Incidental Mutation 'R5774:Stx16'
ID 445547
Institutional Source Beutler Lab
Gene Symbol Stx16
Ensembl Gene ENSMUSG00000027522
Gene Name syntaxin 16
Synonyms 5430410K23Rik, 6330500A18Rik, SYN16
MMRRC Submission 043373-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5774 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 173918101-173941564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 173935292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 156 (G156R)
Ref Sequence ENSEMBL: ENSMUSP00000120279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044638] [ENSMUST00000087908] [ENSMUST00000134876] [ENSMUST00000147038] [ENSMUST00000155000]
AlphaFold Q8BVI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000044638
AA Change: G210R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: G210R

DomainStartEndE-ValueType
Blast:SynN 76 190 2e-20 BLAST
t_SNARE 227 294 9.13e-23 SMART
transmembrane domain 305 324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087908
AA Change: G209R

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: G209R

DomainStartEndE-ValueType
Pfam:Syntaxin 74 174 2.1e-15 PFAM
t_SNARE 226 293 9.13e-23 SMART
transmembrane domain 304 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134876
Predicted Effect probably damaging
Transcript: ENSMUST00000147038
AA Change: G156R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120279
Gene: ENSMUSG00000027522
AA Change: G156R

DomainStartEndE-ValueType
Pfam:Syntaxin 21 121 3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155000
SMART Domains Protein: ENSMUSP00000119952
Gene: ENSMUSG00000027522

DomainStartEndE-ValueType
Pfam:Syntaxin 21 89 4.8e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000156054
AA Change: G206R
SMART Domains Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522
AA Change: G206R

