Incidental Mutation 'R1227:Cplx1'
ID 172405
Institutional Source Beutler Lab
Gene Symbol Cplx1
Ensembl Gene ENSMUSG00000033615
Gene Name complexin 1
Synonyms 921-S
MMRRC Submission 039296-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1227 (G1)
Quality Score 211
Status Not validated
Chromosome 5
Chromosomal Location 108666420-108697890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108673262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000118118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046892] [ENSMUST00000129040]
AlphaFold P63040
Predicted Effect possibly damaging
Transcript: ENSMUST00000046892
AA Change: D68G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038502
Gene: ENSMUSG00000033615
AA Change: D68G

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 2.2e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129040
AA Change: D53G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118118
Gene: ENSMUSG00000033615
AA Change: D53G

DomainStartEndE-ValueType
Pfam:Synaphin 1 77 2.6e-29 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.9%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd42 T A 7: 92,254,508 (GRCm39) H367L possibly damaging Het
Arvcf C T 16: 18,207,169 (GRCm39) R43C probably benign Het
Camk1g T C 1: 193,029,741 (GRCm39) E453G possibly damaging Het
Cmya5 A T 13: 93,230,954 (GRCm39) L1378Q probably damaging Het
Ddx31 A G 2: 28,747,187 (GRCm39) E222G probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Fermt2 A G 14: 45,697,447 (GRCm39) S635P probably benign Het
Gls2 T C 10: 128,035,533 (GRCm39) S104P probably damaging Het
Hnrnpul2 T G 19: 8,800,601 (GRCm39) S226A possibly damaging Het
Klk1b5 T C 7: 43,496,670 (GRCm39) probably null Het
Nuak1 T A 10: 84,276,173 (GRCm39) T17S probably benign Het
Or5b101 T C 19: 13,005,217 (GRCm39) M159V probably benign Het
Or5p54 C A 7: 107,554,259 (GRCm39) S137Y probably damaging Het
Prag1 G A 8: 36,607,105 (GRCm39) E949K probably damaging Het
Pramel25 A G 4: 143,520,134 (GRCm39) H126R probably benign Het
Rasal1 T C 5: 120,808,372 (GRCm39) L468P probably damaging Het
Sez6l C A 5: 112,621,330 (GRCm39) C248F probably damaging Het
Sstr2 T C 11: 113,515,711 (GRCm39) I210T probably damaging Het
Tbc1d2 C T 4: 46,620,629 (GRCm39) G394S probably benign Het
Zfp108 T A 7: 23,959,885 (GRCm39) W159R probably benign Het
Other mutations in Cplx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Cplx1 APN 5 108,696,393 (GRCm39) splice site probably null
IGL02588:Cplx1 APN 5 108,673,289 (GRCm39) missense possibly damaging 0.71
hillbilly UTSW 5 108,668,031 (GRCm39) nonsense probably null
R6666:Cplx1 UTSW 5 108,668,031 (GRCm39) nonsense probably null
R7002:Cplx1 UTSW 5 108,668,182 (GRCm39) missense probably damaging 0.98
R7074:Cplx1 UTSW 5 108,696,393 (GRCm39) splice site probably null
R7618:Cplx1 UTSW 5 108,673,395 (GRCm39) missense possibly damaging 0.71
R8777:Cplx1 UTSW 5 108,673,435 (GRCm39) critical splice acceptor site probably null
R8777-TAIL:Cplx1 UTSW 5 108,673,435 (GRCm39) critical splice acceptor site probably null
R9762:Cplx1 UTSW 5 108,673,378 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GCCCTGATTTTCCTGACCCACAAAG -3'
(R):5'- AATGATGCTGCCTGATCTCTGCTG -3'

Sequencing Primer
(F):5'- TTTCTGGGCAGGGCCAAAG -3'
(R):5'- TGTTATTCCCAGGGGCCAC -3'
Posted On 2014-04-24