Incidental Mutation 'IGL02043:Cpne3'
ID 184861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne3
Ensembl Gene ENSMUSG00000028228
Gene Name copine III
Synonyms 5430428M23Rik, CPN3, PRO1071, 5730450C07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL02043
Quality Score
Status
Chromosome 4
Chromosomal Location 19519254-19570108 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 19543340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029885]
AlphaFold Q8BT60
Predicted Effect probably null
Transcript: ENSMUST00000029885
SMART Domains Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228

DomainStartEndE-ValueType
C2 7 114 1.06e-10 SMART
C2 139 245 9.53e-13 SMART
low complexity region 253 262 N/A INTRINSIC
VWA 289 495 7.54e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134025
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Cpne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Cpne3 APN 4 19,543,318 (GRCm39) missense probably damaging 1.00
IGL01325:Cpne3 APN 4 19,535,229 (GRCm39) missense probably benign 0.00
IGL01467:Cpne3 APN 4 19,553,737 (GRCm39) missense probably benign
IGL02992:Cpne3 APN 4 19,532,486 (GRCm39) missense probably benign
IGL03330:Cpne3 APN 4 19,553,774 (GRCm39) missense possibly damaging 0.63
LCD18:Cpne3 UTSW 4 19,563,382 (GRCm39) intron probably benign
R0507:Cpne3 UTSW 4 19,532,544 (GRCm39) splice site probably benign
R0652:Cpne3 UTSW 4 19,532,486 (GRCm39) missense probably benign
R1499:Cpne3 UTSW 4 19,526,336 (GRCm39) missense probably damaging 1.00
R1881:Cpne3 UTSW 4 19,535,266 (GRCm39) missense probably benign 0.03
R2007:Cpne3 UTSW 4 19,553,833 (GRCm39) missense probably damaging 1.00
R2147:Cpne3 UTSW 4 19,536,562 (GRCm39) missense probably benign
R2507:Cpne3 UTSW 4 19,553,871 (GRCm39) missense probably damaging 1.00
R4525:Cpne3 UTSW 4 19,523,206 (GRCm39) missense probably damaging 1.00
R4880:Cpne3 UTSW 4 19,540,827 (GRCm39) missense probably benign
R5219:Cpne3 UTSW 4 19,526,366 (GRCm39) missense probably damaging 1.00
R5518:Cpne3 UTSW 4 19,553,779 (GRCm39) missense probably benign 0.10
R5883:Cpne3 UTSW 4 19,552,314 (GRCm39) missense possibly damaging 0.67
R6850:Cpne3 UTSW 4 19,535,231 (GRCm39) missense possibly damaging 0.91
R6979:Cpne3 UTSW 4 19,533,098 (GRCm39) missense probably benign 0.01
R7395:Cpne3 UTSW 4 19,528,239 (GRCm39) missense probably damaging 0.96
R7948:Cpne3 UTSW 4 19,528,186 (GRCm39) critical splice donor site probably null
R8002:Cpne3 UTSW 4 19,528,232 (GRCm39) missense probably damaging 0.99
R8056:Cpne3 UTSW 4 19,532,426 (GRCm39) missense possibly damaging 0.60
R8099:Cpne3 UTSW 4 19,525,169 (GRCm39) missense possibly damaging 0.61
R8431:Cpne3 UTSW 4 19,526,316 (GRCm39) missense probably damaging 0.98
R8432:Cpne3 UTSW 4 19,535,227 (GRCm39) missense probably benign 0.26
R9029:Cpne3 UTSW 4 19,535,292 (GRCm39) missense possibly damaging 0.66
R9039:Cpne3 UTSW 4 19,540,770 (GRCm39) missense probably damaging 0.99
R9421:Cpne3 UTSW 4 19,536,561 (GRCm39) missense probably benign 0.33
R9425:Cpne3 UTSW 4 19,525,148 (GRCm39) missense probably damaging 1.00
R9604:Cpne3 UTSW 4 19,555,477 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07