Incidental Mutation 'IGL02588:Cplx1'
ID299599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cplx1
Ensembl Gene ENSMUSG00000033615
Gene Namecomplexin 1
Synonyms921-S
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02588
Quality Score
Status
Chromosome5
Chromosomal Location108518554-108550024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108525423 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 44 (R44L)
Ref Sequence ENSEMBL: ENSMUSP00000118118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046892] [ENSMUST00000129040]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046892
AA Change: R59L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038502
Gene: ENSMUSG00000033615
AA Change: R59L

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 2.2e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129040
AA Change: R44L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118118
Gene: ENSMUSG00000033615
AA Change: R44L

DomainStartEndE-ValueType
Pfam:Synaphin 1 77 2.6e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene suffer from ataxia, are unable to reproduce, and die within 2-4 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fam84b T C 15: 60,823,150 D249G probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Lmf2 A T 15: 89,355,406 probably null Het
Mex3c A G 18: 73,590,045 N403S probably damaging Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Olfr646 C T 7: 104,107,053 T258I possibly damaging Het
Papolg T A 11: 23,890,252 I75F probably damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Shcbp1l A G 1: 153,428,665 K157E probably benign Het
Slc22a17 A G 14: 54,907,994 C233R probably damaging Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Cplx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Cplx1 APN 5 108548527 splice site probably null
hillbilly UTSW 5 108520165 nonsense probably null
R1227:Cplx1 UTSW 5 108525396 missense possibly damaging 0.92
R6666:Cplx1 UTSW 5 108520165 nonsense probably null
R7002:Cplx1 UTSW 5 108520316 missense probably damaging 0.98
R7074:Cplx1 UTSW 5 108548527 splice site probably null
R7618:Cplx1 UTSW 5 108525529 missense possibly damaging 0.71
R8777:Cplx1 UTSW 5 108525569 critical splice acceptor site probably null
R8777-TAIL:Cplx1 UTSW 5 108525569 critical splice acceptor site probably null
Posted On2015-04-16