Incidental Mutation 'R7002:Cplx1'
ID 544589
Institutional Source Beutler Lab
Gene Symbol Cplx1
Ensembl Gene ENSMUSG00000033615
Gene Name complexin 1
Synonyms 921-S
MMRRC Submission 045107-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7002 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108666420-108697890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108668182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 58 (K58M)
Ref Sequence ENSEMBL: ENSMUSP00000118118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046892] [ENSMUST00000129040]
AlphaFold P63040
Predicted Effect probably damaging
Transcript: ENSMUST00000046892
AA Change: K73M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038502
Gene: ENSMUSG00000033615
AA Change: K73M

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 2.2e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129040
AA Change: K58M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118118
Gene: ENSMUSG00000033615
AA Change: K58M

DomainStartEndE-ValueType
Pfam:Synaphin 1 77 2.6e-29 PFAM
Meta Mutation Damage Score 0.4460 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene suffer from ataxia, are unable to reproduce, and die within 2-4 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,832,390 (GRCm39) S1308P probably damaging Het
Abl2 A T 1: 156,386,703 (GRCm39) R29W probably damaging Het
Adam6b C A 12: 113,453,327 (GRCm39) S48* probably null Het
Adamts18 T A 8: 114,501,922 (GRCm39) D313V possibly damaging Het
Aoc1 A G 6: 48,882,810 (GRCm39) S229G probably benign Het
Apol10a G A 15: 77,369,046 (GRCm39) R15H possibly damaging Het
Bend4 T A 5: 67,555,602 (GRCm39) T535S probably benign Het
Blm T C 7: 80,119,501 (GRCm39) K1024R probably benign Het
Brca2 T C 5: 150,463,383 (GRCm39) V1049A probably benign Het
Cerk T C 15: 86,040,795 (GRCm39) Y188C possibly damaging Het
Cic C T 7: 24,971,621 (GRCm39) R451C probably damaging Het
Col18a1 A T 10: 77,002,177 (GRCm39) V10E unknown Het
Crybg1 T A 10: 43,874,831 (GRCm39) D759V probably damaging Het
Cwc25 A T 11: 97,638,897 (GRCm39) N342K probably damaging Het
Dab2 A T 15: 6,464,846 (GRCm39) T566S probably benign Het
Depdc5 G A 5: 33,034,502 (GRCm39) probably null Het
Dip2b T A 15: 100,058,346 (GRCm39) N408K probably benign Het
Dnah12 T C 14: 26,598,955 (GRCm39) I3631T probably damaging Het
Dnase1 A G 16: 3,857,410 (GRCm39) I236V possibly damaging Het
Duox1 C T 2: 122,150,358 (GRCm39) Q196* probably null Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Erich5 C T 15: 34,471,508 (GRCm39) L246F probably damaging Het
Frmpd1 C T 4: 45,284,200 (GRCm39) A1007V probably benign Het
Fsip2 T A 2: 82,819,687 (GRCm39) I5140N possibly damaging Het
Gan T C 8: 117,922,586 (GRCm39) C440R possibly damaging Het
Garnl3 T A 2: 32,944,205 (GRCm39) H73L possibly damaging Het
Gid8 T G 2: 180,355,096 (GRCm39) M34R possibly damaging Het
Gjd4 C A 18: 9,280,960 (GRCm39) L39F possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grhpr T C 4: 44,990,427 (GRCm39) S306P probably damaging Het
H2bc21 A G 3: 96,128,689 (GRCm39) I70V probably benign Het
Hdac4 T G 1: 91,896,083 (GRCm39) K729T possibly damaging Het
Igfbp2 C T 1: 72,888,804 (GRCm39) H85Y probably damaging Het
Igkv4-61 T G 6: 69,394,373 (GRCm39) I13L probably benign Het
