Incidental Mutation 'R7379:Stx2'
ID 572572
Institutional Source Beutler Lab
Gene Symbol Stx2
Ensembl Gene ENSMUSG00000029428
Gene Name syntaxin 2
Synonyms repro34, G1-536-1, Syn-2, Epim
MMRRC Submission 045461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7379 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 129061621-129085638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129064863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 278 (V278A)
Ref Sequence ENSEMBL: ENSMUSP00000031378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031378] [ENSMUST00000100680]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031378
AA Change: V278A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031378
Gene: ENSMUSG00000029428
AA Change: V278A

DomainStartEndE-ValueType
SynN 25 146 1.33e-40 SMART
low complexity region 159 170 N/A INTRINSIC
low complexity region 175 185 N/A INTRINSIC
t_SNARE 187 254 1.74e-19 SMART
transmembrane domain 266 288 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100680
SMART Domains Protein: ENSMUSP00000098247
Gene: ENSMUSG00000029428

DomainStartEndE-ValueType
SynN 25 146 1.33e-40 SMART
low complexity region 159 170 N/A INTRINSIC
low complexity region 175 185 N/A INTRINSIC
t_SNARE 187 254 1.74e-19 SMART
transmembrane domain 265 287 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display male infertility associated with abnormal testicular development and impaired spermatogenesis, increased intestinal growth due to enhanced crypt cell proliferation and crypt fission, and decreased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted(4) Gene trapped(5) Chemically induced(1)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 G A 17: 66,292,242 (GRCm39) R1064* probably null Het
Ccdc149 A G 5: 52,562,408 (GRCm39) I206T probably damaging Het
Ctu1 AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG AGGACCGGGCAGGAGCCACCTGTGTATCGCAG 7: 43,326,490 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,414,183 (GRCm39) T361A probably damaging Het
Cyp4a14 A T 4: 115,350,907 (GRCm39) probably null Het
Cyp7b1 A G 3: 18,151,538 (GRCm39) V225A probably benign Het
Esf1 A G 2: 139,996,854 (GRCm39) I503T probably benign Het
Flrt2 G A 12: 95,747,329 (GRCm39) V556I possibly damaging Het
Gaa T C 11: 119,174,525 (GRCm39) S791P probably benign Het
H2-T22 A G 17: 36,353,232 (GRCm39) probably null Het
Hexb A G 13: 97,317,672 (GRCm39) S342P probably damaging Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ift57 A G 16: 49,581,357 (GRCm39) E341G probably damaging Het
Itpkc A T 7: 26,927,194 (GRCm39) I240K probably benign Het
Kit A T 5: 75,808,412 (GRCm39) S719C probably damaging Het
Klf1 T A 8: 85,629,846 (GRCm39) Y224N possibly damaging Het
Krt77 T C 15: 101,769,709 (GRCm39) E387G probably damaging Het
L3mbtl1 T A 2: 162,802,899 (GRCm39) D347E probably damaging Het
Map1s A G 8: 71,366,219 (GRCm39) T375A possibly damaging Het
Mturn A G 6: 54,666,069 (GRCm39) T81A possibly damaging Het
Mug2 A G 6: 122,024,446 (GRCm39) E506G possibly damaging Het
Notch1 A G 2: 26,369,479 (GRCm39) F512S probably damaging Het
Or10g1 T C 14: 52,647,718 (GRCm39) T204A probably benign Het
