Incidental Mutation 'R0276:Napg'
ID 35427
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 038498-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R0276 (G1)
Quality Score 121
Status Validated
Chromosome 18
Chromosomal Location 62977836-62999450 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62986963 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 149 (R149C)
Ref Sequence ENSEMBL: ENSMUSP00000122681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025474] [ENSMUST00000150267]
AlphaFold Q9CWZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000025474
AA Change: R149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: R149C

Pfam:SNAP 7 261 1e-30 PFAM
low complexity region 294 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137849
Predicted Effect probably damaging
Transcript: ENSMUST00000150267
AA Change: R149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: R149C

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 0.4274 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.2%
  • 20x: 93.8%
Validation Efficiency 98% (101/103)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,975,760 (GRCm38) N109S possibly damaging Het
Adcy10 T A 1: 165,572,591 (GRCm38) M1523K possibly damaging Het
Agtpbp1 C T 13: 59,462,031 (GRCm38) S1095N possibly damaging Het
Ang2 C T 14: 51,195,518 (GRCm38) V136I probably damaging Het
Arhgap10 A T 8: 77,413,581 (GRCm38) M250K probably benign Het
Arhgap33 A T 7: 30,523,244 (GRCm38) W1088R probably benign Het
Arhgef15 T C 11: 68,953,472 (GRCm38) probably benign Het
Aspm T C 1: 139,478,471 (GRCm38) S1699P possibly damaging Het
Atp12a C A 14: 56,387,694 (GRCm38) D1014E probably damaging Het
Atp1a4 T A 1: 172,257,901 (GRCm38) K45M probably damaging Het
Atp8a1 A T 5: 67,786,673 (GRCm38) probably benign Het
Baiap3 A C 17: 25,243,687 (GRCm38) F1099C probably damaging Het
Bcas3 T A 11: 85,470,837 (GRCm38) probably null Het
Bms1 G A 6: 118,408,134 (GRCm38) T371M possibly damaging Het
Camta1 C A 4: 151,075,140 (GRCm38) R1614L probably damaging Het
Capn3 T C 2: 120,488,065 (GRCm38) probably benign Het
Ccdc180 A G 4: 45,923,534 (GRCm38) D1105G probably damaging Het
Ccdc33 G T 9: 58,058,392 (GRCm38) P364Q probably damaging Het
Clstn3 A G 6: 124,431,740 (GRCm38) probably benign Het
Cntrl A T 2: 35,151,732 (GRCm38) Y619F possibly damaging Het
Col12a1 A T 9: 79,630,741 (GRCm38) Y2514* probably null Het
Cpt1b T C 15: 89,419,959 (GRCm38) H503R probably benign Het
Crb1 T A 1: 139,323,335 (GRCm38) T293S possibly damaging Het
D130043K22Rik C T 13: 24,858,045 (GRCm38) T319I possibly damaging Het
Dnaaf10 T C 11: 17,229,821 (GRCm38) I274T probably benign Het
Dzip1l G A 9: 99,660,998 (GRCm38) R502Q probably benign Het
Efcab5 G A 11: 77,140,923 (GRCm38) R42W probably damaging Het
Efcab5 A G 11: 77,129,876 (GRCm38) M673T probably damaging Het
F2rl3 A G 8: 72,762,798 (GRCm38) T218A probably benign Het
Fam135a C T 1: 24,067,964 (GRCm38) R31H probably damaging Het
Fcer2a A T 8: 3,689,811 (GRCm38) N53K possibly damaging Het
Golgb1 A C 16: 36,913,876 (GRCm38) K1162Q probably damaging Het
Gpr137b A T 13: 13,367,575 (GRCm38) probably benign Het
Haspin A T 11: 73,136,487 (GRCm38) L592Q probably damaging Het
Helq A G 5: 100,790,147 (GRCm38) F478L probably damaging Het
Iho1 A T 9: 108,428,440 (GRCm38) M11K possibly damaging Het
Il17rb T A 14: 30,004,380 (GRCm38) T84S probably damaging Het
Itga4 T C 2: 79,321,493 (GRCm38) L880P probably damaging Het
Itih5 A G 2: 10,185,564 (GRCm38) I61V possibly damaging Het
Ivl G A 3: 92,571,514 (GRCm38) L415F unknown Het
Kif2a A G 13: 106,976,650 (GRCm38) probably benign Het
Kmt2d T C 15: 98,850,311 (GRCm38) probably benign Het