Il18r1 G A 1: 40,514,013 (GRCm39) S73N probably benign Het
Immt T C 6: 71,838,024 (GRCm39) V244A probably damaging Het
Irs1 T C 1: 82,265,981 (GRCm39) Y745C probably benign Het
Itpr3 T C 17: 27,329,554 (GRCm39) V1526A probably benign Het
Jrkl A T 9: 13,245,526 (GRCm39) I45K probably damaging Het
Lamp3 G T 16: 19,474,172 (GRCm39) Q401K possibly damaging Het
Lrrfip1 T A 1: 91,043,180 (GRCm39) H528Q probably benign Het
Ltn1 A T 16: 87,220,361 (GRCm39) D245E probably benign Het
Mmut T A 17: 41,252,274 (GRCm39) I272N possibly damaging Het
Mnat1 T C 12: 73,277,479 (GRCm39) probably benign Het
Mprip A C 11: 59,652,016 (GRCm39) M1907L probably benign Het
Nfu1 C A 6: 86,993,254 (GRCm39) H131Q probably benign Het
Nup188 T A 2: 30,213,580 (GRCm39) S670R probably damaging Het
Or5b120 A G 19: 13,480,039 (GRCm39) N111D probably benign Het
Or8k40 T C 2: 86,585,025 (GRCm39) D19G probably benign Het
Pals2 C T 6: 50,139,642 (GRCm39) P116L probably benign Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pbrm1 T A 14: 30,786,777 (GRCm39) D631E probably benign Het
Prss40 A T 1: 34,591,481 (GRCm39) probably null Het
Rnf13 A G 3: 57,741,033 (GRCm39) N274S probably damaging Het
Rtl1 T A 12: 109,560,381 (GRCm39) Y486F probably damaging Het
Sec14l3 A T 11: 4,025,263 (GRCm39) H291L possibly damaging Het
Senp5 A G 16: 31,802,593 (GRCm39) S532P probably damaging Het
Sepsecs T C 5: 52,804,550 (GRCm39) probably null Het
Serpina1e T C 12: 103,914,338 (GRCm39) I329V probably benign Het
Slc10a4-ps T A 5: 72,743,763 (GRCm39) probably null Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,773 (GRCm39) unknown Het
Smc5 A G 19: 23,209,247 (GRCm39) V639A probably benign Het
Speg T A 1: 75,399,912 (GRCm39) V2453E probably damaging Het
Syt2 T A 1: 134,671,842 (GRCm39) F207I probably damaging Het
Tchp C T 5: 114,846,857 (GRCm39) S48L probably benign Het
Trim12a A G 7: 103,953,383 (GRCm39) S243P possibly damaging Het
Ttn T C 2: 76,628,561 (GRCm39) E14533G probably damaging Het
Vmn1r50 T A 6: 90,084,819 (GRCm39) M188K probably benign Het
Vps11 G A 9: 44,266,376 (GRCm39) T437I probably damaging Het
Xrn1 C T 9: 95,929,843 (GRCm39) T1498I probably benign Het
Zfp236 A G 18: 82,709,701 (GRCm39) probably null Het
Zfp316 T C 5: 143,249,110 (GRCm39) D175G unknown Het
Zmynd11 A G 13: 9,744,366 (GRCm39) L256P probably damaging Het
Other mutations in Cplx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Cplx1 APN 5 108,696,393 (GRCm39) splice site probably null
IGL02588:Cplx1 APN 5 108,673,289 (GRCm39) missense possibly damaging 0.71
hillbilly UTSW 5 108,668,031 (GRCm39) nonsense probably null
R1227:Cplx1 UTSW 5 108,673,262 (GRCm39) missense possibly damaging 0.92
R6666:Cplx1 UTSW 5 108,668,031 (GRCm39) nonsense probably null
R7074:Cplx1 UTSW 5 108,696,393 (GRCm39) splice site probably null
R7618:Cplx1 UTSW 5 108,673,395 (GRCm39) missense possibly damaging 0.71
R8777:Cplx1 UTSW 5 108,673,435 (GRCm39) critical splice acceptor site probably null
R8777-TAIL:Cplx1 UTSW 5 108,673,435 (GRCm39) critical splice acceptor site probably null
R9762:Cplx1 UTSW 5 108,673,378 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TGAACATGTCCTGCAGTGG -3'
(R):5'- CTTCTAAAACCTGAGTGGGATCAC -3'

Sequencing Primer
(F):5'- GCCCAGGCAGGTACTTGATG -3'
(R):5'- CTGGAACCTAGCTGGAGTCTTC -3'
Posted On 2019-05-13