Incidental Mutation 'R5465:Cplx2'
ID 433218
Institutional Source Beutler Lab
Gene Symbol Cplx2
Ensembl Gene ENSMUSG00000025867
Gene Name complexin 2
Synonyms 921-L, Gm34843
MMRRC Submission 043026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5465 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 54519162-54531730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54527352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 79 (E79K)
Ref Sequence ENSEMBL: ENSMUSP00000026985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026985]
AlphaFold P84086
Predicted Effect possibly damaging
Transcript: ENSMUST00000026985
AA Change: E79K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026985
Gene: ENSMUSG00000025867
AA Change: E79K

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 3.1e-45 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aplp1 T C 7: 30,136,277 (GRCm39) D500G probably benign Het
Atg7 G A 6: 114,629,493 (GRCm39) G4R probably benign Het
Atp11b G A 3: 35,864,333 (GRCm39) V302I probably benign Het
Cacna1b C T 2: 24,540,438 (GRCm39) probably null Het
Ccna1 T C 3: 54,953,065 (GRCm39) H234R probably benign Het
Dnai4 T A 4: 102,906,758 (GRCm39) D685V probably damaging Het
Gnb2 A G 5: 137,526,775 (GRCm39) I380T probably damaging Het
Gpr162 A T 6: 124,838,134 (GRCm39) V172D probably damaging Het
Gtf2a1 A C 12: 91,534,565 (GRCm39) F191V possibly damaging Het
Ift172 A T 5: 31,418,862 (GRCm39) probably null Het
Khdrbs2 T C 1: 32,658,255 (GRCm39) Y272H probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Map1a T C 2: 121,136,506 (GRCm39) S2203P probably damaging Het
Map3k1 A T 13: 111,892,654 (GRCm39) L867Q probably benign Het
Ncapd2 A T 6: 125,153,746 (GRCm39) F656L probably damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or5b109 T C 19: 13,212,052 (GRCm39) I146T probably benign Het
Or7c70 T C 10: 78,682,852 (GRCm39) K299R probably benign Het
Pcdhb6 A T 18: 37,467,783 (GRCm39) I235F probably damaging Het
Pzp A G 6: 128,463,924 (GRCm39) S1395P probably damaging Het
Ralgapb C A 2: 158,290,325 (GRCm39) T412N possibly damaging Het
Rtn4r A T 16: 17,969,291 (GRCm39) M240L probably benign Het
Slit2 C T 5: 48,407,254 (GRCm39) T895I probably damaging Het
Slx4ip T G 2: 136,846,867 (GRCm39) L44R probably damaging Het
Sptbn2 C A 19: 4,800,133 (GRCm39) Q2196K probably benign Het
Tbc1d16 G A 11: 119,046,885 (GRCm39) S454L probably benign Het
Tet1 T C 10: 62,675,556 (GRCm39) H840R probably benign Het
Usp47 C T 7: 111,658,209 (GRCm39) T176M probably damaging Het
Utp6 A T 11: 79,839,836 (GRCm39) I284N probably benign Het
Vcpip1 T C 1: 9,817,372 (GRCm39) H337R probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
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
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'- TCAGTCACCTGCTAAAGACTGG -3'
(R):5'- CCCTTTGGAACTGAGACTTAACTG -3'

Sequencing Primer
(F):5'- ACCTGCTAAAGACTGGGCTCAG -3'
(R):5'- AGGAGGATGGGTTACTTCTTGAAC -3'
Posted On 2016-10-06