Incidental Mutation 'IGL02902:Stx2'
ID 363622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx2
Ensembl Gene ENSMUSG00000029428
Gene Name syntaxin 2
Synonyms repro34, G1-536-1, Syn-2, Epim
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02902
Quality Score
Status
Chromosome 5
Chromosomal Location 129061621-129085638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129069285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 142 (R142Q)
Ref Sequence ENSEMBL: ENSMUSP00000098247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031378] [ENSMUST00000100680] [ENSMUST00000149877] [ENSMUST00000195906]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031378
AA Change: R142Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031378
Gene: ENSMUSG00000029428
AA Change: R142Q

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 damaging
Transcript: ENSMUST00000100680
AA Change: R142Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098247
Gene: ENSMUSG00000029428
AA Change: R142Q

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 noncoding transcript
Transcript: ENSMUST00000151712
Predicted Effect probably benign
Transcript: ENSMUST00000195906
Coding Region Coverage
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 85,974,087 (GRCm39) V135F possibly damaging Het
Aatk T C 11: 119,902,603 (GRCm39) T541A probably benign Het
Abcc1 T C 16: 14,240,991 (GRCm39) L516P probably damaging Het
Actl6a T A 3: 32,776,791 (GRCm39) V350E possibly damaging Het
Afm A G 5: 90,674,222 (GRCm39) K245E possibly damaging Het
Agr3 T C 12: 35,996,915 (GRCm39) V63A probably damaging Het
Arhgef28 A T 13: 98,083,383 (GRCm39) M1162K probably damaging Het
Casq2 T A 3: 101,994,113 (GRCm39) C53* probably null Het
Ccdc181 T C 1: 164,107,470 (GRCm39) V51A probably benign Het
Cd101 A G 3: 100,926,310 (GRCm39) probably benign Het
Csdc2 T C 15: 81,832,801 (GRCm39) V69A probably benign Het
Cyp2c23 A T 19: 44,009,997 (GRCm39) probably benign Het
Dnph1 A G 17: 46,809,427 (GRCm39) probably benign Het
Egf T C 3: 129,474,796 (GRCm39) T1124A probably benign Het
Gpr45 A G 1: 43,072,371 (GRCm39) E338G possibly damaging Het
Grb14 A C 2: 64,768,762 (GRCm39) L98R probably damaging Het
Gucy1a1 T C 3: 82,026,224 (GRCm39) S77G possibly damaging Het
Helb A G 10: 119,925,390 (GRCm39) S996P probably benign Het
Huwe1 A G X: 150,669,762 (GRCm39) E1405G probably damaging Het
Ifi47 T C 11: 48,986,617 (GRCm39) I128T probably benign Het
Ift140 T A 17: 25,309,736 (GRCm39) Y1089N probably damaging Het
Ift56 A C 6: 38,402,097 (GRCm39) S530R probably benign Het
Il1r1 A T 1: 40,341,569 (GRCm39) H324L probably benign Het
Irx1 C T 13: 72,107,974 (GRCm39) R236H probably benign Het
Itpr3 T C 17: 27,323,530 (GRCm39) V1185A probably benign Het
Kif19a T C 11: 114,676,396 (GRCm39) V450A possibly damaging Het
Krtap21-1 G T 16: 89,200,446 (GRCm39) Y65* probably null Het
Ltn1 A T 16: 87,176,693 (GRCm39) N1704K possibly damaging Het
Med1 T C 11: 98,047,335 (GRCm39) probably benign Het
Meis2 T A 2: 115,893,804 (GRCm39) H36L probably damaging Het
Mier2 T C 10: 79,385,456 (GRCm39) N124S probably damaging Het
Mmp20 A G 9: 7,654,171 (GRCm39) probably null Het
Muc4 A G 16: 32,569,212 (GRCm39) T91A possibly damaging Het
Myo3b T A 2: 70,119,745 (GRCm39) V935E probably benign Het
Ndufa7 T C 17: 34,048,632 (GRCm39) probably benign Het
Nipal1 A G 5: 72,825,405 (GRCm39) E366G possibly damaging Het
Nobox A T 6: 43,282,617 (GRCm39) N263K probably benign Het
Notch2 A G 3: 98,018,890 (GRCm39) D684G probably damaging Het
Odr4 C A 1: 150,260,179 (GRCm39) probably null Het
Or2t1 A G 14: 14,328,789 (GRCm38) H226R probably benign Het
Or4c12b T A 2: 89,647,508 (GRCm39) Y273* probably null Het
Or5p69 C A 7: 107,967,336 (GRCm39) T213K probably damaging Het
Or5w13 T C 2: 87,523,344 (GRCm39) N294S probably damaging Het
Or6aa1 T C 7: 86,043,743 (GRCm39) probably benign Het
Plau A C 14: 20,889,965 (GRCm39) D270A possibly damaging Het
Pof1b T C X: 111,558,809 (GRCm39) probably null Het
Pramel23 A G 4: 143,424,913 (GRCm39) C177R probably damaging Het
Prtn3 A T 10: 79,717,767 (GRCm39) probably null Het
Ptges3 T A 10: 127,904,616 (GRCm39) D26E probably benign Het
Pxmp2 T C 5: 110,429,160 (GRCm39) E99G probably benign Het
Rasgef1a A G 6: 118,060,068 (GRCm39) R106G probably benign Het
Rnf208 T C 2: 25,133,774 (GRCm39) V156A probably benign Het
Rps6ka1 A T 4: 133,599,292 (GRCm39) I45N possibly damaging Het
Rps6ka4 C T 19: 6,809,623 (GRCm39) probably null Het
Rsbn1 G T 3: 103,860,972 (GRCm39) C466F possibly damaging Het
Shkbp1 A T 7: 27,042,141 (GRCm39) C605S probably damaging Het
Slc2a10 G A 2: 165,360,142 (GRCm39) D531N probably benign Het
Sox13 A G 1: 133,317,204 (GRCm39) L143P probably damaging Het
Tanc1 T A 2: 59,623,431 (GRCm39) probably benign Het
Tubgcp5 C T 7: 55,456,355 (GRCm39) Q316* probably null Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unc5d G A 8: 29,365,634 (GRCm39) T117I probably damaging Het
Vmn2r4 T C 3: 64,314,337 (GRCm39) I126V probably benign Het
Zfp410 T A 12: 84,378,594 (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
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
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
Posted On 2015-12-18