Incidental Mutation 'R4280:Cplx2'
ID 322860
Institutional Source Beutler Lab
Gene Symbol Cplx2
Ensembl Gene ENSMUSG00000025867
Gene Name complexin 2
Synonyms 921-L, Gm34843
MMRRC Submission 041648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4280 (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% (51/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,171,185 (GRCm39) C1322R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arvcf G A 16: 18,216,741 (GRCm39) R292H probably damaging Het
Ccdc102a C A 8: 95,634,444 (GRCm39) G382* probably null Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cep76 T A 18: 67,773,229 (GRCm39) D23V probably benign Het
Cimip3 T C 17: 47,724,780 (GRCm39) M17V probably benign Het
Clec12a A G 6: 129,340,892 (GRCm39) Y224C probably damaging Het
Ctr9 A G 7: 110,645,930 (GRCm39) probably benign Het
Dgat2 A G 7: 98,808,204 (GRCm39) I157T probably damaging Het
Epha1 G T 6: 42,341,986 (GRCm39) P355T probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hephl1 A G 9: 15,023,330 (GRCm39) V24A probably benign Het
Itgb4 T A 11: 115,881,761 (GRCm39) M771K probably damaging Het
Mov10 A C 3: 104,707,095 (GRCm39) F635V probably damaging Het
Mtres1 A T 10: 43,408,905 (GRCm39) F79L probably benign Het
Or10ag60 A G 2: 87,438,595 (GRCm39) T288A possibly damaging Het
Or5an9 A G 19: 12,187,302 (GRCm39) Y124C probably damaging Het
Pbrm1 T C 14: 30,829,269 (GRCm39) probably null Het
Plscr1l1 T C 9: 92,225,701 (GRCm39) Y8H possibly damaging Het
Plxnd1 C A 6: 115,933,055 (GRCm39) probably benign Het
Plxnd1 A T 6: 115,933,056 (GRCm39) probably null Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Polq C A 16: 36,902,419 (GRCm39) Q2205K probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Pramel24 A G 4: 143,452,592 (GRCm39) T8A possibly damaging Het
Psma8 T A 18: 14,854,292 (GRCm39) D57E probably benign Het
Rbm47 T C 5: 66,183,520 (GRCm39) Y361C 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
Rrp36 G A 17: 46,983,302 (GRCm39) T104I probably damaging Het
Rrs1 G A 1: 9,616,364 (GRCm39) G206S probably damaging Het
Scgb2b6 A G 7: 31,318,367 (GRCm39) noncoding transcript Het
Skint5 T A 4: 113,799,749 (GRCm39) K126I probably damaging Het
Slc38a10 C T 11: 120,028,704 (GRCm39) G202D probably damaging Het
Supt5 G A 7: 28,016,498 (GRCm39) R761W probably damaging Het
Tmtc2 A G 10: 105,184,294 (GRCm39) probably null Het
Tob1 T C 11: 94,105,148 (GRCm39) V228A probably benign Het
Traj44 T C 14: 54,411,148 (GRCm39) probably benign Het
Trps1 G A 15: 50,709,478 (GRCm39) L291F probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ush2a A G 1: 188,310,658 (GRCm39) Q2078R probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign 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
R4283: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'- TCACCTGCTAAAGACTGGGCTC -3'
(R):5'- CCCTTTGGAACTGAGACTTAACTG -3'

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