Or12e13 T A 2: 87,664,123 (GRCm39) C247S probably damaging Het
Or4c12b T A 2: 89,647,033 (GRCm39) V115E probably benign Het
Or9s14 G T 1: 92,536,189 (GRCm39) C210F possibly damaging Het
Pcdhga10 A G 18: 37,880,619 (GRCm39) N127D probably damaging Het
Plb1 A G 5: 32,502,983 (GRCm39) I1148V probably damaging Het
Plcb1 A G 2: 135,212,430 (GRCm39) D1007G probably benign Het
Prdm16 T A 4: 154,613,316 (GRCm39) E37V probably damaging Het
Prss45 C A 9: 110,668,261 (GRCm39) N151K possibly damaging Het
Rngtt A T 4: 33,498,981 (GRCm39) K513* probably null Het
Serpinb10 T C 1: 107,460,117 (GRCm39) probably benign Het
Shc1 T C 3: 89,334,129 (GRCm39) V402A probably benign Het
Slc25a38 T A 9: 119,949,902 (GRCm39) L227Q probably benign Het
Slc6a13 A T 6: 121,313,798 (GRCm39) K514* probably null Het
Sorcs3 T C 19: 48,760,705 (GRCm39) V911A possibly damaging Het
Sptb A T 12: 76,657,651 (GRCm39) I1290N probably damaging Het
Sptbn1 T C 11: 30,089,292 (GRCm39) K657E possibly damaging Het
Stpg4 T A 17: 87,735,068 (GRCm39) probably null Het
Thoc1 A T 18: 9,992,902 (GRCm39) N558I probably benign Het
Trpm2 T C 10: 77,750,568 (GRCm39) T1343A probably benign Het
Usf3 T A 16: 44,040,939 (GRCm39) D1806E probably benign Het
Vmn2r106 C T 17: 20,488,037 (GRCm39) M787I possibly damaging Het
Wdfy4 A G 14: 32,873,566 (GRCm39) S248P Het
Zeb2 G T 2: 44,891,829 (GRCm39) probably null Het
Other mutations in Stx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Stx2 APN 5 129,068,042 (GRCm39) missense probably benign 0.01
IGL01951:Stx2 APN 5 129,069,329 (GRCm39) missense probably damaging 1.00
IGL02348:Stx2 APN 5 129,065,894 (GRCm39) missense probably damaging 1.00
IGL02902:Stx2 APN 5 129,069,285 (GRCm39) missense probably damaging 1.00
R0050:Stx2 UTSW 5 129,076,572 (GRCm39) critical splice donor site probably null
R0050:Stx2 UTSW 5 129,076,572 (GRCm39) critical splice donor site probably null
R0277:Stx2 UTSW 5 129,065,967 (GRCm39) missense probably benign 0.00
R0323:Stx2 UTSW 5 129,065,967 (GRCm39) missense probably benign 0.00
R0419:Stx2 UTSW 5 129,070,641 (GRCm39) splice site probably benign
R0843:Stx2 UTSW 5 129,076,612 (GRCm39) missense probably damaging 1.00
R1346:Stx2 UTSW 5 129,065,852 (GRCm39) unclassified probably benign
R1631:Stx2 UTSW 5 129,069,289 (GRCm39) missense probably damaging 1.00
R1920:Stx2 UTSW 5 129,065,903 (GRCm39) missense probably damaging 1.00
R5350:Stx2 UTSW 5 129,068,155 (GRCm39) missense probably damaging 1.00
R6877:Stx2 UTSW 5 129,064,884 (GRCm39) missense probably benign 0.00
R7391:Stx2 UTSW 5 129,065,867 (GRCm39) missense probably damaging 1.00
R7747:Stx2 UTSW 5 129,063,481 (GRCm39) missense probably benign 0.39
R7803:Stx2 UTSW 5 129,070,627 (GRCm39) nonsense probably null
R8354:Stx2 UTSW 5 129,071,932 (GRCm39) missense probably benign 0.00
R8725:Stx2 UTSW 5 129,070,564 (GRCm39) missense probably damaging 0.96
R9348:Stx2 UTSW 5 129,076,601 (GRCm39) missense probably benign 0.00
R9768:Stx2 UTSW 5 129,063,422 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AACGCCTGAAGCAAAGTGC -3'
(R):5'- CTCTGGGAAGTGAAGACTGC -3'

Sequencing Primer
(F):5'- AGTGCTCAATGGGCAAGCC -3'
(R):5'- AAGTGAAGACTGCTCTAGGTCTC -3'
Posted On 2019-09-13