
Vcf1 T A 11: 113,568,220 (GRCm39) R78S probably damaging Het
Yju2b T A 8: 84,985,177 (GRCm39) D364V possibly damaging Het
Zfp551 A G 7: 12,150,101 (GRCm39) L436P probably damaging Het
Zfp975 G T 7: 42,312,312 (GRCm39) D100E probably benign Het
Zswim3 A G 2: 164,662,032 (GRCm39) I171V probably benign Het
Zwint C T 10: 72,492,294 (GRCm39) probably benign Het
Other mutations in Napg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Napg APN 18 63,119,516 (GRCm39) missense probably benign 0.21
IGL02728:Napg APN 18 63,127,375 (GRCm39) splice site probably benign
IGL02742:Napg APN 18 63,119,319 (GRCm39) missense probably damaging 0.99
R0276:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0277:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0323:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0325:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0751:Napg UTSW 18 63,127,409 (GRCm39) missense probably benign 0.04
R0988:Napg UTSW 18 63,116,431 (GRCm39) splice site probably benign
R1184:Napg UTSW 18 63,127,409 (GRCm39) missense probably benign 0.04
R1387:Napg UTSW 18 63,119,283 (GRCm39) missense possibly damaging 0.50
R1678:Napg UTSW 18 63,117,143 (GRCm39) critical splice donor site probably null
R1779:Napg UTSW 18 63,115,762 (GRCm39) missense probably benign 0.33
R4723:Napg UTSW 18 63,125,563 (GRCm39) critical splice donor site probably null
R5848:Napg UTSW 18 63,127,440 (GRCm39) missense possibly damaging 0.49
R5973:Napg UTSW 18 63,128,054 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GGAAGTTTGAGTCCTTCGCTTC -3'
(R):5'- CTGGCTGTCATGAAGAGGAGAC -3'

Sequencing Primer
(F):5'- GAGTCCTTCGCTTCCCGTAG -3'
(R):5'- GCAGACCTGGATGTCACAG -3'
Posted On 2018-01-08