DomainStartEndE-ValueType
Blast:SynN 73 187 5e-21 BLAST
Pfam:SNARE 217 258 6.6e-18 PFAM
Meta Mutation Damage Score 0.2687 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and do not exhibit methylation abnormalities or develop a pseudohypoparathyroidism resistance phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,581,668 (GRCm39) L62M probably damaging Het
Abcc9 G A 6: 142,574,285 (GRCm39) T949I probably damaging Het
Adam4 C T 12: 81,467,460 (GRCm39) S387N probably damaging Het
Akap11 T C 14: 78,748,407 (GRCm39) S1327G probably damaging Het
Arhgap1 A G 2: 91,484,453 (GRCm39) T12A possibly damaging Het
Arhgap28 A G 17: 68,188,487 (GRCm39) S228P possibly damaging Het
Atp6v1b2 A T 8: 69,554,613 (GRCm39) D106V probably damaging Het
Atp9b T G 18: 80,977,147 (GRCm39) D3A probably damaging Het
Bptf A G 11: 107,001,963 (GRCm39) F383S probably damaging Het
Cdh24 T C 14: 54,876,514 (GRCm39) T104A probably damaging Het
Cep55 A G 19: 38,051,103 (GRCm39) E171G probably damaging Het
Cntrl T A 2: 35,052,873 (GRCm39) M1126K probably benign Het
Cts3 A T 13: 61,716,184 (GRCm39) I59N probably damaging Het
Ddx52 A G 11: 83,836,960 (GRCm39) I150M probably damaging Het
Dennd6a T C 14: 26,300,974 (GRCm39) V62A probably benign Het
Dpep1 C A 8: 123,926,721 (GRCm39) D211E probably damaging Het
Gm1527 T C 3: 28,972,239 (GRCm39) V452A probably benign Het
Hmcn2 T C 2: 31,299,147 (GRCm39) V2831A possibly damaging Het
Hrob T A 11: 102,146,495 (GRCm39) I257N possibly damaging Het
Hydin G T 8: 111,298,547 (GRCm39) E3722* probably null Het
Il17a A G 1: 20,803,997 (GRCm39) S131G probably benign Het
Ing3 C T 6: 21,967,688 (GRCm39) P119S probably benign Het
Larp4b T A 13: 9,220,679 (GRCm39) probably null Het
Lca5l G T 16: 95,977,261 (GRCm39) Q177K probably benign Het
Lrrc61 C T 6: 48,545,133 (GRCm39) probably benign Het
Man2a2 T C 7: 80,018,106 (GRCm39) Y188C probably damaging Het
Mdk T C 2: 91,761,569 (GRCm39) E36G probably damaging Het
Mmp12 T C 9: 7,354,823 (GRCm39) I272T possibly damaging Het
Myh4 A T 11: 67,144,034 (GRCm39) K1135* probably null Het
Nup188 T A 2: 30,191,060 (GRCm39) Y96N probably damaging Het
Or8k33 A T 2: 86,384,351 (GRCm39) V39E possibly damaging Het
Pank4 G A 4: 155,065,119 (GRCm39) G806D probably damaging Het
Parp14 T C 16: 35,678,780 (GRCm39) Y396C probably damaging Het
Pcdhb8 T A 18: 37,489,738 (GRCm39) I472N probably damaging Het
Sema3a T A 5: 13,573,131 (GRCm39) W220R probably damaging Het
Slc35g3 A G 11: 69,651,124 (GRCm39) V309A probably damaging Het
Slc6a6 A G 6: 91,721,981 (GRCm39) M394V probably damaging Het
Specc1l G A 10: 75,081,234 (GRCm39) R210H probably damaging Het
Spocd1 T A 4: 129,845,579 (GRCm39) S480T probably benign Het
Sptbn5 T A 2: 119,880,939 (GRCm39) noncoding transcript Het
Srrm2 A G 17: 24,037,249 (GRCm39) probably benign Het
Topbp1 A G 9: 103,205,698 (GRCm39) K779E probably benign Het
Trank1 T A 9: 111,220,294 (GRCm39) F2344I probably damaging Het
Ttll5 GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC G 12: 85,980,329 (GRCm39) probably null Het
Ube4a G A 9: 44,864,395 (GRCm39) P66L probably damaging Het
Utp6 A T 11: 79,844,424 (GRCm39) F200L probably benign Het
Vmn2r117 A T 17: 23,696,176 (GRCm39) H410Q probably damaging Het
Vps33b C T 7: 79,935,088 (GRCm39) H344Y probably benign Het
Xpo5 C T 17: 46,552,772 (GRCm39) R1145* probably null Het
Zbed4 T A 15: 88,665,852 (GRCm39) F640Y possibly damaging Het
Zfp618 C T 4: 63,050,799 (GRCm39) R527C probably damaging Het
Other mutations in Stx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Stx16 APN 2 173,934,202 (GRCm39) missense probably damaging 1.00
IGL01626:Stx16 APN 2 173,935,813 (GRCm39) missense probably damaging 1.00
IGL03052:Stx16 UTSW 2 173,934,231 (GRCm39) missense probably benign 0.01
R0257:Stx16 UTSW 2 173,938,754 (GRCm39) missense probably benign 0.39
R4929:Stx16 UTSW 2 173,938,721 (GRCm39) missense possibly damaging 0.94
R5728:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5729:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5746:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5772:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5776:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R6147:Stx16 UTSW 2 173,932,480 (GRCm39) missense probably damaging 1.00
R6837:Stx16 UTSW 2 173,935,795 (GRCm39) missense probably benign 0.09
R8151:Stx16 UTSW 2 173,935,284 (GRCm39) missense possibly damaging 0.70
R8675:Stx16 UTSW 2 173,934,255 (GRCm39) missense probably benign 0.04
R9468:Stx16 UTSW 2 173,933,327 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTAATGCAAGCAAGGCTCCC -3'
(R):5'- TAGGCCTCTGTGACGACTAG -3'

Sequencing Primer
(F):5'- CTTTAGACTGTTTAGGGGCCTCC -3'
(R):5'- CTCTGTGACGACTAGGAGGG -3'
Posted On 2016-11-21