Incidental Mutation 'R3768:Cplx4'
ID 273145
Institutional Source Beutler Lab
Gene Symbol Cplx4
Ensembl Gene ENSMUSG00000024519
Gene Name complexin 4
Synonyms A930004D23Rik
MMRRC Submission 040745-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3768 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 66088793-66103249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66102998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 41 (T41A)
Ref Sequence ENSEMBL: ENSMUSP00000025397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025397]
AlphaFold Q80WM3
Predicted Effect probably benign
Transcript: ENSMUST00000025397
AA Change: T41A

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025397
Gene: ENSMUSG00000024519
AA Change: T41A

DomainStartEndE-ValueType
Pfam:Synaphin 1 140 2.7e-49 PFAM
Meta Mutation Damage Score 0.0659 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile displaying only slight abnormalities in eye electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,204,217 (GRCm39) R353G probably benign Het
Ank1 A G 8: 23,606,202 (GRCm39) D1153G possibly damaging Het
Ankrd12 T C 17: 66,292,715 (GRCm39) Y906C probably benign Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Arid4a A G 12: 71,113,893 (GRCm39) K160R probably damaging Het
Atp8a2 T A 14: 60,281,785 (GRCm39) H142L probably benign Het
B3gnt2 T C 11: 22,786,765 (GRCm39) K141R probably damaging Het
Btbd7 G A 12: 102,761,451 (GRCm39) P578L probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cnga4 A G 7: 105,056,887 (GRCm39) N330S probably damaging Het
Cxcl15 A C 5: 90,949,303 (GRCm39) D156A unknown Het
D630045J12Rik A G 6: 38,119,844 (GRCm39) S1633P probably damaging Het
Dock10 T A 1: 80,510,085 (GRCm39) N1581I probably damaging Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dscaml1 T A 9: 45,643,435 (GRCm39) F1285I possibly damaging Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Kctd19 T C 8: 106,123,112 (GRCm39) T101A probably benign Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lrp2 C T 2: 69,335,449 (GRCm39) D1425N probably benign Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Ncor2 A G 5: 125,105,751 (GRCm39) V1613A probably damaging Het
Nlgn2 C T 11: 69,719,230 (GRCm39) V207I possibly damaging Het
Or10v1 G A 19: 11,873,676 (GRCm39) G97D probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Or2y14 T C 11: 49,404,600 (GRCm39) I45T probably damaging Het
Or4d10c A G 19: 12,065,304 (GRCm39) I284T probably damaging Het
Osbpl3 G A 6: 50,324,982 (GRCm39) P172L possibly damaging Het
Pabpc4 T A 4: 123,188,405 (GRCm39) V338D probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pik3c3 T A 18: 30,466,326 (GRCm39) S792R probably damaging Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sap25 T A 5: 137,640,632 (GRCm39) F171I probably damaging Het
Serpinb11 T C 1: 107,305,392 (GRCm39) probably null Het
Tarm1 A T 7: 3,546,097 (GRCm39) S69T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp36 T C 11: 118,153,878 (GRCm39) K846R probably damaging Het
Zfp229 A T 17: 21,964,844 (GRCm39) H358L probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Cplx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Cplx4 APN 18 66,090,166 (GRCm39) splice site probably benign
IGL01577:Cplx4 APN 18 66,103,015 (GRCm39) missense probably damaging 1.00
IGL02124:Cplx4 APN 18 66,103,123 (GRCm39) utr 5 prime probably benign
IGL02137:Cplx4 APN 18 66,090,125 (GRCm39) missense probably benign 0.06
IGL02885:Cplx4 APN 18 66,089,984 (GRCm39) missense probably damaging 1.00
IGL03263:Cplx4 APN 18 66,100,559 (GRCm39) missense probably benign 0.04
R0894:Cplx4 UTSW 18 66,090,116 (GRCm39) missense possibly damaging 0.92
R2107:Cplx4 UTSW 18 66,089,964 (GRCm39) missense probably benign 0.05
R3767:Cplx4 UTSW 18 66,102,998 (GRCm39) missense probably benign 0.39
R3769:Cplx4 UTSW 18 66,102,998 (GRCm39) missense probably benign 0.39
R4772:Cplx4 UTSW 18 66,103,048 (GRCm39) missense possibly damaging 0.94
R5347:Cplx4 UTSW 18 66,103,157 (GRCm39) start gained probably benign
R7081:Cplx4 UTSW 18 66,100,538 (GRCm39) critical splice donor site probably null
R7231:Cplx4 UTSW 18 66,090,123 (GRCm39) missense probably damaging 1.00
R7953:Cplx4 UTSW 18 66,090,190 (GRCm39) splice site probably null
R8043:Cplx4 UTSW 18 66,090,190 (GRCm39) splice site probably null
R8469:Cplx4 UTSW 18 66,090,083 (GRCm39) missense possibly damaging 0.56
R9041:Cplx4 UTSW 18 66,103,097 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACGGGGTTAGAGGTAGAGTC -3'
(R):5'- TCCCAAATGTGTGGCTGTG -3'

Sequencing Primer
(F):5'- GTAGAGTCAAAGGAACGGCC -3'
(R):5'- CGAGAAAATGGCTTTCTTTGT -3'
Posted On 2015-03-25