Incidental Mutation 'IGL01902:Cpne6'
ID 179556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne6
Ensembl Gene ENSMUSG00000022212
Gene Name copine VI
Synonyms neuronal copine
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL01902
Quality Score
Status
Chromosome 14
Chromosomal Location 55747902-55754888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55750207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 113 (T113S)
Ref Sequence ENSEMBL: ENSMUSP00000132999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074225] [ENSMUST00000076236] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000226757] [ENSMUST00000228877]
AlphaFold Q9Z140
Predicted Effect possibly damaging
Transcript: ENSMUST00000074225
AA Change: T113S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: T113S

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076236
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211

DomainStartEndE-ValueType
low complexity region 138 151 N/A INTRINSIC
internal_repeat_1 203 297 7.56e-6 PROSPERO
Blast:LRR 333 362 5e-10 BLAST
Blast:LRR 423 446 1e-5 BLAST
low complexity region 447 462 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
internal_repeat_1 496 593 7.56e-6 PROSPERO
Pfam:CARMIL_C 778 1065 5.3e-76 PFAM
low complexity region 1068 1117 N/A INTRINSIC
low complexity region 1137 1146 N/A INTRINSIC
low complexity region 1204 1216 N/A INTRINSIC
low complexity region 1318 1329 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163767
AA Change: T113S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: T113S

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165262
AA Change: T113S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: T113S

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 505 2.34e-14 SMART
low complexity region 542 556 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165725
AA Change: T113S

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212
AA Change: T113S

DomainStartEndE-ValueType
C2 21 126 1.22e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169869
Predicted Effect possibly damaging
Transcript: ENSMUST00000171643
AA Change: T113S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: T113S

