Incidental Mutation 'R6642:Cplx2'
ID 525869
Institutional Source Beutler Lab
Gene Symbol Cplx2
Ensembl Gene ENSMUSG00000025867
Gene Name complexin 2
Synonyms 921-L, Gm34843
MMRRC Submission 044763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R6642 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 54519162-54531730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54526736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 48 (R48L)
Ref Sequence ENSEMBL: ENSMUSP00000026985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026985]
AlphaFold P84086
Predicted Effect probably damaging
Transcript: ENSMUST00000026985
AA Change: R48L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026985
Gene: ENSMUSG00000025867
AA Change: R48L

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 3.1e-45 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,790 (GRCm39) V215D probably damaging Het
Ablim1 A G 19: 57,119,284 (GRCm39) S267P probably benign Het
Adcy2 C T 13: 68,768,945 (GRCm39) C1061Y probably damaging Het
Aip C A 19: 4,165,149 (GRCm39) C240F probably damaging Het
Aldh1a2 A T 9: 71,160,268 (GRCm39) D98V probably damaging Het
Arhgef40 T C 14: 52,228,419 (GRCm39) probably benign Het
Ctrl C T 8: 106,659,451 (GRCm39) probably null Het
Dnhd1 A G 7: 105,353,006 (GRCm39) T2720A probably benign Het
Fzd1 A G 5: 4,805,696 (GRCm39) Y629H probably damaging Het
Gins1 T C 2: 150,770,038 (GRCm39) probably null Het
Gpr149 C T 3: 62,437,995 (GRCm39) A721T probably damaging Het
Helb A T 10: 119,920,835 (GRCm39) M1036K probably benign Het
Il16 A G 7: 83,337,335 (GRCm39) F127L probably benign Het
Kctd20 A T 17: 29,180,640 (GRCm39) H138L probably damaging Het
Kctd9 T A 14: 67,962,122 (GRCm39) L55* probably null Het
Marf1 C T 16: 13,950,611 (GRCm39) R925H probably benign Het
Mbip A T 12: 56,389,191 (GRCm39) probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nod1 T G 6: 54,925,014 (GRCm39) D99A probably damaging Het
Olfm4 A G 14: 80,259,107 (GRCm39) K419E probably damaging Het
Or6c214 A T 10: 129,591,232 (GRCm39) L29Q probably damaging Het
Pik3r4 A G 9: 105,521,845 (GRCm39) D137G probably benign Het
Prdm4 T C 10: 85,743,682 (GRCm39) E191G probably benign Het
Rassf10 A T 7: 112,554,784 (GRCm39) T462S probably benign Het
Rundc3b A T 5: 8,629,071 (GRCm39) I110N probably damaging Het
Sgsm3 C T 15: 80,893,901 (GRCm39) R479C probably damaging Het
Tmc7 A T 7: 118,144,834 (GRCm39) Y575* probably null Het
Trim33 T C 3: 103,244,830 (GRCm39) L310S probably damaging Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Ttn T C 2: 76,565,740 (GRCm39) E28204G probably damaging Het
Vmn1r233 A T 17: 21,214,002 (GRCm39) L316Q probably damaging Het
Vmn2r110 A T 17: 20,803,779 (GRCm39) N265K possibly damaging Het
Xylb A G 9: 119,196,559 (GRCm39) H114R probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C 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
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
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'- TCGTCATGAAGCAAGCCCTC -3'
(R):5'- TGCGAAGACACTTGTTTTCCTG -3'

Sequencing Primer
(F):5'- AGGTGAGCCTGCCACCTTTC -3'
(R):5'- CGAAGACACTTGTTTTCCTGATGAG -3'
Posted On 2018-06-22