Incidental Mutation 'R4283:Cplx2'
ID 321963
Institutional Source Beutler Lab
Gene Symbol Cplx2
Ensembl Gene ENSMUSG00000025867
Gene Name complexin 2
Synonyms 921-L, Gm34843
MMRRC Submission 041651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4283 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 54519162-54531730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54527377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 87 (E87G)
Ref Sequence ENSEMBL: ENSMUSP00000026985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026985]
AlphaFold P84086
Predicted Effect probably damaging
Transcript: ENSMUST00000026985
AA Change: E87G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026985
Gene: ENSMUSG00000025867
AA Change: E87G

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 3.1e-45 PFAM
Meta Mutation Damage Score 0.2716 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (41/41)
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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a variety of neurological abnormalities related to coordination, learning, and social interaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,697,087 (GRCm39) T229A probably benign Het
Adgrg5 T G 8: 95,664,326 (GRCm39) V312G probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Camk2b A C 11: 5,937,099 (GRCm39) S327A probably benign Het
Card9 A G 2: 26,247,309 (GRCm39) I280T possibly damaging Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cga T C 4: 34,905,264 (GRCm39) probably null Het
Copg1 C T 6: 87,885,527 (GRCm39) T723M probably damaging Het
Crtc2 A G 3: 90,166,543 (GRCm39) probably benign Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Ghr C A 15: 3,362,930 (GRCm39) V181L possibly damaging Het
Gm10750 A G 2: 148,857,916 (GRCm39) F112L unknown Het
Gm17541 A G 12: 4,739,656 (GRCm39) probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hdac10 A G 15: 89,009,826 (GRCm39) L402P possibly damaging Het
Hsd17b12 G C 2: 93,863,931 (GRCm39) R304G unknown Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Ncaph A G 2: 126,963,005 (GRCm39) probably benign Het
Ninl T C 2: 150,795,336 (GRCm39) probably benign Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pcsk4 C A 10: 80,165,287 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,699,734 (GRCm39) E60G probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Slc17a6 A G 7: 51,294,824 (GRCm39) Y177C probably damaging Het
Tas2r104 C T 6: 131,662,374 (GRCm39) A112T probably damaging Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tas2r143 T A 6: 42,378,007 (GRCm39) probably null Het
Tfeb A G 17: 48,100,699 (GRCm39) E305G probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Upf2 A G 2: 5,978,369 (GRCm39) N411S unknown Het
Vmn2r52 C T 7: 9,904,565 (GRCm39) G425R possibly damaging Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Cplx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1239:Cplx2 UTSW 13 54,527,415 (GRCm39) missense probably damaging 0.99
R4280:Cplx2 UTSW 13 54,527,377 (GRCm39) missense probably damaging 1.00
R4362:Cplx2 UTSW 13 54,526,630 (GRCm39) missense probably benign 0.02
R4363:Cplx2 UTSW 13 54,526,630 (GRCm39) missense probably benign 0.02
R4649:Cplx2 UTSW 13 54,527,361 (GRCm39) missense probably benign 0.14
R4965:Cplx2 UTSW 13 54,527,460 (GRCm39) missense possibly damaging 0.95
R5165:Cplx2 UTSW 13 54,526,789 (GRCm39) missense possibly damaging 0.80
R5465:Cplx2 UTSW 13 54,527,352 (GRCm39) missense possibly damaging 0.95
R6193:Cplx2 UTSW 13 54,527,406 (GRCm39) missense probably damaging 1.00
R6642:Cplx2 UTSW 13 54,526,736 (GRCm39) missense probably damaging 0.98
R7361:Cplx2 UTSW 13 54,526,639 (GRCm39) missense probably benign 0.06
R7422:Cplx2 UTSW 13 54,526,663 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- AGTCACCTGCTAAAGACTGGG -3'
(R):5'- CCCCTTTGGAACTGAGACTTAAC -3'

Sequencing Primer
(F):5'- ACCTGCTAAAGACTGGGCTCAG -3'
(R):5'- AAAGTCATAACGTGGAAGGGGC -3'
Posted On 2015-06-20