Incidental Mutation 'R0419:Stx2'
ID 36918
Institutional Source Beutler Lab
Gene Symbol Stx2
Ensembl Gene ENSMUSG00000029428
Gene Name syntaxin 2
Synonyms repro34, G1-536-1, Syn-2, Epim
MMRRC Submission 038621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0419 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 129061621-129085638 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 129070641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031378] [ENSMUST00000100680] [ENSMUST00000149877] [ENSMUST00000195906]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031378
SMART Domains Protein: ENSMUSP00000031378
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144846
Predicted Effect probably benign
Transcript: ENSMUST00000149877
SMART Domains Protein: ENSMUSP00000118220
Gene: ENSMUSG00000029428

DomainStartEndE-ValueType
Pfam:Syntaxin 1 85 1.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151712
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,842 (GRCm39) probably benign Het
5730507C01Rik A T 12: 18,583,424 (GRCm39) R161S possibly damaging Het
Adamts5 T C 16: 85,663,530 (GRCm39) I735V probably benign Het
Arid1a G T 4: 133,408,435 (GRCm39) P2024Q unknown Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
B3galt4 T C 17: 34,169,764 (GRCm39) Y158C probably damaging Het
BC049715 A G 6: 136,817,143 (GRCm39) T128A possibly damaging Het
Btaf1 T A 19: 36,922,629 (GRCm39) I11N probably damaging Het
Cfb T C 17: 35,077,485 (GRCm39) I496V probably damaging Het
Chd8 A T 14: 52,441,517 (GRCm39) H858Q probably benign Het
Chrne T C 11: 70,506,549 (GRCm39) I324V probably benign Het
Clec14a T C 12: 58,314,451 (GRCm39) I390M probably damaging Het
Cpsf3 A G 12: 21,347,800 (GRCm39) Y207C probably damaging Het
Cubn A C 2: 13,474,574 (GRCm39) I410S possibly damaging Het
Cubn T A 2: 13,474,575 (GRCm39) I410F possibly damaging Het
Dlc1 T C 8: 37,050,740 (GRCm39) E997G possibly damaging Het
Emilin1 G T 5: 31,072,366 (GRCm39) V71F probably damaging Het
Esrp2 T C 8: 106,861,307 (GRCm39) E164G probably damaging Het
Fars2 A G 13: 36,721,285 (GRCm39) T410A probably benign Het
Fat3 A G 9: 15,903,552 (GRCm39) V2981A probably damaging Het
Fkbp15 G A 4: 62,244,373 (GRCm39) T472I probably benign Het
Gm6871 A G 7: 41,222,869 (GRCm39) V73A probably benign Het
Gnl2 T G 4: 124,947,320 (GRCm39) S647R probably benign Het
Grb10 T C 11: 11,884,207 (GRCm39) I500V possibly damaging Het
Herc1 T C 9: 66,353,356 (GRCm39) probably benign Het
Iqgap2 A C 13: 95,826,207 (GRCm39) probably null Het
Kcnu1 A T 8: 26,427,646 (GRCm39) N321I probably benign Het
Kif23 G A 9: 61,833,687 (GRCm39) R519* probably null Het
Klhl1 C T 14: 96,619,225 (GRCm39) R224Q probably benign Het
Lama1 T C 17: 68,098,605 (GRCm39) probably null Het
Lamp3 T C 16: 19,492,302 (GRCm39) Y314C probably damaging Het
Lamtor5 C A 3: 107,189,227 (GRCm39) R88S probably damaging Het
Nbea G T 3: 55,726,715 (GRCm39) A2088E probably benign Het
Neo1 A G 9: 58,897,463 (GRCm39) probably benign Het
Ntn4 A T 10: 93,518,291 (GRCm39) R199S probably benign Het
Or5ap2 A T 2: 85,680,311 (GRCm39) R172* probably null Het
Plekho2 A G 9: 65,464,334 (GRCm39) S172P possibly damaging Het
Pmp2 T C 3: 10,245,823 (GRCm39) Y129C probably damaging Het
Prss3b T C 6: 41,011,281 (GRCm39) N34D probably benign Het
Ralgapa2 A T 2: 146,270,592 (GRCm39) M578K possibly damaging Het
Ranbp3 C T 17: 57,015,219 (GRCm39) T307M possibly damaging Het
Serpinb11 G A 1: 107,304,590 (GRCm39) W185* probably null Het
Setdb2 A T 14: 59,644,193 (GRCm39) probably null Het
Sirpb1b A T 3: 15,613,656 (GRCm39) V75E probably damaging Het
Slc13a1 A T 6: 24,100,292 (GRCm39) L397Q probably damaging Het
Slc19a1 T A 10: 76,878,742 (GRCm39) I355N probably damaging Het
Slc51a T A 16: 32,295,254 (GRCm39) I275F possibly damaging Het
Spink14 T C 18: 44,164,934 (GRCm39) S84P probably damaging Het
Tgfbi G T 13: 56,780,006 (GRCm39) probably benign Het
Tshr T A 12: 91,504,643 (GRCm39) M527K probably damaging Het
Upb1 T C 10: 75,248,717 (GRCm39) V79A probably damaging Het
Zdhhc5 A T 2: 84,521,587 (GRCm39) probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp280d T C 9: 72,219,519 (GRCm39) V32A probably benign 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
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
R7379:Stx2 UTSW 5 129,064,863 (GRCm39) missense possibly damaging 0.68
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'- TTCACATGGAAGAGATGCAGCCCC -3'
(R):5'- CCACAAGTGCGGACAGTGTCATAAG -3'

Sequencing Primer
(F):5'- TGCAGGATACTGGCCTCAAC -3'
(R):5'- CGGACAGTGTCATAAGCATTC -3'
Posted On 2013-05-09