Incidental Mutation 'IGL00420:Vapb'
ID 6948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vapb
Ensembl Gene ENSMUSG00000054455
Gene Name vesicle-associated membrane protein, associated protein B and C
Synonyms VAP33b, VAMP-associated protein 33b, D2Abb2e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL00420
Quality Score
Status
Chromosome 2
Chromosomal Location 173579378-173626132 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 173619964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 228 (V228M)
Ref Sequence ENSEMBL: ENSMUSP00000064699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067530]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067530
AA Change: V228M

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064699
Gene: ENSMUSG00000054455
AA Change: V228M

DomainStartEndE-ValueType
Pfam:Motile_Sperm 7 113 9.7e-35 PFAM
coiled coil region 162 196 N/A INTRINSIC
transmembrane domain 220 242 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154306
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibited enhanced motor coordination during inverted screen testing. Mice homozygous for another knock-out allele exhibit hypotonia, impaired coordination in older mice and mild tremors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,931,078 (GRCm39) S170T probably benign Het
Cep55 C A 19: 38,061,887 (GRCm39) Q443K probably damaging Het
Ces1c T C 8: 93,833,301 (GRCm39) E388G probably benign Het
Chd9 T C 8: 91,752,020 (GRCm39) S1753P possibly damaging Het
Cse1l T A 2: 166,769,724 (GRCm39) I343N probably damaging Het
Ctif T G 18: 75,570,247 (GRCm39) M551L possibly damaging Het
Cyp2c29 A G 19: 39,310,143 (GRCm39) probably benign Het
Filip1 G A 9: 79,725,226 (GRCm39) T1131I probably damaging Het
Gm13941 G A 2: 110,922,193 (GRCm39) probably benign Het
Klc3 T C 7: 19,130,220 (GRCm39) E319G possibly damaging Het
Lonrf1 T C 8: 36,697,231 (GRCm39) probably benign Het
Lrba A G 3: 86,267,089 (GRCm39) E1593G probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Mthfr T A 4: 148,125,727 (GRCm39) M20K probably benign Het
Nsd2 C A 5: 34,040,347 (GRCm39) N960K possibly damaging Het
Osgin1 T A 8: 120,171,785 (GRCm39) V193E probably damaging Het
Pced1a A T 2: 130,261,098 (GRCm39) C420S probably benign Het
Pkd2l1 C T 19: 44,146,075 (GRCm39) probably null Het
Plekhg5 C A 4: 152,186,498 (GRCm39) probably null Het
Prkg2 A G 5: 99,172,400 (GRCm39) V105A probably benign Het
Rab11fip3 A G 17: 26,286,599 (GRCm39) I518T probably benign Het
Rapgef5 T A 12: 117,677,917 (GRCm39) V150D probably damaging Het
Sema4c A G 1: 36,593,001 (GRCm39) probably benign Het
Slc27a2 A G 2: 126,422,837 (GRCm39) E354G probably damaging Het
Slc28a3 A T 13: 58,722,114 (GRCm39) L257I probably benign Het
Slc2a8 G T 2: 32,863,636 (GRCm39) Q469K probably damaging Het
Slc44a1 T C 4: 53,553,550 (GRCm39) V519A possibly damaging Het
Slco6d1 A G 1: 98,359,955 (GRCm39) probably null Het
Strap T C 6: 137,722,521 (GRCm39) S219P probably damaging Het
Tjp1 T C 7: 64,950,967 (GRCm39) I1636V probably benign Het
Tle1 G A 4: 72,087,355 (GRCm39) R126C possibly damaging Het
Traf3 T A 12: 111,205,501 (GRCm39) I94N probably damaging Het
Trps1 G T 15: 50,710,266 (GRCm39) T28K probably benign Het
Unc13c T A 9: 73,643,985 (GRCm39) T1160S probably damaging Het
Wdr3 A T 3: 100,055,424 (GRCm39) D506E probably damaging Het
Zfp119a A T 17: 56,172,792 (GRCm39) C350* probably null Het
Zfp51 A T 17: 21,683,714 (GRCm39) M110L probably benign Het
Zfp687 G A 3: 94,919,727 (GRCm39) A15V probably damaging Het
Zkscan6 A G 11: 65,719,287 (GRCm39) T436A possibly damaging Het
Other mutations in Vapb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0017:Vapb UTSW 2 173,613,397 (GRCm39) missense probably benign
R0017:Vapb UTSW 2 173,613,397 (GRCm39) missense probably benign
R1302:Vapb UTSW 2 173,613,330 (GRCm39) missense possibly damaging 0.92
R1468:Vapb UTSW 2 173,603,905 (GRCm39) splice site probably benign
R2015:Vapb UTSW 2 173,613,391 (GRCm39) missense probably benign
R5396:Vapb UTSW 2 173,613,336 (GRCm39) nonsense probably null
R6638:Vapb UTSW 2 173,613,362 (GRCm39) missense probably damaging 1.00
R9027:Vapb UTSW 2 173,617,948 (GRCm39) missense possibly damaging 0.59
Posted On 2012-04-20