Lars2 A G 9: 123,438,121 (GRCm38) probably benign Het
Lilrb4a T C 10: 51,491,581 (GRCm38) V73A probably benign Het
Lratd2 G T 15: 60,823,674 (GRCm38) Y74* probably null Het
Lrrc8a A G 2: 30,256,788 (GRCm38) D538G possibly damaging Het
Lrrk1 G A 7: 66,296,263 (GRCm38) probably benign Het
Mc2r A T 18: 68,408,132 (GRCm38) I30K possibly damaging Het
Mybbp1a C A 11: 72,450,107 (GRCm38) probably null Het
Ncam2 A G 16: 81,517,629 (GRCm38) probably benign Het
Nlk T C 11: 78,571,475 (GRCm38) I509V probably benign Het
Nlrp2 A T 7: 5,328,109 (GRCm38) N429K probably benign Het
Nlrp9b A G 7: 20,028,498 (GRCm38) T247A probably benign Het
Noxo1 A T 17: 24,700,162 (GRCm38) probably null Het
Or1n1b A T 2: 36,890,023 (GRCm38) M275K probably benign Het
Or2ag2b A T 7: 106,818,697 (GRCm38) I205L probably benign Het
Or3a10 A G 11: 74,045,118 (GRCm38) I52T probably damaging Het
Or4c107 T A 2: 88,958,755 (GRCm38) C96* probably null Het
Or4m1 C A 14: 50,320,179 (GRCm38) A219S probably benign Het
Oxr1 T C 15: 41,820,062 (GRCm38) S294P probably damaging Het
Pfpl A G 19: 12,429,237 (GRCm38) Y284C probably damaging Het
Pi16 A T 17: 29,326,943 (GRCm38) T232S probably benign Het
Plcxd2 A T 16: 46,009,707 (GRCm38) N50K probably benign Het
Plekhn1 T A 4: 156,228,246 (GRCm38) N52Y probably damaging Het
Prl2c5 T C 13: 13,183,049 (GRCm38) probably benign Het
Prrc2b G A 2: 32,219,654 (GRCm38) V1080I probably damaging Het
Psg28 A T 7: 18,430,396 (GRCm38) N130K probably benign Het
Psme4 C A 11: 30,811,980 (GRCm38) T440K probably damaging Het
Ptcd2 T C 13: 99,321,596 (GRCm38) K296E probably benign Het
Ptprq T C 10: 107,542,735 (GRCm38) probably null Het
Rab5b A C 10: 128,686,746 (GRCm38) probably null Het
Rft1 T A 14: 30,690,583 (GRCm38) S534T probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Rsu1 A T 2: 13,170,135 (GRCm38) probably benign Het
Senp6 A G 9: 80,136,747 (GRCm38) M887V probably benign Het
Sgcz T A 8: 37,952,919 (GRCm38) M60L probably benign Het
Siglec1 G A 2: 131,083,941 (GRCm38) Q282* probably null Het
Sipa1l2 T C 8: 125,421,940 (GRCm38) T1655A probably damaging Het
Slc28a2b T A 2: 122,521,928 (GRCm38) S389T probably damaging Het
Slc43a3 G A 2: 84,937,663 (GRCm38) probably benign Het
Snx29 T C 16: 11,738,373 (GRCm38) V756A probably benign Het
Spta1 T A 1: 174,217,894 (GRCm38) H1539Q probably damaging Het
Stk3 A C 15: 35,099,469 (GRCm38) S104A probably damaging Het
Stk38 C A 17: 28,992,416 (GRCm38) probably null Het
Stx6 T C 1: 155,174,163 (GRCm38) probably benign Het
Thbs4 G A 13: 92,775,532 (GRCm38) T230I probably benign Het
Thrsp A G 7: 97,417,502 (GRCm38) M1T probably null Het
Tmem63b A T 17: 45,675,373 (GRCm38) probably benign Het
Top2a A G 11: 99,009,907 (GRCm38) probably benign Het
Tpd52l2 T C 2: 181,502,059 (GRCm38) probably null Het
Trak1 A G 9: 121,454,338 (GRCm38) E390G probably damaging Het
Trappc3 T A 4: 126,273,952 (GRCm38) D101E possibly damaging Het
Trhr A G 15: 44,197,086 (GRCm38) M1V probably null Het
Triobp T A 15: 78,973,676 (GRCm38) I1159K probably benign Het
Unc45a A G 7: 80,326,297 (GRCm38) probably benign Het
Usb1 A G 8: 95,333,457 (GRCm38) D12G probably damaging Het
Ushbp1 C T 8: 71,394,649 (GRCm38) C113Y possibly damaging Het
Vim A G 2: 13,574,859 (GRCm38) K143R probably benign Het
Vmn2r75 T C 7: 86,148,307 (GRCm38) K766R probably benign Het
Xpo5 T G 17: 46,241,507 (GRCm38) C1089G 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
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
R1184:Napg UTSW 18 62,994,338 (GRCm38) missense probably benign 0.04
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
(F):5'- tcaccacaacctgaggaac -3'
Posted On 2013-05-09