Incidental Mutation 'R1239:Cplx2'
ID 151897
Institutional Source Beutler Lab
Gene Symbol Cplx2
Ensembl Gene ENSMUSG00000025867
Gene Name complexin 2
Synonyms 921-L, Gm34843
MMRRC Submission 039306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R1239 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 54519162-54531730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54527415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 100 (A100S)
Ref Sequence ENSEMBL: ENSMUSP00000026985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026985]
AlphaFold P84086
Predicted Effect probably damaging
Transcript: ENSMUST00000026985
AA Change: A100S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026985
Gene: ENSMUSG00000025867
AA Change: A100S

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 3.1e-45 PFAM
Meta Mutation Damage Score 0.1335 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (44/45)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Adcy8 G T 15: 64,587,911 (GRCm39) R959S probably damaging Het
Ank1 A G 8: 23,586,171 (GRCm39) N455D probably damaging Het
Ankrd17 T C 5: 90,436,535 (GRCm39) T589A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Celsr1 G T 15: 85,863,347 (GRCm39) N1228K probably damaging Het
Ces4a T C 8: 105,876,130 (GRCm39) L557P probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Clba1 A G 12: 112,773,123 (GRCm39) R39G probably benign Het
Col27a1 T C 4: 63,237,152 (GRCm39) probably benign Het
Cpsf6 G A 10: 117,197,248 (GRCm39) probably benign Het
Cyp1a2 A G 9: 57,589,050 (GRCm39) F255L probably benign Het
Dnajc6 T C 4: 101,492,313 (GRCm39) Y783H probably damaging Het
E230025N22Rik T C 18: 36,818,528 (GRCm39) I434V probably damaging Het
Ermap T C 4: 119,046,122 (GRCm39) K3E probably benign Het
Gatd3a A G 10: 78,004,761 (GRCm39) probably benign Het
Gstm2 G A 3: 107,891,344 (GRCm39) L125F possibly damaging Het
Hk2 C T 6: 82,726,289 (GRCm39) G58R probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Matcap2 GTTCTTC GTTC 9: 22,335,995 (GRCm39) probably benign Het
Mgmt T C 7: 136,729,786 (GRCm39) F200S probably benign Het
Mug2 T G 6: 122,058,637 (GRCm39) probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or5an11 G T 19: 12,246,340 (GRCm39) V249F probably damaging Het
Or5b109 G A 19: 13,212,040 (GRCm39) C142Y possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Phc3 A G 3: 30,968,279 (GRCm39) V886A probably damaging Het
Plcg2 T A 8: 118,282,783 (GRCm39) V88D probably benign Het
Podxl2 C T 6: 88,826,965 (GRCm39) V50I probably benign Het
Rap1gap G T 4: 137,445,307 (GRCm39) M329I probably damaging Het
Rbm5 A G 9: 107,630,165 (GRCm39) probably benign Het
Robo1 A G 16: 72,821,430 (GRCm39) probably null Het
Ryr2 A T 13: 11,897,929 (GRCm39) probably null Het
Skida1 A C 2: 18,052,128 (GRCm39) probably benign Het
Tecta A G 9: 42,243,781 (GRCm39) F2024L probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Vmn1r16 C T 6: 57,300,618 (GRCm39) M1I probably null Het
Zbtb39 G T 10: 127,578,938 (GRCm39) G504V probably damaging Het
Zfp1004 T C 2: 150,033,891 (GRCm39) Y71H possibly damaging Het
Zfp106 A T 2: 120,364,075 (GRCm39) N777K probably damaging Het
Other mutations in Cplx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- TGTTGATGAGACACACAGCCAACC -3'
(R):5'- ACTAGAAACCCTGGGATGAAGGGTC -3'

Sequencing Primer
(F):5'- ACACAGCCAACCTTCTGTTC -3'
(R):5'- CCCTTTGGAACTGAGACTTAACTG -3'
Posted On 2014-01-29