Incidental Mutation 'R4363:Cplx2'
ID 324998
Institutional Source Beutler Lab
Gene Symbol Cplx2
Ensembl Gene ENSMUSG00000025867
Gene Name complexin 2
Synonyms 921-L, Gm34843
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4363 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 54519162-54531730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54526630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 13 (T13S)
Ref Sequence ENSEMBL: ENSMUSP00000026985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026985]
AlphaFold P84086
Predicted Effect probably benign
Transcript: ENSMUST00000026985
AA Change: T13S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000026985
Gene: ENSMUSG00000025867
AA Change: T13S

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 3.1e-45 PFAM
Meta Mutation Damage Score 0.0773 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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. 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G T 19: 43,787,575 (GRCm39) W207L possibly damaging Het
Adamts13 G A 2: 26,894,794 (GRCm39) C1034Y probably damaging Het
Adgrb3 A T 1: 25,151,303 (GRCm39) V1081E probably damaging Het
Apcdd1 T A 18: 63,085,003 (GRCm39) I400N possibly damaging Het
Bcan G T 3: 87,904,405 (GRCm39) T117K probably damaging Het
Bicc1 ATGTG ATG 10: 70,779,204 (GRCm39) probably null Het
Cmtr1 T C 17: 29,893,206 (GRCm39) L75P probably damaging Het
Cplane1 T A 15: 8,300,229 (GRCm39) S3179T unknown Het
Drd3 A T 16: 43,582,722 (GRCm39) I72F probably damaging Het
Dsn1 A T 2: 156,841,062 (GRCm39) I214K probably benign Het
Ermp1 A T 19: 29,590,276 (GRCm39) W809R probably damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Fbxo33 T C 12: 59,251,648 (GRCm39) H289R probably damaging Het
Fcgbpl1 T C 7: 27,846,331 (GRCm39) S1008P probably damaging Het
Gli2 T C 1: 118,781,100 (GRCm39) N189S probably benign Het
Hus1 G T 11: 8,948,676 (GRCm39) L242I probably damaging Het
Hyou1 G A 9: 44,291,912 (GRCm39) probably null Het
Kirrel1 C A 3: 86,997,792 (GRCm39) E244* probably null Het
Mmrn2 C T 14: 34,119,934 (GRCm39) A268V probably damaging Het
Mycbp2 G T 14: 103,485,893 (GRCm39) A1023E probably damaging Het
Nedd9 A T 13: 41,471,429 (GRCm39) I184N probably damaging Het
Nmnat1 T C 4: 149,557,902 (GRCm39) I47V probably benign Het
Or1j11 A T 2: 36,311,544 (GRCm39) I45F probably damaging Het
Or51f5 T C 7: 102,424,463 (GRCm39) V244A probably benign Het
Otulinl C T 15: 27,664,429 (GRCm39) probably null Het
Pak1 T C 7: 97,532,793 (GRCm39) S198P possibly damaging Het
Pank1 A C 19: 34,804,532 (GRCm39) V208G probably damaging Het
Pcdhga12 C G 18: 37,899,214 (GRCm39) F15L probably benign Het
Recql4 T C 15: 76,590,244 (GRCm39) D723G probably benign Het
Rgs22 A T 15: 36,104,020 (GRCm39) I147N probably damaging Het
Selenbp1 A G 3: 94,850,060 (GRCm39) probably null Het
Sspo A G 6: 48,475,665 (GRCm39) Y4927C probably damaging Het
Syk A T 13: 52,794,766 (GRCm39) H477L probably damaging Het
Tnfrsf11b T A 15: 54,119,555 (GRCm39) T140S possibly damaging Het
Vmn2r-ps69 T C 7: 84,959,700 (GRCm39) noncoding transcript 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
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
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'- TCATTTCCCAAAGGCAGACC -3'
(R):5'- ACCTTGTCTCGGATCTGCTG -3'

Sequencing Primer
(F):5'- TGAATGCGAATTCAGCCACG -3'
(R):5'- GATCTGCTGCCGGACCTTC -3'
Posted On 2015-07-06