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226388
Predicted Effect probably benign
Transcript: ENSMUST00000226757
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227563
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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,147,267 (GRCm39) S228P probably damaging Het
Adamtsl2 A T 2: 26,977,264 (GRCm39) I242F probably damaging Het
Bicdl1 A G 5: 115,789,933 (GRCm39) L284P probably damaging Het
Bnc2 A G 4: 84,309,181 (GRCm39) I138T probably damaging Het
Cep350 A G 1: 155,737,731 (GRCm39) L2704S probably damaging Het
Col7a1 C A 9: 108,806,895 (GRCm39) P2442T unknown Het
Crnkl1 T C 2: 145,766,632 (GRCm39) probably null Het
Cyp2c67 T A 19: 39,637,470 (GRCm39) D2V probably damaging Het
Frzb T A 2: 80,243,711 (GRCm39) S323C probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Ins2 C T 7: 142,233,179 (GRCm39) C31Y probably damaging Het
Lipf A T 19: 33,948,179 (GRCm39) N234Y probably benign Het
Mtf1 T C 4: 124,698,720 (GRCm39) F73L probably damaging Het
Nrxn1 A G 17: 91,395,919 (GRCm39) probably null Het
Pcnx1 A G 12: 82,025,868 (GRCm39) T1538A probably damaging Het
Polr1a T A 6: 71,940,732 (GRCm39) V47D probably damaging Het
Prune2 A G 19: 17,096,002 (GRCm39) E502G probably benign Het
Ralgapa2 C T 2: 146,156,934 (GRCm39) V1886M probably damaging Het
Rapgef3 T A 15: 97,648,181 (GRCm39) H676L probably benign Het
Rbm20 A T 19: 53,829,422 (GRCm39) N607Y probably damaging Het
Smc5 G A 19: 23,237,132 (GRCm39) T233I possibly damaging Het
Snx13 A T 12: 35,183,306 (GRCm39) probably null Het
Suz12 T A 11: 79,916,776 (GRCm39) C510S probably benign Het
Tab2 A T 10: 7,795,756 (GRCm39) M242K probably benign Het
Tep1 A G 14: 51,103,548 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Cpne6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Cpne6 APN 14 55,750,187 (GRCm39) missense probably damaging 1.00
IGL01306:Cpne6 APN 14 55,752,706 (GRCm39) missense probably damaging 1.00
IGL01548:Cpne6 APN 14 55,750,183 (GRCm39) missense probably damaging 0.99
IGL01867:Cpne6 APN 14 55,751,137 (GRCm39) missense probably benign 0.16
IGL02669:Cpne6 APN 14 55,751,283 (GRCm39) missense probably benign 0.09
IGL02695:Cpne6 APN 14 55,752,037 (GRCm39) missense probably damaging 1.00
IGL03082:Cpne6 APN 14 55,753,760 (GRCm39) missense probably damaging 1.00
ANU23:Cpne6 UTSW 14 55,752,706 (GRCm39) missense probably damaging 1.00
ANU23:Cpne6 UTSW 14 55,749,459 (GRCm39) missense probably benign 0.05
R0504:Cpne6 UTSW 14 55,752,059 (GRCm39) missense probably damaging 0.99
R1472:Cpne6 UTSW 14 55,752,092 (GRCm39) missense probably benign 0.00
R1538:Cpne6 UTSW 14 55,752,677 (GRCm39) missense possibly damaging 0.92
R1898:Cpne6 UTSW 14 55,754,485 (GRCm39) missense possibly damaging 0.88
R2679:Cpne6 UTSW 14 55,753,786 (GRCm39) missense possibly damaging 0.94
R4235:Cpne6 UTSW 14 55,751,057 (GRCm39) intron probably benign
R4453:Cpne6 UTSW 14 55,750,054 (GRCm39) missense probably damaging 1.00
R4471:Cpne6 UTSW 14 55,754,089 (GRCm39) missense probably damaging 1.00
R4823:Cpne6 UTSW 14 55,754,467 (GRCm39) missense probably damaging 1.00
R5171:Cpne6 UTSW 14 55,749,605 (GRCm39) missense possibly damaging 0.71
R5243:Cpne6 UTSW 14 55,750,204 (GRCm39) missense probably damaging 1.00
R5999:Cpne6 UTSW 14 55,750,516 (GRCm39) missense probably benign
R6111:Cpne6 UTSW 14 55,752,091 (GRCm39) missense probably benign 0.18
R6475:Cpne6 UTSW 14 55,751,110 (GRCm39) missense probably damaging 1.00
R6535:Cpne6 UTSW 14 55,751,122 (GRCm39) missense probably benign 0.30
R6787:Cpne6 UTSW 14 55,752,701 (GRCm39) missense probably damaging 1.00
R7318:Cpne6 UTSW 14 55,751,751 (GRCm39) missense possibly damaging 0.95
R7453:Cpne6 UTSW 14 55,749,473 (GRCm39) missense probably benign 0.08
R7707:Cpne6 UTSW 14 55,753,771 (GRCm39) missense probably damaging 1.00
R7934:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R7935:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R7998:Cpne6 UTSW 14 55,753,751 (GRCm39) missense probably damaging 0.98
R8083:Cpne6 UTSW 14 55,750,698 (GRCm39) missense probably benign 0.42
R8141:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R8144:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R8145:Cpne6 UTSW 14 55,752,025 (GRCm39) missense probably benign 0.10
R8190:Cpne6 UTSW 14 55,749,485 (GRCm39) missense probably benign 0.03
R8919:Cpne6 UTSW 14 55,750,104 (GRCm39) missense probably benign 0.00
R8966:Cpne6 UTSW 14 55,750,060 (GRCm39) missense probably damaging 0.99
R8983:Cpne6 UTSW 14 55,753,711 (GRCm39) missense probably damaging 1.00
R9426:Cpne6 UTSW 14 55,751,176 (GRCm39) critical splice donor site probably null
R9540:Cpne6 UTSW 14 55,750,108 (GRCm39) missense probably benign 0.14
R9772:Cpne6 UTSW 14 55,754,117 (GRCm39) missense probably benign 0.14
Posted On 2014-05-07