Incidental Mutation 'R4478:Snap29'
ID 331376
Institutional Source Beutler Lab
Gene Symbol Snap29
Ensembl Gene ENSMUSG00000022765
Gene Name synaptosomal-associated protein 29
Synonyms 1300018G05Rik
MMRRC Submission 041735-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4478 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17223864-17248690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17246019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 213 (V213A)
Ref Sequence ENSEMBL: ENSMUSP00000023449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023449]
AlphaFold Q9ERB0
Predicted Effect probably benign
Transcript: ENSMUST00000023449
AA Change: V213A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023449
Gene: ENSMUSG00000022765
AA Change: V213A

DomainStartEndE-ValueType
t_SNARE 45 112 1.53e-6 SMART
t_SNARE 193 260 1.39e-13 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 94% (46/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,185,171 (GRCm39) D509G probably benign Het
Ank1 C T 8: 23,610,594 (GRCm39) T1379I probably benign Het
Ap1m2 A G 9: 21,209,509 (GRCm39) V389A probably benign Het
Cdh15 A G 8: 123,591,415 (GRCm39) H517R probably benign Het
Chd9 T C 8: 91,760,659 (GRCm39) probably benign Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cpne5 T C 17: 29,428,450 (GRCm39) T118A probably damaging Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dag1 G C 9: 108,085,929 (GRCm39) T404R probably damaging Het
Dnah3 T G 7: 119,671,086 (GRCm39) H599P probably benign Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Fabp9 T C 3: 10,262,166 (GRCm39) Y30C probably damaging Het
Fnbp1 G A 2: 30,995,266 (GRCm39) A56V probably damaging Het
Hid1 G A 11: 115,252,481 (GRCm39) A67V probably damaging Het
Il6ra T A 3: 89,797,597 (GRCm39) Y90F probably damaging Het
Kcnk18 T C 19: 59,223,676 (GRCm39) S274P probably damaging Het
Kndc1 A T 7: 139,500,600 (GRCm39) D655V probably damaging Het
Lrrk2 G A 15: 91,607,391 (GRCm39) A585T probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo9b A T 8: 71,743,725 (GRCm39) K262M probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10aa1 C T 1: 173,870,182 (GRCm39) T222I probably benign Het
Or6c6b C T 10: 129,147,645 (GRCm39) L90F possibly damaging Het
Or8h10 G T 2: 86,808,562 (GRCm39) R193S probably benign Het
Plxna4 A T 6: 32,173,068 (GRCm39) C1288S possibly damaging Het
Ptpn22 T C 3: 103,809,380 (GRCm39) probably benign Het
Rab11fip3 C T 17: 26,235,057 (GRCm39) E619K probably damaging Het
Robo2 C A 16: 73,812,761 (GRCm39) R311L probably damaging Het
S2bpcox16 T C 12: 81,535,990 (GRCm39) probably benign Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Slc39a12 T A 2: 14,424,990 (GRCm39) L407* probably null Het
Spef1l A T 7: 139,555,773 (GRCm39) probably null Het
Stard7 T A 2: 127,126,179 (GRCm39) L77Q probably damaging Het
Stat5b A G 11: 100,678,110 (GRCm39) Y668H probably benign Het
Tgfb2 A G 1: 186,364,696 (GRCm39) I266T probably damaging Het
Tmem87a C T 2: 120,199,824 (GRCm39) W440* probably null Het
Tnr T A 1: 159,712,326 (GRCm39) probably null Het
Ubl3 C T 5: 148,448,787 (GRCm39) S18N probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r9 T C 5: 108,994,143 (GRCm39) E502G probably benign Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Vwa8 T A 14: 79,106,241 (GRCm39) D61E probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp1 A G 8: 112,397,175 (GRCm39) R366G probably damaging Het
Zfp282 A T 6: 47,867,630 (GRCm39) R269* probably null Het
Other mutations in Snap29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03231:Snap29 APN 16 17,244,964 (GRCm39) missense probably benign 0.06
IGL02799:Snap29 UTSW 16 17,240,367 (GRCm39) missense probably benign
R0086:Snap29 UTSW 16 17,246,100 (GRCm39) missense probably damaging 0.96
R0371:Snap29 UTSW 16 17,224,067 (GRCm39) missense probably benign 0.02
R0616:Snap29 UTSW 16 17,240,370 (GRCm39) nonsense probably null
R0709:Snap29 UTSW 16 17,224,012 (GRCm39) missense probably damaging 0.99
R2002:Snap29 UTSW 16 17,224,190 (GRCm39) nonsense probably null
R2137:Snap29 UTSW 16 17,246,113 (GRCm39) missense possibly damaging 0.60
R4976:Snap29 UTSW 16 17,237,132 (GRCm39) missense probably damaging 1.00
R5933:Snap29 UTSW 16 17,224,194 (GRCm39) missense probably damaging 1.00
R6314:Snap29 UTSW 16 17,237,183 (GRCm39) missense probably benign 0.25
R6824:Snap29 UTSW 16 17,240,370 (GRCm39) missense probably benign 0.01
R7397:Snap29 UTSW 16 17,237,236 (GRCm39) missense probably damaging 1.00
R9088:Snap29 UTSW 16 17,246,058 (GRCm39) missense probably damaging 1.00
R9180:Snap29 UTSW 16 17,224,163 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTTAACAGTGGCTGTCTAGAG -3'
(R):5'- AATCTTCTCATCAGGATGGAGCAG -3'

Sequencing Primer
(F):5'- GGAGATACACAGTGGTCTCTACC -3'
(R):5'- CTTCTCATCAGGATGGAGCAGAGTTC -3'
Posted On 2015-07-21