Incidental Mutation 'R0068:Napb'
ID 201435
Institutional Source Beutler Lab
Gene Symbol Napb
Ensembl Gene ENSMUSG00000027438
Gene Name N-ethylmaleimide sensitive fusion protein attachment protein beta
Synonyms I47, E161, Brp14, SNARE, b-SNAP
MMRRC Submission 038359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0068 (G1)
Quality Score 20
Status Validated
Chromosome 2
Chromosomal Location 148535905-148574387 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 148540843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028926] [ENSMUST00000136513]
AlphaFold P28663
Predicted Effect probably benign
Transcript: ENSMUST00000028926
SMART Domains Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438

DomainStartEndE-ValueType
Pfam:SNAP 8 288 7.3e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136513
SMART Domains Protein: ENSMUSP00000120979
Gene: ENSMUSG00000027438

DomainStartEndE-ValueType
Pfam:SNAP 8 114 3.5e-32 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 92.6%
Validation Efficiency 99% (72/73)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit seizures, ataxia, abnormal synaptic vesicle priming, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,073,708 (GRCm39) T1448A probably damaging Het
Aldoart2 G T 12: 55,612,233 (GRCm39) E53* probably null Het
Ankra2 C T 13: 98,409,891 (GRCm39) Q137* probably null Het
Arpc1a C T 5: 145,028,054 (GRCm39) T21I possibly damaging Het
Arvcf T C 16: 18,214,819 (GRCm39) probably benign Het
Ash1l C A 3: 88,914,624 (GRCm39) S1751R probably benign Het
Bltp1 A G 3: 37,006,370 (GRCm39) T1675A probably benign Het
Bsn C A 9: 107,989,336 (GRCm39) G2139C probably damaging Het
Ccdc148 T C 2: 58,717,629 (GRCm39) E530G probably benign Het
Cct3 A G 3: 88,225,772 (GRCm39) D365G probably benign Het
Chd2 A T 7: 73,134,282 (GRCm39) S688R probably damaging Het
Crispld1 A G 1: 17,823,212 (GRCm39) T398A possibly damaging Het
Ctbp2 A C 7: 132,591,788 (GRCm39) V906G possibly damaging Het
Cwf19l1 A T 19: 44,119,938 (GRCm39) Y68N probably damaging Het
Dlc1 T A 8: 37,404,875 (GRCm39) M305L probably benign Het
Dnm1l C A 16: 16,141,883 (GRCm39) G288C probably damaging Het
Efcab3 T C 11: 104,611,648 (GRCm39) S497P probably benign Het
Fignl2 A T 15: 100,952,129 (GRCm39) I51N probably damaging Het
Flnb A G 14: 7,915,290 (GRCm38) N1474D possibly damaging Het
Ghrhr C T 6: 55,357,849 (GRCm39) probably benign Het
Hltf G A 3: 20,113,254 (GRCm39) R9H probably damaging Het
Hps5 A G 7: 46,426,466 (GRCm39) probably benign Het
Itpr3 T C 17: 27,323,034 (GRCm39) probably benign Het
Kansl1l A G 1: 66,760,047 (GRCm39) V911A probably benign Het
Kdm3b C T 18: 34,957,827 (GRCm39) T1064I probably benign Het
Lrriq1 T A 10: 102,899,279 (GRCm39) Q1654L probably benign Het
Ltbp1 A G 17: 75,666,404 (GRCm39) T1366A probably damaging Het
Mroh1 A G 15: 76,330,892 (GRCm39) probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Npc1 G C 18: 12,341,424 (GRCm39) P532A probably benign Het
Nrp2 G T 1: 62,784,536 (GRCm39) K228N possibly damaging Het
Or13f5 T A 4: 52,825,503 (GRCm39) Y35* probably null Het
Plekhg1 A T 10: 3,890,504 (GRCm39) K241* probably null Het
Poln T C 5: 34,234,432 (GRCm39) probably benign Het
Ppil1 A T 17: 29,471,230 (GRCm39) F92I probably damaging Het
Ppp1r9b T G 11: 94,892,046 (GRCm39) F154V probably damaging Het
Ptchd3 T G 11: 121,733,798 (GRCm39) L896R probably damaging Het
Rev3l A G 10: 39,700,827 (GRCm39) N1775D possibly damaging Het
Rusc2 T C 4: 43,424,100 (GRCm39) probably benign Het
Selenbp2 T C 3: 94,610,816 (GRCm39) V294A probably benign Het
Slc25a48 T C 13: 56,599,024 (GRCm39) V118A probably damaging Het
Slc38a10 T C 11: 120,025,679 (GRCm39) D219G probably damaging Het
Slc38a2 C T 15: 96,589,173 (GRCm39) probably null Het
Slc39a12 A G 2: 14,440,489 (GRCm39) E480G probably benign Het
Tab2 C A 10: 7,795,441 (GRCm39) R347L probably damaging Het
Tas2r123 T C 6: 132,824,955 (GRCm39) I284T possibly damaging Het
Tnks1bp1 T A 2: 84,892,696 (GRCm39) D212E probably benign Het
Trim67 T C 8: 125,521,307 (GRCm39) V223A probably damaging Het
Ugcg A G 4: 59,217,130 (GRCm39) D218G probably benign Het
Vmn2r59 A G 7: 41,695,725 (GRCm39) L229S probably damaging Het
Zfp451 A T 1: 33,816,706 (GRCm39) L198I probably damaging Het
Other mutations in Napb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Napb APN 2 148,549,089 (GRCm39) missense probably damaging 0.97
IGL02987:Napb APN 2 148,539,431 (GRCm39) splice site probably null
R0068:Napb UTSW 2 148,540,843 (GRCm39) splice site probably benign
R1218:Napb UTSW 2 148,542,345 (GRCm39) missense probably damaging 1.00
R1851:Napb UTSW 2 148,548,909 (GRCm39) missense probably benign 0.01
R3508:Napb UTSW 2 148,540,880 (GRCm39) missense probably benign
R3689:Napb UTSW 2 148,544,977 (GRCm39) splice site probably null
R3691:Napb UTSW 2 148,544,977 (GRCm39) splice site probably null
R4377:Napb UTSW 2 148,574,184 (GRCm39) critical splice donor site probably null
R4541:Napb UTSW 2 148,551,229 (GRCm39) splice site probably benign
R4728:Napb UTSW 2 148,551,245 (GRCm39) missense probably damaging 1.00
R5028:Napb UTSW 2 148,545,057 (GRCm39) missense possibly damaging 0.90
R5982:Napb UTSW 2 148,542,411 (GRCm39) splice site probably null
R6228:Napb UTSW 2 148,540,098 (GRCm39) splice site probably null
R6944:Napb UTSW 2 148,548,889 (GRCm39) missense probably benign
R6998:Napb UTSW 2 148,542,345 (GRCm39) missense probably damaging 1.00
R8113:Napb UTSW 2 148,551,351 (GRCm39) missense possibly damaging 0.69
R8705:Napb UTSW 2 148,542,396 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CAAGGCTGCATACTTCAGAACAGAGTTA -3'
(R):5'- TCTTCTCTCCAGTTGCCCAACTAAAATC -3'

Sequencing Primer
(F):5'- aagaactaaagaagaaagagccac -3'
(R):5'- CCTCTGTTCTGATGTAGGATTTAAC -3'
Posted On 2014-06-10